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    Friedreich Ataxia, A Simple Guide To The Condition, Diagnosis, Treatment And Related Conditions
    Friedreich Ataxia, A Simple Guide To The Condition, Diagnosis, Treatment And Related Conditions
    Friedreich Ataxia, A Simple Guide To The Condition, Diagnosis, Treatment And Related Conditions
    Ebook114 pages53 minutes

    Friedreich Ataxia, A Simple Guide To The Condition, Diagnosis, Treatment And Related Conditions

    By Kenneth Kee

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    About this ebook

    Friedreich ataxia is a rare disease and the most frequent inherited ataxia.
    It is a degenerative disorder that mainly affects the nervous system, muscles and the heart.
    It is often linked with cardiomyopathy or diabetes
    There is progressive ataxia (in-coordination of muscles), dysarthria, reduced proprioception, vibration sense and muscle weakness.
    The inheritance is autosomal recessive.
    Cause
    The gene disorder is a mutation of the frataxin gene (FXN) on chromosome 9.
    Many patients (98%) have a GAA repeat expansion of the frataxin gene with the size of the expansion correlating with the severity of the disease
    More infrequently there is a point mutation in one gene.
    The mutation leads to reduced synthesis of frataxin, a mitochondrial protein.
    Its poor function leads to mitochondrial dysfunction and oxidative injury to cells
    The cellular injury mainly involves the nervous system and the heart (for unknown reasons).
    The sensory neurons affecting proprioception are involved early and severely so ataxia is an early feature of the disease.
    Symptoms
    Friedreich's ataxia is a progressive neurodegenerative disorder, normally with start before 20 years of age.
    Signs and symptoms are:
    1. Progressive ataxia,
    2. Ascending weakness and
    3. Ascending loss of vibration and joint position senses,
    4. Pes cavus,
    5. Scoliosis,
    6. Cardiomyopathy, and
    7. Cardiac arrhythmias
    Symptoms most often begin before puberty.
    Symptoms may include:
    1. Abnormal speech
    2. Changes in vision, particularly color vision
    3. Decrease in ability to feel vibrations in lower limbs
    4. Foot problems, such as hammer toe and high arches
    5. Hearing loss, this occurs in about 10% of people
    6. Jerky eye movements
    7. Loss of coordination and balance, which leads to frequent falls
    8. Muscle weakness
    9. No reflexes in the legs
    10. Unsteady gait and uncoordinated movements (ataxia), which gets worse with time
    Muscle disorders result in changes in the spine.
    This may lead to scoliosis or kyphoscoliosis.
    Heart disease most often forms and may result in heart failure.
    Diagnostic investigations
    1. Nerve conduction studies show motor velocities >40 ms-1 in arms and absent sensory action potentials.
    2. Genetic analysis.
    3. ECG - there may be ventricular hypertrophy and T-wave inversion.
    4. Vitamin E deficiency is excluded.
    Further investigations
    1. Blood tests: FBC, U&E and glucose
    2. Echocardiography may indicate ventricular hypertrophy, septal hypertrophy and hyper-trophic cardiomyopathy.
    3. MRI scan of the brain and spinal cord
    Treatment
    Friedreich ataxia is a disease with multi-system participation.
    Annual reviews should have evaluation of:
    1. Neurology,
    2. Cardiac function,
    3. Musculoskeletal disorders,
    4. A comprehensive systems review and
    5. Blood tests (hematology and monitoring for diabetes).
    Supportive treatment
    1. Physiotherapy.
    2. Speech and language therapy.
    3. Occupational therapy.
    System Treatments:
    1. Treatment of cardiac failure and arrhythmias is using standard treatments.
    2. Orthopedic surgery if there are problematic symptoms from scoliosis, pes cavus or equinovarus deformity of feet.
    3. Foot deformities may also be assisted by botulinum toxin or splints.
    4. Passive exercises and warming are required for peripheral cyanosis and cold feet.
    5. Diabetes will normally require insulin.
    6. Sphincter dysfunction symptoms (e.g., urgency)
    7. Urodynamic assessment and treatments
    8. Sexual dysfunction may need symptomatic treatment.
    9. Counseling or antidepressants for depression
    Treatment for Friedreich ataxia is:
    1. Counseling
    2. Speech therapy
    3. Physical therapy
    4. Walking aids or wheelchairs
    5. Idebenone and interferon-gamma medical treatment

    TABLE OF CONTENT
    Introduction

    LanguageEnglish
    PublisherKenneth Kee
    Release dateAug 3, 2017
    ISBN9781370447299
    Friedreich Ataxia, A Simple Guide To The Condition, Diagnosis, Treatment And Related Conditions
    Author

    Kenneth Kee

    Medical doctor since 1972.Started Kee Clinic in 1974 at 15 Holland Dr #03-102, relocated to 36 Holland Dr #01-10 in 2009.Did my M.Sc (Health Management ) in 1991 and Ph.D (Healthcare Administration) in 1993.Dr Kenneth Kee is still working as a family doctor at the age of 74However he has reduced his consultation hours to 3 hours in the morning and 2 hours inthe afternoon.He first started writing free blogs on medical disorders seen in the clinic in 2007 on http://kennethkee.blogspot.com.His purpose in writing these simple guides was for the health education of his patients which is also his dissertation for his Ph.D (Healthcare Administration). He then wrote an autobiography account of his journey as a medical student to family doctor on his other blog http://afamilydoctorstale.blogspot.comThis autobiography account “A Family Doctor’s Tale” was combined with his early “A Simple Guide to Medical Disorders” into a new Wordpress Blog “A Family Doctor’s Tale” on http://ken-med.com.From which many free articles from the blog was taken and put together into 1000 eBooks.He apologized for typos and spelling mistakes in his earlier books.He will endeavor to improve the writing in futures.Some people have complained that the simple guides are too simple.For their information they are made simple in order to educate the patients.The later books go into more details of medical disorders.He has published 1000 eBooks on various subjects on health, 1 autobiography of his medical journey, another on the autobiography of a Cancer survivor, 2 children stories and one how to study for his nephew and grand-daughter.The purpose of these simple guides is to educate patient on health disorders and not meant as textbooks.He does not do any night duty since 2000 ever since Dr Tan had his second stroke.His clinic is now relocated to the Buona Vista Community Centre.The 2 units of his original clinic are being demolished to make way for a new Shopping Mall.He is now doing some blogging and internet surfing (bulletin boards since the 1980's) startingwith the Apple computer and going to PC.The entire PC is upgraded by himself from XT to the present Pentium duo core.The present Intel i7 CPU is out of reach at the moment because the CPU is still expensive.He is also into DIY changing his own toilet cistern and other electric appliance.His hunger for knowledge has not abated and he is a lifelong learner.The children have all grown up and there are 2 grandchildren who are even more technically advanced than the grandfather where mobile phones are concerned.This book is taken from some of the many articles in his blog (now with 740 posts) A Family Doctor’s Tale.Dr Kee is the author of:"A Family Doctor's Tale""Life Lessons Learned From The Study And Practice Of Medicine""Case Notes From A Family Doctor"

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      Book preview

      Friedreich Ataxia, A Simple Guide To The Condition, Diagnosis, Treatment And Related Conditions - Kenneth Kee

      Friedreich Ataxia,

      A

      Simple

      Guide

      To

      The Condition,

      Diagnosis,

      Treatment

      And

      Related Conditions

      By

      Dr Kenneth Kee

      M.B.,B.S. (Singapore)

      Ph.D (Healthcare Administration)

      Copyright Kenneth Kee 2017 Smashwords Edition

      Published by Kenneth Kee at Smashwords.com

      Dedication

      This book is dedicated

      To my wife Dorothy

      And my children

      Carolyn, Grace

      And Kelvin

      This book describes Friedreich Ataxia, Diagnosis and Treatment and Related Diseases which is seen in some of my patients in my Family Clinic.

      (What The patient Need to Treat Friedreich Ataxia)

      This eBook is licensed for your personal enjoyment only. This eBook may not be re-sold or given away to other people. If the patient would like to share this book with another person, please purchase an additional copy for each reader.

      If you’re reading this book and did not purchase it, or it was not purchased for your use only, then please return to Smashwords.com and purchase your own copy.

      Thank the patient for respecting the hard work of this author.

      Introduction

      I have been writing medical articles for my blog http://kennethkee.blogspot.com (A Simple Guide to Medical Disorder) for the benefit of my patients since 2007.

      My purpose in writing these simple guides was for the health education of my patients.

      Health Education was also my dissertation for my Ph.D (Healthcare Administration).

      I then wrote an autobiolographical account of his journey as a medical student to family doctor on his other blog http://afamilydoctorstale.blogspot.com.

      This autobiolographical account A Family Doctor’s Tale was combined with my early A Simple Guide to Medical Disorders into a new Wordpress Blog A Family Doctor’s Tale on http://kenkee481.wordpress.com.

      From which many free articles from the blog was taken and put together into 800 amazon kindle books and 200 into Smashwords.com eBooks.

      Some people have complained that the simple guides are too simple.

      For their information they are made simple in order to educate the patients.

      The later books go into more details of medical disorders.

      The first chapter is always from my earlier blogs which unfortunately tends to have typos and spelling mistakes.

      Since 2013, I have tried to improve my spelling and writing.

      As I tried to bring the patient the latest information about a disorder or illness by reading the latest journals both online and offline, I find that I am learning more and improving on my own medical knowledge in diagnosis and treatment for my patients.

      Just by writing all these simple guides I find that I have learned a lot from your reviews (good or bad), criticism and advice.

      I am sorry for the repetitions in these simple guides as the second chapters onwards have new information as compared to my first chapter taken from my blog.

      I also find repetition definitely help me and maybe some readers to remember the facts in the books more easily.

      I apologize if these repetitions are irritating to some readers.

      Chapter 1

      Friedreich ataxia

      What is Friedreich ataxia?

      Friedreich ataxia is a rare disease and the most frequent inherited ataxia.

      It is a degenerative disorder that mainly affects the nervous system, muscles and the heart.

      It is often linked with cardiomyopathy or diabetes

      There is progressive ataxia (in-coordination of muscles), dysarthria, reduced proprioception, vibration sense and muscle weakness.

      The inheritance is autosomal recessive.

      Incidence

      The prevalence is about 1.8 per 100,000.

      Friedreich ataxia is present in people from Europe, the Middle East, North Africa and India.

      It is absent in people from East Asia (China and Japan) and in American Indians.

      What are the causes of Friedreich ataxia?

      Causes

      The gene disorder is a mutation of the frataxin gene (FXN) on chromosome 9.

      Many patients (98%) have a GAA (acid alpha-glucosidase) repeat expansion of the frataxin gene with the size of the expansion correlating with the severity of the disease

      More infrequently there is a point mutation in one gene.

      The mutation leads to reduced synthesis of frataxin, a mitochondrial protein.

      The function of frataxin protein is not known, but it appears to be involved in cellular iron homeostasis.

      Its poor function leads to mitochondrial dysfunction and oxidative injury to cells

      The cellular injury mainly involves the nervous system and the heart (for unknown reasons).

      The sensory neurons affecting proprioception are involved early and severely so ataxia is an early feature of the disease.

      Alterations in this gene induce the body to make too much of a part of DNA called trinucleotide repeat (GAA).

      The body normally has about 8 to 30 copies of GAA.

      Patients with Friedreich ataxia have about 1,000 copies.

      The more copies of GAA a person has, the earlier in life the disease begins and the faster it gets worse.

      Friedreich ataxia is an autosomal recessive genetic disorder.

      This means the patient must get a copy of the defective gene from both the mother and father.

      What are the symptoms of Friedreich ataxia?

      Symptoms

      Friedreich's ataxia is a progressive neurodegenerative disorder, normally with start before 20 years of age.

      Signs and symptoms are:

      1. Progressive ataxia,

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