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Muscular dystrophies and related myopathies

Contributors
Because not all answers are created equal
Key points
Muscular dystrophies are genetic disorders due to a variety of chromosomal abnormalities
All are characterized by progressive muscle weakness, but the disease course and distribution of muscle involvement vary
with the type of dystrophy
There is no definitive treatment; therapy is aimed at adaptive strategies and devices, prevention of complications, and
supportive care
Background
Description
A group of inherited myopathies characterized by progressive muscle weakness and muscle degeneration; the muscles
first affected vary with each type of muscular dystrophy
Duchenne and Becker muscular dystrophies: generalized weakness and muscle wasting affecting the legs and
trunk initially, often with calf enlargement, and progressing to affect all voluntary muscles
Emery-Dreifuss muscular dystrophy: wasting of the shoulders, upper arms, and shins; joint deformities are
common
Distal muscular dystrophy: weakness and wasting of the hands, forearms, and/or lower legs initially
Facioscapulohumeral muscular dystrophy: facial muscle weakness with wasting of the shoulders and upper arms;
leg involvement is possible
Limb-girdle muscular dystrophy: weakness and wasting of the shoulders and pelvic girdles initially
Myotonic muscular dystrophy: weakness of the face, feet, hands, and neck initially; delayed relaxation of muscles
after contraction
Oculopharyngeal muscular dystrophy: the eyelids and throat are affected initially, leading to swallowing
problems in adults
Clinical expression of muscular dystrophies varies widely with respect to severity, age at onset, muscles first and most
affected, rate of disease progression, and inheritance patterns
Hypotonia may be present at birth or in early infancy; joint contractions or profound central nervous system involvement
may occur
The congenital form of myotonic muscular dystrophy is severe and is associated with mental retardation
Cardiac involvement is possible in patients with Duchenne, Becker, Emery-Dreifuss, myotonic, and some distal muscular
dystrophies; cardiopulmonary complications occur in the later stages of limb-girdle muscular dystrophy
Classification now focuses on the molecular genetic basis of the disease as a complement to clinical presentation, which
facilitates the understanding of the pathogenesis of dystrophies
There is no cure-treatments vary with disease expression
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Epidemiology
Incidence and prevalence
It is believed that 50,000 to 250,000 people are affected annually
The annual incidence varies with each muscular dystrophy:
Duchenne: 0.28 to 1.5 cases per 1,000 persons
Becker: 0.05 cases per 1,000 persons
Myotonic (most common adult form): 0.015 to 0.135 cases per 1,000 persons
Facioscapulohumeral: 0.05 cases per 1,000 persons
Emery-Dreifuss: 0.001 cases per 1,000 live births
The prevalence also varies with each muscular dystrophy:
Duchenne: 0.003 to 0.05 cases per 1,000 persons
Becker: 0.024 cases per 1,000 persons
Myotonic: 0.03 to 0.05 cases per 1,000 persons
Limb-girdle: 0.001 cases per 1,000 persons
Facioscapulohumeral: 0.05 cases per 1,000 persons
Demographics
Age:
The age at onset varies with each muscular dystrophy:
Congenital: at birth
Duchenne: early childhood
Becker, limb-girdle, facioscapulohumeral, myotonic: childhood, adolescence, adulthood, or middle age
Oculopharyngeal, distal: early adulthood to middle age
Gender:
Male patients are affected more than female patients due to the X-linked recessive pattern of inheritance of Duchenne,
Becker, and Emery-Dreifuss muscular dystrophies
Genetics:
X-linked inheritance:
66% of patients with Duchenne or Becker muscular dystrophy have a gene deletion at band Xp21.1 for
production of dystrophin
Emery-Dreifuss muscular dystrophy involves an abnormal gene at band Xq28
Autosomal dominant inheritance:
Myotonic muscular dystrophy genes have been mapped to chromosome arm 3q and band 19q13
The proximal myotonic myopathy gene has been mapped to chromosome 3
The facioscapulohumeral muscular dystrophy gene has been mapped to band 4q35
The oculopharyngeal muscular dystrophy gene has been mapped to band 14q11
Autosomal recessive inheritance: congenital muscular dystrophies include laminin
2
deficiency, which has been
mapped to band 6q22-23, and Fukuyama, which has been mapped to band 9q31-33
Both autosomal dominant and autosomal recessive inheritance patterns exist for various forms of distal and limb-girdle
muscular dystrophies
Information on the genetics of specific muscular dystrophies is available through the National Center for Biotechnology
Information's Online Mendelian Inheritance in Man

(OMIM

) and Gene Tests Web sites

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Causes and risk factors
All muscular dystrophies and related myopathies are caused by genetic deletions and mutations
These genetic disorders can be differentiated by the type of inheritance:
X-linked recessive inheritance (Duchenne, Becker, and Emery-Dreifuss muscular dystrophies)
Autosomal dominant inheritance (proximal myotonic myopathy and facioscapulohumeral and oculopharyngeal
muscular dystrophies)
Autosomal recessive inheritance (congenital and Fukuyama muscular dystrophies)
Mixed autosomal dominant and autosomal recessive inheritance patterns (some forms of distal and limb-girdle
muscular dystrophies)
In some cases of Duchenne and Becker muscular dystrophies, the disease arises from a new mutation in a gene rather than
from an inherited defective gene
Screening
For some muscular dystrophies in which the affected protein products have been identified, genetic analysis can identify
both carriers and affected patients; however, screening is not done routinely, unless there is a positive family history, due
to cost and lack of an effective cure
Information about the availability of genetic testing for muscular dystrophy is available on the National Center for
Biotechnology Information's GeneTests Web site
Primary prevention
Because they are inherited disorders, muscular dystrophies cannot be prevented in patients expressing affected gene
products; however, genetic counseling and family planning may be considered in patients with a positive family history
of muscular dystrophies who may be carriers of affected genes
Discussion of the risks of muscular dystrophy occurrence in family members of patients with muscular dystrophies and
their offspring can help families take a planned approach to the disease in succeeding generations
Diagnosis
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Summary approach
In addition to a thorough history and physical examination, the diagnosis is based on:
Elevated serum creatine kinase levels
Electromyographic findings
Histopathologic features on muscle biopsy (and accurate determination of protein expression in muscle tissue for some
dystrophies)
Results of genetic testing
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Clinical presentation
Symptoms
Duchenne and Becker muscular dystrophies:
Muscular weakness: initially, the family may report toe walking, clumsy gait with frequent falls, and/or progressive
difficulty climbing stairs or running
Weakness is present by age 5 in patients with Duchenne muscular dystrophy; by 8 to 10 years of age, most children
require leg braces, and the majority are nonambulatory by age 12
The onset of weakness is usually delayed until the second or third decade of life in patients with Becker muscular
dystrophy and is often accompanied by leg cramps in adolescence
Myotonic muscular dystrophy:
Facial weakness: open mouth and droopy eyelids
Weakness and muscle wasting of the face, feet, hands, and neck initially
Gonadal dysfunction
Myotonia: inability of the muscles to relax after contraction (often not bothersome to the patient)
Facioscapulohumeral muscular dystrophy:
Facial, shoulder, and proximal arm weakness often presents by the third decade of life and progresses gradually
Facial weakness spares the extraocular muscles, tongue, and pharynx
With disease progression, weakness of the lower extremities may affect the pelvic muscles but more often results in foot
drop, and up to 20% of patients become wheelchair bound
Limb-girdle muscular dystrophy:
Weakness begins in the shoulders or pelvis, although some types are associated with more distal weakness, especially of
the calves
Weakness usually spares the face, eyes, and pharynx
The spectrum of disease ranges from severe early onset to mild, slowly progressive
Emery-Dreifuss muscular dystrophy:
Toe walking and small biceps
Weakness of the shoulders, upper arms, and shin muscles accompanied by relatively early development of flexion
contractures of elbows and Achilles tendons
Congenital muscular dystrophy and congenital myopathies:
Generalized weakness, contractures, and joint deformities in some patients are present at birth or from early infancy
Hypotonia may be present in infancy
Some subtypes include mental retardation and seizures
Oculopharyngeal muscular dystrophy:
Initially, patients usually report ptosis, which may interfere with vision, but not diplopia
Usually appears in the fourth or fifth decade of life and progresses slowly, but a severe pediatric variant exists
Swallowing gradually becomes a severe problem
Speech also may become difficult
Eventually, more generalized facial, masticatory, neck, and proximal limb muscle weakness are noted
Distal muscular dystrophy:
Progressive weakness in the distal legs occurs with most types, causing foot drop or difficulty climbing stairs, although
some types begin with wasting of the hands and forearms
Onset may be as early as adolescence in patients with the Miyoshi type or as late as the eighth decade in patients with
Welander myopathy
Eventually, the weakness spreads to include other distal muscles
Patients with some subtypes develop proximal muscle weakness or pharyngeal weakness
6LJQV
Duchenne and Becker muscular dystrophies:
Normal milestones are attained until the child begins to walk
Toe walking, waddling gait, difficulty climbing stairs
Progressive difficulty rising from the floor or from a chair
Pseudohypertrophy of relatively weak calf muscles and contractures of the heel cords develop during childhood
Kyphosis and scoliosis (affects 90% of children with Duchenne muscular dystrophy) develop during childhood
Progressive decline in lung function, especially during adolescence
Progressive cardiomyopathy, especially in patients with Becker muscular dystrophy
Gowers sign (supporting the body with the arms when rising from floor until the legs are straight and then pushing the
body up with the arms to stand) is apparent by age 3; Trendelenburg gait is apparent by age 6
Intellectual impairment is present in 25% of patients with Duchenne muscular dystrophy
Myotonic muscular dystrophy:
Tent-shaped mouth, facial diplegia, indistinct or nasal speech, dull expression, frontal balding with temporal wasting,
and ptosis are noted on physical examination
Muscle weakness usually initially involves distal limb, facial, and axial muscles, although it can spread proximally later;
proximal myotonic myopathy has a similar presentation, except initial proximal muscle weakness predominates
The neonatal form is characterized by hypotonia, respiratory distress, poor feeding, and a high risk of aspiration
Cognition varies from normal in mildly affected adults to marked mental retardation in patients with the congenital form
Cataracts may be the only recognized problem in mildly affected adults
Cardiac arrhythmias often develop slowly
Insulin resistance
Gonadal atrophy
Facioscapulohumeral muscular dystrophy:
Facial muscle weakness: inability to purse lips, wrinkle brow, blow out cheeks, or whistle seen in childhood or
adolescence
Eventual leg involvement may lead to foot drop or proximal leg weakness
May present asymmetrically, such as with one winged scapula
Retinal vascular abnormalities, with the possibility of retinal detachments, are seen occasionally
Hearing loss in children (rare)
Rare tendency for cardiac arrhythmias
Limb-girdle muscular dystrophy:
Weakness can begin in shoulders or pelvis, depending on the subtype, but usually spares the face, eyes, and pharynx
May be clinically indistinguishable from Duchenne or Becker muscular dystrophy
May affect girls as well as boys, from early childhood to late adulthood
Cardiomyopathy is present in patients with some subtypes
Emery-Dreifuss muscular dystrophy:
Gradual muscle weakness and atrophy, especially of the proximal arms and calves
Joint deformities are common, initially affecting the elbows and ankles and later the extensors of the neck and spine
Cardiac conduction abnormalities, with a risk of sudden death (bradycardias and atrial ventricular conduction deficits)
Congenital muscular dystrophy and congenital myopathies:
It is often difficult to distinguish between dystrophic and myopathic forms; dystrophy is more likely to be progressive,
recessively inherited, and often involves the nervous system
Hypotonia in infancy
Joint deformities are common at birth or in infancy
Cognition may be normal, such as in patients with laminin
2
(merosin) deficiency, but severe mental retardation and
seizures are common in patients with other types, such as Fukuyama muscular dystrophy
Ocular abnormalities are often associated with cortical dysplasia, which is seen in several types
Oculopharyngeal muscular dystrophy:
Initially, bilateral progressive ptosis and extraocular muscle weakness may interfere with vision, but diplopia is rare, and
pupils are normal
Dysphagia gradually develops, and patient may lose weight as eating becomes difficult
Other early signs include dysphonia and facial weakness
Weakness may gradually spread to include the neck flexors and proximal limbs
Distal muscular dystrophy:
Most types are characterized by progressive weakness in the distal legs (often anterior compartment weakness causes foot
drop, although the Miyoshi type presents with posterior compartment weakness, causing toe walking and difficulty with
stair climbing). However, a few types, such as Welander myopathy, begin with wasting of hands and forearms
Cardiomyopathy and respiratory insufficiency have been seen in patients with myofibrillar (desmin) myopathy
Physical examination
Look for muscle weakness, noting that the severity and affected muscles vary with the type of muscular dystrophy
Evaluate for percussion or grip myotonia, which is often present in patients with myotonic muscular dystrophy but may
not be prominent or symptomatic
Assess swallowing. Slow progression of swallowing problems is common in patients with oculopharyngeal muscular
dystrophy
Look for cardiac abnormalities. Cardiomyopathy or cardiac conduction deficits may be found in patients with Duchenne,
Becker, limb-girdle, Emery-Dreifuss, and myotonic muscular dystrophies
Check pulmonary function, as pulmonary deficits are common in patients with limb-girdle, Duchenne, Becker, and
myotonic muscular dystrophies
Questions to ask
Presenting condition:
What symptoms are you experiencing? Muscle weakness is the primary symptom of note. The specific muscle groups
affected depend on the type of muscular dystrophy. Patients with fascioscapulohumeral muscular dystrophy may present
with muscle pain or fatigue. Patients with myotonic muscular dystrophy may have cataracts
When did the symptoms begin? The age at onset varies with the type of muscular dystrophy: congenital muscular
dystrophy is apparent at birth, Duchenne muscular dystrophy presents before age 5, Becker and Emery-Dreifuss muscular
dystrophies present in early to late childhood, limb-girdle and distal muscular dystrophies present in early childhood to
adulthood, facioscapulohumeral muscular dystrophy presents before age 20, oculopharyngeal muscular dystrophy
presents in the fifth to sixth decade of life, and myotonic muscular dystrophy can present at any age
What medications do you take? Drugs such as colchicine, chloroquine, amiodarone, -blockers, penicillamine,
cholesterol-lowering agents, thyroid hormones, and cyclosporine are associated with proximal muscle weakness
Have you undergone any genetic testing? Muscular dystrophies are due to chromosomal abnormalities, many of which
have been identified
Family history:
Do any of your family members have similar symptoms? Muscular dystrophies are inherited disorders
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Diagnostic testing
Serum creatine kinase should be measured, as some muscular dystrophies result in characteristic elevation
Gene deletion/mutation studies can confirm the diagnosis of muscular dystrophies for which the associated genes have
been identified
Muscle biopsy is useful to identify specific protein deficiencies and examine typical muscle features
Electromyography allows examination of muscle function
Electrocardiography is necessary to identify cardiac conduction deficits
Magnetic resonance imaging (MRI) is used to assess for associated cerebral abnormalities in patients in whom congenital
muscular dystrophies are suspected
Serum creatine kinase
Description
Venous blood sample
Measurement of the product of muscle breakdown
Normal ranges
Female patients: 20 to 170 IU/L
Male patients: 30 to 200 IU/L
Comments
Results for the various muscular dystrophies are as follows:
Duchenne: levels are 20 to 100 times normal, often 15,000 to 20,000 IU/L
Becker: 5,000 to 7,000 IU/L
Limb-girdle: levels are moderately elevated
Emery-Dreifuss and facioscapulohumeral: levels are mildly or moderately elevated
Myotonic and oculopharyngeal: levels are normal or slightly elevated
Distal: levels are normal to moderately elevated, except in patients with the Miyoshi type, in whom levels are 20
to 150 times the normal level
Congenital: levels are usually elevated, especially postnatally, but then may normalize
Not definitively diagnostic
Elevations may be due to muscle trauma (eg, from intramuscular injections, needle electromyography) or other diseases,
including polymyositis/dermatomyositis, thyroid disease, myocardial infarction, stroke, shock, and sepsis
Abnormal results may be seen in patients taking opiates, dexamethasone, ethanol, digoxin, furosemide, imipramine,
phenobarbital, or lithium
Gene deletion/mutation studies
Description
Venous blood sample
Comments
Confirm the diagnosis of some muscular dystrophies if the affected gene has been identified and a specific laboratory test
exists
Lack of protein expression or mutations within dystrophin, dystrophin-associated proteins, or other genes are linked with
muscular dystrophy; results for various muscular dystrophies are as follows:
Duchenne: dystrophin levels are less than 3% of normal
Becker: dystrophin levels are less than 20% of normal
Emery-Dreifuss: mutations in emerin are present
Myotonic: there is CTG expansion in the dystrophia myotonica protein kinase gene
Will not assist in diagnosis of a muscular dystrophy for which the gene responsible has not been identified, including
point mutations not recognized by the test in genes that have been identified as the cause of disease (HJ, 30% of patients
with Duchenne or Becker muscular dystrophy have decreased or absent dystrophin but a normal test result)
Expensive and may not be reimbursed by some insurance carriers
Muscle biopsy
Description
Muscle specimen, generally from a mild to moderately affected muscle instead of end-stage muscle
Normal result
Uniform fiber size, without central nuclei; a checkerboard pattern of type I and type II muscle fibers; and no degeneration
of muscle cells
Comments
May show pathologic changes of muscle fibers, and immunostaining may identify protein deficits; results for various
muscular dystrophies are as follows:
Duchenne: fiber necrosis, fiber splitting, increased connective tissue and fat, and fiber size variability; complete
lack of dystrophin on immunostaining
Becker: fiber necrosis, fiber splitting, increased connective tissue and fat, and fiber size variability; relative lack
of dystrophin on immunostaining
Emery-Dreifuss: lack of emerin on immunostaining
Limb-girdle: lack of sarcoglycans, caveolin-3, or dysferlin on immunostaining
Congenital: lack of laminin
2
chain or fukutin on immunostaining
Myotonic: excessive central nuclei and type I atrophy
Facioscapulohumeral: degenerating fibers and small angulated fibers with inflammatory cells
Oculopharyngeal: intracytoplasmic rimmed vacuoles or intranuclear inclusions may be seen
Results may be normal in some female carriers of Duchenne muscular dystrophy
Abnormal histologic findings may be seen in patients with polymyositis or dermatomyositis (may be confused with
facioscapulohumeral muscular dystrophy due to the presence of mononuclear inflammatory infiltrates) or toxic,
inflammatory, infectious, or metabolic myopathies
Results may be falsely abnormal if an inadequate sample is taken or if the tissue is normal or too scarred
May be painful, and there is a risk of infection, hematoma, and sensory loss at the wound site
Electromyography
Description
Electrophysiologic test that includes both a nerve conduction test that measures conduction of electrical stimulation of
nerves to help evaluate for neuropathy and a needle examination of affected muscles to assess for signs of myopathy or
denervation
Normal results
Silence at rest and normal muscle action potential discharges with volition
Normal numeric values for motor or sensory nerve conduction velocities
Lack of decrement or increment in compound muscle action potential amplitude with repetitive nerve stimulation
Comments
May assist in the diagnosis of muscular dystrophy; can help differentiate between a myopathy and neuropathy; and also
demonstrates some particular findings, like myotonia, which can narrow the differential diagnosis
Myotonia is seen in patients with myotonic muscular dystrophy; myopathy is seen in patients with facioscapulohumeral,
limb-girdle, Emery-Dreifuss, or distal muscular dystrophy
May confirm the diagnosis of myasthenia gravis
Not definitively diagnostic in some instances; myopathic changes in muscle are often nonspecific
Low limb temperatures are associated with abnormal results; falsely abnormal results also can occur depending on the
muscles and nerves sampled
Needle examination can be uncomfortable
Electrocardiography
Description
Graphic representation of electrical activity of the heart
Comments
May detect potentially lethal cardiac abnormalities in patients with Duchenne, Becker, Emery-Dreifuss, limb-girdle,
distal, or myotonic muscular dystrophy; results for various muscular dystrophies and myopathies are as follows:
Duchenne muscular dystrophy: tall right precordial R waves and deep left precordial Q waves are seen in 90% of
patients
Emery-Dreifuss and myotonic muscular dystrophies: sinus bradycardia, prolongation of the PR interval,
conduction block
Myofibrillar (desmin) myopathy: heart block and arrhythmias
Detection of cardiac conduction deficits permits early treatment and may be lifesaving
Only shows cardiac activity for a short period of time; 24-hour (Holter) monitoring should be considered if arrhythmias
are strongly suspected
Cardiac arrhythmias and some drugs, including antiarrhythmic agents, may cause cardiac conduction abnormalities
MRI
Description
Nonradiographic brain imaging modality providing high resolution in cross-sectional and longitudinal views
Comments
May assist in the diagnosis of congenital muscular dystrophies; may show poor white matter myelination in infancy or
polymicrogyria,
hydrocephalus, or hypoplastic corticospinal tracts
Scans can appear normal, even in affected children; neonates with congenital muscular dystrophy may have minimal
myelination
Usually done in infants and small children, in whom sedation is required, with its associated risks
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Differential diagnosis
Myasthenia gravis
Myasthenia gravis is an autoimmune disorder of neuromuscular transmission
Characterized by variable muscle weakness that is worsened by exercise and improved with rest
Initial symptoms often include ptosis, diplopia, dysphagia, or eyelid closure weakness; approximately 50% of patients
develop generalized weakness
develop generalized weakness
Patients may experience difficulty chewing and dysarthria and may have an abnormal-appearing smile
Onset is often in adulthood, with muscle fatigability being the most common symptom reported
Endocrine causes of proximal muscle weakness
Thyroid disease, hyperparathyroidism, Cushing syndrome, and adrenal insufficiency can cause proximal muscle
weakness, fatigability, and myalgias
Acromegaly and hypopituitarism can be associated with proximal muscle weakness
Poorly controlled diabetes mellitus with vasculopathy can infarct muscle, usually in the thigh, causing weakness and a
tender muscle mass
Hypokalemia (serum potassium level usually <3 mEq/L) may produce severe proximal weakness, with cramps, elevated
creatine kinase levels, rhabdomyolysis, and electrocardiographic changes
Hypophosphatemia (serum phosphate level usually <0.4 mmol/L) also is associated with muscle weakness and
rhabdomyolysis
Hypermagnesemia and hyperkalemia (serum potassium level usually >7 mEq/L) can cause generalized weakness
Hypomagnesemia can cause lethargy and weakness, even when accompanied by hypocalcemia, which is associated with
tetany
Hypercalcemia can cause subjective feelings of weakness
Metabolic causes of proximal muscle weakness
Diseases of glycogen storage and lipid metabolism can cause either progressive muscle weakness or varying degrees of
exercise-induced cramping and myoglobinuria
Progressive proximal muscle weakness and exercise intolerance are among the symptoms associated with mitochondrial
myopathies
Inflammatory causes of proximal muscle weakness
Dermatomyositis can occur at any age with proximal greater than distal weakness and a rash that usually starts on the
fingers and around the eyes but may include the face and neck
Polymyositis also is characterized by proximal greater than distal weakness and affects all muscle types, so patients
(usually adults) also may develop congestive heart failure or dysphagia
Either polymyositis or dermatomyositis can overlap with connective tissue diseases
Inclusion body myositis causes gradually progressive proximal and distal weakness in older adults
Polymyalgia rheumatica is characterized by muscle pain and fatigue, although not usually true weakness, in elderly
adults and is linked to giant cell arteritis
Human immunodeficiency virus myositis is a proximal myopathy that is usually painless and is associated with a high
creatine kinase level
Medication-induced proximal muscle weakness
May be seen in patients taking steroids, colchicine, chloroquine, amiodarone, -blockers, penicillamine, cholesterol-
lowering agents, or cyclosporine
Although muscle weakness may begin shortly after starting the medication, it may also develop over years
Combinations of certain medications are associated with a higher risk than the individual agents, especially in patients
with renal failure. The rate of necrotizing myopathy triggered by cholesterol-lowering agents is higher in patients with
renal insufficiency who are taking other medications (HJ, cyclosporine) concomitantly
Spinal muscular atrophies
Characterized by degeneration of anterior horn cells of the spinal cord and motor neurons of the brainstem
Hypotonia, flaccid weakness, decreased or absent deep tendon reflexes, fasciculations, and atrophy may be present
Limb deformities develop, with progressive weakness
Infantile, childhood, and adult forms exist
Nondystrophic myotonias and channelopathies
Nondystrophic myotonias, such as myotonia congenita (Thomsen disease), lack the weakness and wasting that are
characteristic of dystrophic myotonia, and systemic abnormalities do not occur
Due to myotonia, there is excessive stiffness and impaired relaxation after voluntary muscle contraction or percussion;
relaxation after a tight grip or tight eyelid closure is very slow
Myotonia is observed on muscle percussion, and electromyography readily elicits electrical myotonia
Inheritance is usually dominant. Progressive weakness seldom occurs, except in some patients with a recessive form of
myotonia congenita (Becker generalized myotonia)
Periodic paralyses are paroxysmal disorders of weakness with normalcy between episodes; permanent weakness is very
rare
Because nondystrophic myotonias and periodic paralyses are caused by mutations of various muscle ion channels, the
term 'channelopathies' is also used to describe this group of disorders
Channelopathies are not difficult to distinguish from dystrophies because systemic abnormalities and permanent
weakness are absent, stiffness is prominent, and the symptoms are of a paroxysmal nature. They are mentioned here only
because of the potential for confusion due to overlapping terminology and because the primary organ of involvement is
muscle
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Consultation
Most patients with progressive muscular dystrophy and myopathy need to be referred to a neurologist with special
expertise in neuromuscular diseases for appropriate diagnostic evaluation, which could include electromyography,
genetic testing, and muscle biopsy, if necessary
Careful clinical assessment by a neurologist is necessary in patients with weakness of uncertain etiology. At times,
weakness of diverse etiologies may simulate the weakness of muscular dystrophy. For instance, slowly progressive facial
and bulbar weakness with fasciculations, as seen in patients with the rare, sex-linked, recessive Kennedy disease, may
mimic myotonic dystrophy, and muscle atrophy due to myotonia congenita in young patients may mimic Duchenne
muscular dystrophy
Respiratory muscle weakness and ventilatory compromise occur as a result of many muscular dystrophies. Early and
anticipatory consultations with a pulmonologist, physiatrist, sleep specialist, and nutritionist are worthwhile and are best
facilitated by a child or adult neurologist
Treatment
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Summary approach
Muscular dystrophies are inherited disorders with no known cures
The goals of treatment are to prevent and correct skeletal abnormalities, slow the progression of disease, maintain
ambulation for as long as possible, and to prevent associated complications
Prednisone may improve muscle strength in patients with Duchenne muscular dystrophy
Phenytoin and mexiletine are useful for symptomatic relief of bothersome myotonia in patients with myotonic muscular
dystrophy
Several other medications, including calcium channel blockers, albuterol, psychostimulants, steroid-sparing
immunosuppressants (cyclosporine A, azathioprine), creatine and amino acid supplements (glutamine, leucine), xanthine
oxidase inhibitors (allopurinol), ergot alkaloids (methysergide), chelators (penicillamine), mazindol, isaxonine, and
superoxide dismutase, have been studied in patients with muscle disorders and shown to be ineffective or could not be
recommended on the basis of inadequate data; further studies are necessary
Surgery may be required to correct skeletal abnormalities and maintain ambulation
Orthoses may be an alternative for maintaining ambulation in patients who are unable or unwilling to undergo surgery
Physical therapy helps patients to remain independent, as passive exercises minimize the development of contractures
Occupational therapy assists patients with the functions of daily living
Cardiac pacemakers may be necessary to prevent sudden death from cardiac complications
Positive pressure ventilation and other respiratory support measures may be necessary to treat respiratory insufficiency
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Medications
Prednisone [EBM]
Indication
Prednisone is used for the symptomatic treatment of Duchenne muscular dystrophy; this is an off-label indication
Dose information
In children:
0.75 mg/kg/d or 1.5 mg/kg every other day orally to improve or sustain muscle function
As the child grows, the dose per kilogram may need to be decreased (eg, to 0.50 mg/kg/d or as tolerated)
Major contraindications
Fungal infection
Comments
Appears to prolong ambulation by up to 4 years and may decrease apoptosis of myotubes, decelerate myofiber necrosis,
and improve strength
Doses higher than 7.5 mg for 3 weeks or longer may lead to clinically relevant suppression of the pituitary-adrenal axis
Evidence
A systematic review of six randomized, controlled trials (RCTs) evaluating the effect of corticosteroids on muscle
strength and function in children with Duchenne muscular dystrophy found that steroid therapy increased muscle
strength and function in the short term (6 months to 2 years), but the long-term benefit remains unclear. The reviewers
caution that any benefit must be weighed against the long-term adverse effects of long-term steroid use.[1]Level of
evidence: 1
A systematic review included a single double-blind trial comparing the effects of two different daily doses of prednisone
(0.75 mg/kg/d and 1.5 mg/kg/d) versus placebo on ankle dorsiflexion range of motion in 103 boys with Duchenne
muscular dystrophy. No significant differences were seen after treatment for 6 months with either dose of prednisone
compared to placebo, but the 0.75-mg/kg/d dose resulted in significant improvements in some strength and function
parameters. The higher dose did not confer additional functional benefit.[2]Level of evidence: 1
An American Academy of Neurology practice parameter supports the use of prednisone at a dose of 0.75 mg/kg/d for the
treatment of Duchenne muscular dystrophy based on the results of seven class I studies and numerous less rigorous
studies showing that prednisone has a beneficial effect on muscle strength and function in boys with Duchenne muscular
dystrophy. Two class I studies found that lower doses (0.30 mg/kg/d and 0.35 mg/kg/d) may provide similar, although
milder, benefits, with fewer adverse effects; therefore, tapering the dose may be a viable option for patients who cannot
tolerate higher doses. The benefits and adverse effects of corticosteroid therapy need to be monitored.[3]Level of
evidence: 3
Learn about evidence grading system
Phenytoin
Indication
Phenytoin is used to treat myotonia in patients with myotonic dystrophy; this is an off-label indication
Dose information
Variable, depending on the patient's weight and clinical symptoms, but generally 200 to 400 mg/d, titrated to control
symptoms but not to exceed standard serum levels (to avoid toxicity)
Major contraindications
Adams-Stokes syndrome
Atrioventricular block
Bradycardia
Hypersensitivity to hydantoin
Comments
Relatively safe for the treatment myotonia, as alternatives (quinine, tocainide) can exacerbate cardiac arrhythmias to
various degrees
Mexiletine [EBM]
Indication
Mexiletine is used to reduce handgrip relaxation time in patients with myotonic muscular dystrophy type 1; this is an off-
label indication
Dose information
150 to 200 mg three times daily for 7 weeks
Major contraindications
Atrioventricular block
Cardiogenic shock
Comments
Considered to be a safe and effective treatment for myotonia
Evidence
Two prospective, randomized, double-blind, placebo-controlled, crossover trials were conducted to evaluate the effects of
mexiletine, 150 mg three times a day and 200 mg three times a day, on handgrip myotonia and cardiac conduction in
patients with myotonic muscular dystrophy type 1. Twenty patients participated in each of the two trials, making them
the largest such trials conducted to date. Both doses were effective in reducing handgrip myotonia in the short term and
were well tolerated, without producing significant adverse events or cardiac conduction abnormalities. Patients with
significant preexisting cardiac disease were notably excluded from participation.[4]Level of evidence: 1
Learn about evidence grading system
Back to Top
Non-drug treatments
Surgery [EBM]
Surgical fixture of contractures may extend ambulation and prolong independent function
Walker-assisted ambulation should begin as soon as possible following surgery
Depending on the type of surgery, casts may be worn for 4 to 6 weeks
Associated with pain and the possibility of infection
Surgeons have different levels of experience with these procedures
Evidence
Surgical interventions are beneficial in selected patients with muscular dystrophy.
A systematic review evaluating the evidence for the relative efficacy of scapular fixation techniques in improving upper
limb function in patients with muscular dystrophy, especially facioscapulohumeral muscular dystrophy, found that
surgical interventions appear to produce significant benefits, but these must be balanced against postoperative
immobilization, need for physiotherapy, and potential complications.[5]Level of evidence: 1
A systematic review included a single RCT comparing the effect of early surgery versus that of nonsurgical manual
stretching on ankle dorsiflexion in 20 boys with Duchenne muscular dystrophy. Increased range of motion was seen in
the surgical group at 12 months, but this effect was not maintained at the 24 month follow-up. Functional outcomes
favored the nonsurgical group.[2]Level of evidence: 1
Although prospective and retrospective case series have suggested potential benefit, no RCTs have been conducted to
assess the effectiveness of scoliosis surgery in patients with Duchenne muscular dystrophy. Further studies are needed
before evidence-based recommendations can be made.[6]Level of evidence: 1
Learn about evidence grading system
Orthoses
Aid in posture correction and may assist in independent ambulation
Patience is required to ensure successful fitting and effective treatment
The fit should be reassessed periodically and frequently in growing children
Physical therapy [EBM]
Exercise and passive stretching may improve muscle strength and range of motion, slow the progression of weakness,
reduce contractures, and promote functional independence
Patients should be instructed to continue the prescribed exercises and stretching at home; encouragement and support are
required
Overexertion can cause fatigue
Muscle function should be assessed regularly
Evidence
There is insufficient evidence that exercise and other physical therapy measures improve function in patients with some forms of
muscular dystrophy.
A systematic review found insufficient evidence that moderate-intensity strength training is beneficial in patients with
myotonic muscular dystrophy or facioscapulohumeral muscular dystrophy, but it does not appear to be harmful.[7]Level
of evidence: 1
Another systematic review found level III (ie, 'indications of effectiveness') evidence of the effectiveness of aerobic
exercise in patients with muscle disorders. Although there was insufficient evidence of the effectiveness of muscle
strengthening exercises alone, the effectiveness of the combination of muscle strengthening exercises and aerobic
exercise was supported by level II (ie, 'likely to be effective') evidence.[8]Level of evidence: 1
Learn about evidence grading system
Occupational therapy
Interactions will be patient specific
Assistance devices, such as wrist splints, braces, and wheelchairs, may assist patients with ambulation and activities of
daily living
May permit independent living for extended periods of time, enhances quality of life, and facilitates coping and
adaptation by the patient
Encouragement and support are important; periodic follow-up may be required to ensure that adaptive devices are still
being used properly and are functioning well
Cardiac pacemaker
Mimics atrial ventricular synchrony, eliminating the need for antiarrhythmic drugs and preventing cardiac arrhythmias
and sudden death due to cardiac events
Surgical implantation is associated with pain and the risk of possible infection
Failures may result from battery depletion, loose connections between the pacing lead and the generator, or increases in
the pacing threshold due to local tissue reactions or drugs
Electrocardiography should be done yearly following surgical implantation
Positive pressure ventilation and other respiratory supportive measures
Improve lung function and prolong life expectancy
Pulmonary function should be assessed at every follow-up visit
Skin bruises and tissue necrosis can be minimized with the use of an adequately sized mask, careful placement of the
mask, and placement of a hydrocolloid dressing between the skin and the mask
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Special circumstances
Comorbidities
Perioperative management of patients with neuromuscular disorders, especially myotonic muscular dystrophy and some
other muscular dystrophies, congenital myopathies, and myotonia congenita, requires special expertise. Some patients
may be prone to the development of malignant hyperthermia syndrome, and some may experience adverse reactions to
anesthetic agents, with subsequent difficulty from ventilator weaning. If surgery is anticipated, all caregivers should be
alerted in advance, especially the anesthesiology team, surgeons, and postoperative caregivers
In pregnant patients with myotonic muscular dystrophy, labor can be complicated due to uterine abnormalities
Patient satisfaction/lifestyle priorities
Patient goals include preservation of muscle function, retention of independence for as long as possible, and prolongation of life
expectancy.
Back to Top
Consultation
Patients with neuromuscular disorders should be referred to the following specialists:
Neuromuscular specialist for treatment
Physical therapist for maintenance of neuromuscular function and minimization of contractures
Orthotist for fitting of orthoses to assist in walking and to delay the onset of scoliosis
Orthopedic surgeon for release of contractures or fixation of joints
Pulmonologist for respiratory difficulties
Cardiologist for cardiac complications
Ophthalmologist for vision difficulties
Genetic counselor for assistance in family planning
Follow-up
Monitoring
Patients should be assessed regularly by a multidisciplinary team of health care professionals
The importance of regular follow-up to monitor progression of disease should be emphasized, as progression may occur
so gradually that the patient's family is unaware
Muscle function, contractures, visual function, seizures (in patients with congenital muscular dystrophy), ability to
perform activities of daily living, and cardiopulmonary function should be monitored regularly at each visit
Prognosis
Patients with Duchenne, Becker, and some limb-girdle muscular dystrophies experience progressive muscle weakness,
contractures, inability to ambulate, kyphoscoliosis, and respiratory dysfunction. Duchenne muscular dystrophy can be
fatal by age 20 due to respiratory insufficiency if ventilatory support is not provided (life expectancy is less than 1 year
once diurnal hypercapnia develops), whereas patients with Becker muscular dystrophy often survive until the fourth or
fifth decade before developing respiratory problems
Neonatal-onset myotonic muscular dystrophy can be fatal in up to one quarter of patients due to pulmonary compromise;
mental retardation and the classic form of the disease are present in patients who survive infancy
Patients with congenital muscular dystrophy are at increased risk of death from respiratory failure. Severe weakness limits
their ability to eventually walk or perform activities of daily living, and patients with profound brain involvement often
die before the age of 20
Patients with other muscular dystrophies experience slow, progressive muscle weakness and have a nearly normal
lifespan
Regardless of the treatment approaches used, the muscular dystrophy will continue to progress, with worsening muscle
weakness and more affected muscle groups
Management by a multidisciplinary team of health care professionals is required to prevent complications and extend the
patient's life; positive pressure ventilation is indicated when respiratory function declines
Complications
Duchenne muscular dystrophy:
Respiratory infections and respiratory failure in the later stages
Cardiac conduction deficits
Dysphagia or acute gastric dilation
Malignant hyperthermia
Becker, Emery-Dreifuss, and some forms of distal and limb-girdle muscular dystrophies:
Cardiac conduction deficits
Myotonic muscular dystrophy:
Cataracts
Dysphagia or acute gastric dilation
Endocrinopathies
Respiratory failure in patients with the congenital form
Congenital muscular dystrophy:
Seizures
Mental retardation
Speech problems
Oculopharyngeal muscular dystrophy:
Swallowing problems, including choking
Recurrent pneumonia
Facioscapulohumeral muscular dystrophy:
Hypertension
Hearing loss
Retinal detachment
Patient education
Muscular dystrophies are a group of inherited diseases caused by deletions or mutations in proteins
The conditions are characterized by progressive weakness and degeneration of muscles and differ in severity, age of
onset, muscles first and most frequently affected, progression of symptoms, and method of inheritance
Patients of all ages can be affected
In patients with Duchenne muscular dystrophy, the lifespan is shortened due to complications, with patients rarely
surviving beyond their late twenties. However, other muscular dystrophies (myotonic, congenital, limb-girdle, Emery-
Dreifuss, and Becker muscular dystrophies) progress slowly, and facioscapulohumeral and distal muscular dystrophies
generally are not life threatening
Prevention and correction of skeletal abnormalities are necessary to maintain ambulation. Aggressive stretching, bracing,
and orthopedic procedures also help to maintain independence
Genetic counseling is available to assist in family planning
Back to Top
Online information for patients
Facioscapulohumeral Muscular Dystrophy Society
Genetics Home Reference:
Duchenne and Becker muscular dystrophy
Emery-Dreifuss muscular dystrophy
Facioscapulohumeral muscular dystrophy
Fukuyama congenital muscular dystrophy
Oculopharyngeal muscular dystrophy
Tibial muscular dystrophy
Ullrich congenital muscular dystrophy
Muscular Dystrophy Association
Muscular Dystrophy Family Foundation
National Human Genome Institute: Learning About Duchenne Muscular Dystrophy
National Institute of Neurological Disorders and Stroke: NINDS Muscular Dystrophy Information Page
Parent Project Muscular Dystrophy
Resources
Back to Top
Summary of evidence
Evidence
There is evidence that corticosteroids are beneficial in the treatment of Duchenne muscular dystrophy.
A systematic review of six RCTs evaluating the effect of corticosteroids on muscle strength and function in children with
Duchenne muscular dystrophy found that steroid therapy increased muscle strength and function in the short term (6
months to 2 years), but the long-term benefit remains unclear. The reviewers caution that any benefit must be weighed
against the long-term adverse effects of long-term steroid use.[1]Level of evidence: 1
A systematic review included a single double-blind trial comparing the effects of two different daily doses of prednisone
(0.75 mg/kg/d and 1.5 mg/kg/d) versus placebo on ankle dorsiflexion range of motion in 103 boys with Duchenne
muscular dystrophy. No significant differences were seen after treatment for 6 months with either dose of prednisone
compared to placebo, but the 0.75-mg/kg/d dose resulted in significant improvements in some strength and function
parameters. The higher dose did not confer additional functional benefit.[2]Level of evidence: 1
An American Academy of Neurology practice parameter supports the use of prednisone at a dose of 0.75 mg/kg/d for the
treatment of Duchenne muscular dystrophy based on the results of seven class I studies and numerous less rigorous
studies showing that prednisone has a beneficial effect on muscle strength and function in boys with Duchenne muscular
dystrophy. Two class I studies found that lower doses (0.30 mg/kg/d and 0.35 mg/kg/d) may provide similar, although
milder, benefits, with fewer adverse effects; therefore, tapering the dose may be a viable option for patients who cannot
tolerate higher doses. The benefits and adverse effects of corticosteroid therapy need to be monitored.[3]Level of
evidence: 3
There is evidence that mexiletine is beneficial in the treatment of handgrip myotonia in patients with myotonic muscular
dystrophy type 1.
Two prospective, randomized, double-blind, placebo-controlled, crossover trials were conducted to evaluate the effects of
mexiletine, 150 mg three times a day and 200 mg three times a day, on handgrip myotonia and cardiac conduction in
patients with myotonic muscular dystrophy type 1. Twenty patients participated in each of the two trials, making them
the largest such trials conducted to date. Both doses were effective in reducing handgrip myotonia in the short term and
were well tolerated, without producing significant adverse events or cardiac conduction abnormalities. Patients with
significant preexisting cardiac disease were notably excluded from participation.[4]Level of evidence: 1
Surgical interventions are beneficial in selected patients with muscular dystrophy.
A systematic review evaluating the evidence for the relative efficacy of scapular fixation techniques in improving upper
limb function in patients with muscular dystrophy, especially facioscapulohumeral muscular dystrophy, found that
surgical interventions appear to produce significant benefits, but these must be balanced against postoperative
immobilization, need for physiotherapy, and potential complications.[5]Level of evidence: 1
A systematic review included a single RCT comparing the effect of early surgery versus that of nonsurgical manual
stretching on ankle dorsiflexion in 20 boys with Duchenne muscular dystrophy. Increased range of motion was seen in
the surgical group at 12 months, but this effect was not maintained at the 24 month follow-up. Functional outcomes
favored the nonsurgical group.[2]Level of evidence: 1
Although prospective and retrospective case series have suggested potential benefit, no RCTs have been conducted to
assess the effectiveness of scoliosis surgery in patients with Duchenne muscular dystrophy. Further studies are needed
before evidence-based recommendations can be made.[6]Level of evidence: 1
There is insufficient evidence that exercise and other physical therapy measures improve function in patients with some forms of
muscular dystrophy.
A systematic review found insufficient evidence that moderate-intensity strength training is beneficial in patients with
myotonic muscular dystrophy or facioscapulohumeral muscular dystrophy, but it does not appear to be harmful.[7]Level
of evidence: 1
Another systematic review found level III (ie, 'indications of effectiveness') evidence of the effectiveness of aerobic
exercise in patients with muscle disorders. Although there was insufficient evidence of the effectiveness of muscle
strengthening exercises alone, the effectiveness of the combination of muscle strengthening exercises and aerobic
exercise was supported by level II (ie, 'likely to be effective') evidence.[8]Level of evidence: 1
Back to Top
References
Evidence references
[1] Manzur AY, Kuntzer T, Pike M, Swan A. Glucocorticoid corticosteroids for Duchenne muscular dystrophy. Cochrane
Database Syst Rev. 2008:CD003725
PubMed CrossRef
[2] Rose KJ, Burns J, Wheeler DM, North KN. Interventions for increasing ankle range of motion in patients with neuromuscular
disease. Cochrane Database Syst Rev. 2010:CD006973
PubMed CrossRef
[3] Moxley RT 3rd, Ashwal S, Pandya S, et al. Practice parameter: corticosteroid treatment of Duchenne dystrophy: report of the
Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology
Society. Neurology. 2005;64:13-20
PubMed CrossRef
[4] Logigian EL, Martens WB, Moxley RT 4th, et al. Mexiletine is an effective antimyotonia treatment in myotonic dystrophy
type 1. Neurology. 2010;74:1441-8
PubMed CrossRef
[5] Orrell RW, Copeland S, Rose MR. Scapular fixation in muscular dystrophy. Cochrane Database Syst Rev. 2010:CD003278
PubMed CrossRef
[6] Cheuk DK, Wong V, Wraige E, et al. Surgery for scoliosis in Duchenne muscular dystrophy. Cochrane Database Syst Rev.
2007:CD005375
PubMed CrossRef
[7] Voet NB, van der Kooi EL, Riphagen II, Lindeman E, van Engelen BG, Geurts AC. Strength training and aerobic exercise
training for muscle disease. Cochrane Database Syst Rev. 2010:CD003907
PubMed CrossRef
[8] Cup EH, Pieterse AJ, Ten Broek-Pastoor JM, et al. Exercise therapy and other types of physical therapy for patients with
neuromuscular diseases: a systematic review. Arch Phys Med Rehabil. 2007;88:1452-64
PubMed CrossRef
Guidelines
The American Academy of Neurology has produced the following:
Moxley RT 3rd, Ashwal S, Pandya S, et al. Practice parameter: corticosteroid treatment of Duchenne dystrophy. Report of
the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child
Neurology Society. Neurology. 2005;64:13-20
The American College of Chest Physicians has produced the following:
Birnkrant DJ, Panitch HB, Benditt JO, et al. American College of Chest Physicians consensus statement on the respiratory
and related management of patients with Duchenne muscular dystrophy undergoing anesthesia or sedation. Chest.
2007;132:1977-86
The American Thoracic Society has produced the following:
Finder JD, Birnkrant D, Carl J, et al. Respiratory care of the patient with Duchenne muscular dystrophy: ATS consensus
statement. Am J Respir Crit Care Med. 2004;170:456-65
The American Academy of Pediatrics has produced the following:
American Academy of Pediatrics Section on Cardiology and Cardiac Surgery. Cardiovascular health supervision for
individuals affected by Duchenne or Becker muscular dystrophy. Pediatrics. 2005;116:1569-73
Further reading
Rocha CT, Hoffman EP. Limb-girdle and congenital muscular dystrophies: current diagnostics, management, and
emerging technologies. Curr Neurol Neurosci Rep. 2010;10:267-76
McNally EM, Pytel P. Muscle diseases: the muscular dystrophies. Annu Rev Pathol. 2007;2:87-109
Cardamone M, Darras BT, Ryan MM. Inherited myopathies and muscular dystrophies. Semin Neurol. 2008;28:250-9
Kissel JT, Mendell JR. Muscular dystrophy: historical overview and classification in the genetic era. Semin Neurol.
1999;19:5-7
Bnnemann CG. Limb-girdle muscular dystrophy in childhood. Pediatr Ann. 2005;34:569-77
Mercuri E, Longman C. Congenital muscular dystrophy. Pediatr Ann. 2005;34:560-2, 564-8
Weidner NJ. Developing an interdisciplinary palliative care plan for the patient with muscular dystrophy. Pediatr Ann.
2005;34:546-52
Kalra M, Amin RS. Pulmonary management of the patient with muscular dystrophy. Pediatr Ann. 2005;34:539-45
Markham LW, Spicer RL, Cripe LH. The heart in muscular dystrophy. Pediatr Ann. 2005;34:531-5
El-Bohy AA, Wong BL. The diagnosis of muscular dystrophy. Pediatr Ann. 2005;34:525-30
Shulman ST. Muscular dystrophies. Pediatr Ann. 2005;34:506
Wong BL. Muscular dystrophies. Pediatr Ann. 2005;34:507-10
Jansen M, de Groot IJ, van Alfen N, Geurts AC. Physical training in boys with Duchenne muscular dystrophy: the
protocol of the No Use is Disuse study. BMC Pediatr. 2010;10:55
Carter GT, Weiss MD, Chamberlain JR, et al. Aging with muscular dystrophy: pathophysiology and clinical management.
Phys Med Rehabil Clin N Am. 2010;21:429-50
Bushby K, Finkel R, Birnkrant DJ, et al. Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis,
and pharmacological and psychosocial management. Lancet Neurol. 2010;9:77-93.
Bushby K, Finkel R, Birnkrant DJ, et al. Diagnosis and management of Duchenne muscular dystrophy, part 2:
implementation of multidisciplinary care. Lancet Neurol. 2010;9:177-89
Bertorini T. Perisurgical management of patients with neuromuscular disorders. Neurol Clin. 2004;22:293-313
Brambrink AM, Kirsch JR. Perioperative care of patients with neuromuscular disease and dysfunction. Anesthesiol Clin.
2007;25:483-509, viii-ix
Back to Top
Codes
ICD-9 code
359 Muscular dystrophies and other myopathies
359.0 Congenital hereditary muscular dystrophy
359.1 Hereditary progressive muscular dystrophy
359.2 Myotonic dystrophy
Back to Top
FAQ
When should boys with Duchenne muscular dystrophy begin taking steroids? Because the goal is to preserve
ambulation for as long as possible, steroids should be considered in middle childhood (approximately 6-10 years of age),
when the patient is still ambulatory but beginning to have serious difficulty walking. The benefits of steroid treatment
after the child is confined to a wheelchair are less clear
What should be done when a child with Duchenne muscular dystrophy begins experiencing adverse effects of steroid
treatment? Tapering and discontinuation of steroids is an option when adverse effects are problematic. However,
continuing steroid treatment at a reduced dose may also be considered. For example, some studies have found that
smaller steroid doses per kilogram of body weight are beneficial. Thus, a dose of 0.75 mg/kg/d that was started at age 6
could be reduced to 0.50 mg/kg/d at age 9
What is the role of respiratory support in patients with muscular dystrophies? Noninvasive ventilatory support has
been shown to prolong survival in patients with Duchenne muscular dystrophy and provides symptomatic relief in
patients with other muscular dystrophies. However, muscular dystrophies are progressive, and the issue of whether the
patient would be interested in invasive ventilatory support should be addressed before respiratory compromise develops
When is surgical therapy appropriate? Studies have shown that surgical release of contractures can prolong ambulation
and slow the development of scoliosis in patients with Duchenne muscular dystrophy. As with any procedure, the
experience of orthopedic surgeons differs. Scoliosis surgery can be considered to help decrease the effects of Duchenne
muscular dystrophy on respiratory function in adolescents
How is late-onset limb-girdle muscular dystrophy distinguished from an inflammatory myopathy, such as
polymyositis, in a young adult presenting with gradual onset of proximal muscle weakness and a moderately
elevated serum creatine kinase level? The presence of other symptoms or signs of inflammation or a connective tissue
disease (which would suggest an overlap syndrome) favors the diagnosis of an inflammatory myopathy. A family history
of muscle disease favors the diagnosis of late-onset limb-girdle muscular dystrophy. Although inflammatory myopathies
often have more acute onset and are associated with higher creatine kinase levels than limb-girdle muscular dystrophy, it
may not always be easy to differentiate between the two syndromes. Electromyography often shows features of irritability
and abnormal discharges in patients with inflammatory myopathies. Even a muscle biopsy may not be entirely
diagnostic, as there may be mild to moderate inflammation in a patient with muscular dystrophy. Ultimately, a trial of
oral steroids can be used; an inflammatory myopathy may respond to this treatment, but a limb-girdle muscular dystrophy
will not
Contributors
Rose Domingo, MD
Saty Satya-Murti, MD, FAAN
Gordon H. Baustian, MD
[1] Manzur AY, Kuntzer T, Pike M, Swan A. Glucocorticoid corticosteroids for Duchenne muscular dystrophy. Cochrane
Database Syst Rev. 2008:CD003725
PubMed CrossRef
[2] Rose KJ, Burns J, Wheeler DM, North KN. Interventions for increasing ankle range of motion in patients with neuromuscular
disease. Cochrane Database Syst Rev. 2010:CD006973
PubMed CrossRef
[3] Moxley RT 3rd, Ashwal S, Pandya S, et al. Practice parameter: corticosteroid treatment of Duchenne dystrophy: report of the
Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology
Society. Neurology. 2005;64:13-20
PubMed CrossRef
[4] Logigian EL, Martens WB, Moxley RT 4th, et al. Mexiletine is an effective antimyotonia treatment in myotonic dystrophy
type 1. Neurology. 2010;74:1441-8
PubMed CrossRef
[5] Orrell RW, Copeland S, Rose MR. Scapular fixation in muscular dystrophy. Cochrane Database Syst Rev. 2010:CD003278
PubMed CrossRef
[6] Cheuk DK, Wong V, Wraige E, et al. Surgery for scoliosis in Duchenne muscular dystrophy. Cochrane Database Syst Rev.
2007:CD005375
PubMed CrossRef
[7] Voet NB, van der Kooi EL, Riphagen II, Lindeman E, van Engelen BG, Geurts AC. Strength training and aerobic exercise
training for muscle disease. Cochrane Database Syst Rev. 2010:CD003907
PubMed CrossRef
[8] Cup EH, Pieterse AJ, Ten Broek-Pastoor JM, et al. Exercise therapy and other types of physical therapy for patients with
neuromuscular diseases: a systematic review. Arch Phys Med Rehabil. 2007;88:1452-64
PubMed CrossRef
Revised: 22 Mar 2011
Last updated: 21 Mar 2011
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