Charcot Marie Tooth Disease, A Simple Guide To The Condition, Diagnosis, Treatment And Related Conditions

By Kenneth Kee

Charcot-Marie-Tooth disease (CMT) is one of the most frequent inherited neurological disorders, involving about 1 in 2,500 people in the USA.
CMT, also termed hereditary motor and sensory neuropathy (HMSN) or peroneal muscular atrophy, consists of a group of disorders that affect peripheral nerves.
Disorders that involve the peripheral nerves are called peripheral neuropathies.

Charcot-Marie-Tooth (CMT) disease is a heterogeneous cluster of inherited peripheral neuropathies in which the neuropathy is the main effect of the disorder
The normal CMT phenotype affects distal limb muscle wasting and sensory loss, with proximal progression over time.
The disease course is different, indicating both genotypic and phenotypic heterogeneity.
Autosomal dominant inheritance is the most frequent mode of inheritance but autosomal recessive, and CMT X-linked (CMTX) forms have also been recognized.
Most autosomal dominant forms are of the CMT type 1 (CMT1) subgroup.
CMT1A is the most frequent type.
CMTX1 (X-linked, dominant) is the second most frequent type.
Online Mendelian Inheritance in Man (OMIM) gives detailed gene locus and abnormality data:
There are many forms of CMT disease, such as CMT1, CMT2, CMT3, CMT4, and CMTX.
The neuropathy of CMT involves both motor and sensory nerves.
Motor nerves produce muscles to contract and manage voluntary muscle activity such as speaking, walking, breathing, and swallowing.
A normal sign is weakness of the foot and lower leg muscles which may result in foot drop and a high-stepped gait with frequent tripping or falls.
Foot deformities, such as high arches and hammertoes (a disorder in which the middle joint of a toe bends upwards) are also normal signs due to weakness of the small muscles in the feet.
Also, the lower legs may have an inverted champagne bottle appearance because of the loss of muscle bulk.
Afterward in the disease, weakness and muscle atrophy may occur in the hands, resulting in problem with performing fine motor skills (the coordination of small movements typically in the fingers, hands, wrists, feet, and tongue).
The onset of symptoms is most often in adolescence or early adulthood, but some patients develop symptoms in mid-adulthood.
Even though in rare cases, patients may have respiratory muscle weakness, CMT is not considered a fatal disorder and people with most forms of CMT have a normal life expectancy.
In the neurological examination a doctor will check for presence of muscle weakness in the patient's arms, legs, hands and feet, reduced muscle bulk, decreased tendon reflexes, and sensory loss.
Doctors check for presence of foot deformities, such as high arches, hammertoes, inverted heel, or flat feet.
A specific feature that may be found in people with CMT1 is nerve enlargement that may be palpated through the skin.
These enlarged nerves, termed hyper-trophic nerves, are caused by abnormally thickened myelin sheaths.
If CMT is suspected, the doctor may require electrodiagnostic tests.
This testing is made of two parts: nerve conduction studies and electromyography (EMG).
A nerve biopsy requires excising a small piece of peripheral nerve through an incision in the skin
Treatment:
Presently there are no effective treatments to reverse or decrease the underlying disease process.
Supportive treatment is given based on rehabilitation and surgical corrections of skeletal deformities.
Orthotic devices and Night splinting are extensively used.
Painkillers and anticonvulsants are useful treatments.
TABLE OF CONTENT
Introduction
Chapter 1 Charcot Marie Tooth Disease
Chapter 2 Causes
Chapter 3 Symptoms
Chapter 4 Diagnosis
Chapter 5 Treatment
Chapter 6 Prognosis
Chapter 7 Neuralgia
Chapter 8 Peripheral Neuropathy
Epilogue

• Language: English
• Publisher: Kenneth Kee
• Release date: Apr 18, 2017
• ISBN: 9781370767625

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"

Book preview

Charcot Marie

Tooth Disease,

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 Charcot Marie Tooth Disease, Diagnosis and Treatment and Related Diseases which is seen in some of my patients in my Family Clinic.

(What You Need to know about Charcot Marie Tooth Disease)

This eBook is licensed for the personal enjoyment only. This eBook may not be re-sold or given away to other people. If you 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 you 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 Condition) 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 Conditions 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 conditions.

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 you the latest information about a condition 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

Charcot Marie Tooth Disease

What is Charcot-Marie-Tooth disease?

Charcot-Marie-Tooth disease (CMT) is one of the most frequent inherited neurological disorders, involving about 1 in 2,500 people in the USA.

The disease is named after Jean-Martin Charcot and Pierre Marie in Paris, France, and Howard Henry Tooth in Cambridge, England.

CMT, also termed hereditary motor and sensory neuropathy (HMSN) or peroneal muscular atrophy, consists of a group of disorders that affect peripheral nerves.

The peripheral nerves are all outside the brain and spinal cord and provide nerve supply to the muscles and sensory organs in the limbs.

Disorders that involve the peripheral nerves are called peripheral neuropathies.

Charcot-Marie-Tooth (CMT) disease is a heterogeneous cluster of inherited peripheral neuropathies in which the neuropathy is the main effect of the disorder

The normal CMT phenotype affects distal limb muscle wasting and sensory loss, with proximal progression over time.

The disease course is different, indicating both genotypic and phenotypic heterogeneity.

Incidence

It is the most frequent inherited neuromuscular disorder involving 1 in 2,500 people

It has no preference for a definite race or sex.

Pathogenesis

Autosomal dominant inheritance is the most frequent mode of inheritance but autosomal recessive, and CMT X-linked (CMTX) forms have also been recognized.

Mutations may also occur by themselves so that there may be no previous family history of the disease.

Most autosomal dominant forms are of the CMT type 1 (CMT1)