Charcot Marie Tooth Disease, A Simple Guide To The Condition, Diagnosis, Treatment And Related Conditions
Charcot Marie Tooth Disease, A Simple Guide To The Condition, Diagnosis, Treatment And Related Conditions
Overview
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
Product Details
| BN ID: | 2940154130438 |
|---|---|
| Publisher: | Kenneth Kee |
| Publication date: | 04/18/2017 |
| Sold by: | Smashwords |
| Format: | eBook |
| File size: | 129 KB |
About the Author
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 65. However he has reduced his consultation hours to 3 hours in the morning and 2 hours in the afternoon. He first started writing free blogs on medical conditions 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 autobiolographical account of his journey as a medical student to family doctor on his other blog afamilydoctorstale.blogspot.com. This autobiolographical account “A Family Doctor’s Tale” was combined with his early “A Simple Guide to Medical Conditions” 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 550 amazon kindle books and some into Smashwords.com 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 conditions. The first chapter of all my ebooks is always taken from my blog A Simple Guide to Medical Conditions which was started in 2007 as a simple educational help to my patients on my first blog http://kennethkee.blogspot.com. The medical condition was described simply and direct to the point. Because the simple guide as taken from the blog was described as too simple, I have increased the other chapters to include more detailed description of the illness, symptoms, diagnosis and treatment. As a result there are the complaints by some readers of constant repetitions of the same contents but in detail and fairly up to date. He has published 550 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 conditions 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 Bouna 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) starting with the Apple computer and going to PC. All the 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"