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Facioscapulohumoral MD
Inherited as an autosomal dominant disorder with
onset in early adolescence . Characterized by difficulty in raising the arms over the head,, lack of facial mobility, and a forward slope of the shoulders. Progression is slow and life span is usually unaffected.
Limb Girdle MD
Autosomal recessive disease of later childhood,
adolescence, or early adulthood with bariable but usually slow progression. Characterized by weakness ofr proximal muscles of the pelvic and shoulder girdles.
Beckers MD
Results from mutations of the gene that encodes
dystrophin, however it is not absent, rather severley decreased. Same symptoms of DMD, however later onset. 1 in 30,000 births
Treatment of MDs
Supportive PT, orthopedic procedures, Ventilatory support
skeletal muscle
Characteristics of DMD
Onset between ages 3 and 5 years Progressive muscle weakness, wasting, and
contractures Calf muscles hypertrophy in most patients Progressive generalized weakness in adolescence Death from respiratory or cardiac failure Males are affected almost exclusively. Most children reach developmental milestones early in life therefore masking progression of the disease.
Lordosis
Enlarged muscles, pseudohypertrophy, especially
thighs and upper arms Evidence of muscle weakness appears during 3rd to 7th year. Difficulty climbing stairs, riding bike, walking, and running are first symptoms.
muscles of repsiration and cardiovascular involvement. Cardiomyopathy, dysrhythmias, and heart failure are common Profound muscular atrophy in later stages causing contractures and deformities. Mental deficiency common
muscles as long as possible Keep child as active as possible ROM, bracing, performance of ADLs, surgical release of contractures prn Genetic counseling for family Involve parents in making decisions about the childs care including keeping all appointments. Encourage parents to immunize children for influenza and pneumonia
central focus because of abnormal breathing patterns particularly during REM sleep. This may result in hypoxia. Therefore, discussion of long-term ventilation options should take place. May use BiPAP temporarily or full-time. Mechanically Assisted Cough or tracheotomy may be used to relieve airway obstruction. Home pulse oximetry may be used to monitor oxygenation during sleep
noninvasive ventliation and MAC as alternatives to tracheotomy and airway suctioning AAP recommends an extensive cardiac evaluation of the child diagnosed with DMD since they may not present with typical signs and symptoms of cardiac dysfunction. Genetic counseling is also recommended for parents, sisters, and maternal aunts and their daughters. Long-term care, end-of life directives , and palliative care options should be discusses with parents and children
debilitating disease. Design plan to foster independence and activity as long as possible Teach child self-help skills Allow child to participate in decision making for care. Appropriate health care assistance as childs needs intensify (home health, skilled nursing facility, respite care, etc.) Give referrals for support groups