Fact Sheet

[Guest guest]

THE FOUNDATION

Fact Sheet

CHARCOT MARIE TOOTH DISEASE

CMT is an acronym for Charcot Marie Tooth Disease, the most common

inherited neuromuscular disorder affecting the peripheral nerves and

their surrounding insulation. CMT was named after three doctors who

simultaneously discovered it in late 19th century Europe, Jean-

Charcot, Pierre Marie (both in France) and Henry Tooth in London.

It has nothing to do with teeth.

Every 12 minutes a child somewhere in the world is born with CMT

disease, a disease of the peripheral nerves that result in muscle

atrophy. People with CMT slowly lose normal use of their limbs as the

peripheral nerves giving signals to the muscles degenerate. This creates

muscle atrophy. CMT is a slowly progressive neuromuscular degenerative

disease for which there is no cure yet.

Approximately 2 million people in the world are diagnosed with CMT

disease every year. Those in 3rd world countries receive little or no

care and are left to suffer. Many persons in the United States suffer

from lack of medical care and knowledge as well.

There are currently 24,000 people in the U.K. with CMT disease with

7,743,000 in Australia and 2,142 in Denmark.

The increase in CMT births since 1951 indicates CMT births are

increasing at twice the pace as fifty years ago.

In 2001, alone, the World saw an increase in CMT births of 19,142 to

30,628.

Utilizing World Population Estimate Census statistics, the current

incidence rate shows the following for the year:

1800 - about 308,000 persons with CMT disease

1850 - about 400,000 persons with CMT disease

1900 - about 508,000 persons with CMT disease

1950 - about 840,00 persons with CMT disease

2000 - about 2,000,000 persons with CMT disease

The number of people with CMT is rapidly expanding and people remain

undiagnosed or more often misdiagnosed.

There are two ways to stop the spread of CMT: for all people with CMT to

be identified AND not have children; or for research to find

regenerative treatments, disease arrestment or cures. DNA testing is

strongly urged because the genetic profiles for the various types of CMT

must be found first.

A fast growing, innovative, free, private, Global CMT Email Support

group boasts over 600 members in 3 years from 20 countries. In three

years group membership has increased by 600%!

The 20 Countries represented in the upbeat Email Support group

include CMT persons from the United States, Brazil, Germany, Canada,

Asia, Australia, New Zealand, England, Scotland, Ireland, Norway,

Sweden, Denmark, Belgium, France, Switzerland, Italy, Israel, the

Philippines and Turkey. Daily discussions and sharing how to live a

positive quality of life is the group focus. This group is free to all

with CMT, their families and interested members of the medical

community.

This 24/7 Email Support group also includes archives of discussions, a

monthly on-line newsletter, group polls for discussion topics, members

photos, scheduled CMT topic chats, hundreds of CMT links and helpful

information, research news, plus much, much more! To join, follow the

easy sign up steps at http://www./group/

Onset of the disease is anywhere from infancy to late adulthood. There

are 53 types of CMT and many of these types are extremely

debilitating. Several of these types can be detected by a routine DNA

blood test. Only one type can be tested in the pre-natal stage.

According to current genetic categorization methods, it is possible that

in the near future there will be an additional 1,378 subtypes

identified.

The many types of known CMT have different and sometimes very diverse

symptoms. Some common symptoms can include high, wide arched feet, or

extremely flat feet, weak ankles and legs, and hammer toes. Some types

of CMT show no symptoms at all.

Some CMT persons show normal calf muscles, while others show very thin

legs. In addition persons with CMT often have 'foot drop' or they might

'walk on their toes'.

Increased fatigue from ordinary tasks results when atrophied muscles

have to work twice as hard to do half the work. This is extremely

debilitating and frustrating for CMT sufferers, making simple chores

like cooking, doing laundry, house and yard work, very difficult. This

is especially hard for children at play with their peers as well. CMT

persons find they need frequent breaks and flexible hours in their

jobs/careers as well.

CMT affects all ethnicities and socio-economic classes of people

worldwide. Women, men and children are affected equally, although

depending on family lineage, members within the same families may have

even more diverse and uncommon symptoms. The severity of CMT can differ

even among the same families as well.

CMT is a frequently undiagnosed condition that affects a diagnosed

population of about 1 in 2,500 people in the United States each year. A

slow degeneration of nerves in the feet, legs, arms and hands happens,

with the lungs and heart possibly being affected at the more severe

levels. The phrenic nerve at this level thus affects breathing and

therefore CMT in some cases is now considered to possibly be life

threatening.

Typically, muscles are weakened due to the loss of stimulation by the

affected nerves and many persons with CMT experience a significant loss

in their sense of balance and sensation. The severity of CMT varies

dramatically here also, again, within the same family.

CMT is diagnosed by Board Certified Neurologists in a series of

neurological examinations, which may include a manual exam, reflex

testing, balance, EMG/NCV study, a possible muscle/nerve biopsy and

spinal fluid monitoring and more recently by DNA blood testing.

An interesting study from Yale University discovered that approximately

30-50% of persons afflicted with CMT also have a debilitating motor

tremor. CMT with this essential tremor is often nicknamed Roussey/Levy

CMT, as it was also named after the founding scientists. Life tasks such

as cooking, eating, bathing, typing, are dramatically affected with this

uncontrollable tremor.

Treatment for CMT can involve wearing simple in-shoe custom orthotics

inside the shoes, or the wearing of Ankle Foot Orthotics to support the

legs while walking. Some CMT affected persons require full leg braces,

motorized scooters or wheelchairs for mobility. Diet, a low-stress

environment, and a positive attitude can make life with CMT more

manageable.

Sometimes surgery can help correct foot and ankle problems. Medications

are also helpful for persons who experience tremors or the great amount

of pain from the affected nerves. Many CMT patients are told " there is

nothing we can do " , and they are forced to return home to " live with

it " .

The Foundation knows this is NOT true!

CMT does not affect the brain or intellectual capacity. CMT affected

persons often far exceed average intelligence. Adapting to an incurable,

chronic illness and a life of great uncertainty results in ingenious

achievement, heightened creativity and extreme giftedness in developing

a unique manner for task accomplishment with the smallest amount of

physical effort.

Another recent name for CMT is Hereditary Motor and Sensory Neuropathy

(HMSN). This name gives a more accurate description because it is

thought to be Hereditary and can affect both the ability to move and the

ability to feel. However, many with CMT have no family history of the

disease.

CMT can be hereditary in three ways, most persons have the autosomal

dominant pattern meaning it comes directly from parent to child. In this

form of inheritance there is a 50/50 chance that at each conception a

child will have CMT. Another way of inheritance is through the X

Chromosome. There is also 'spontaneous mutation' where there has never

been any sign of the disease in family history, but one or both parents

carry the gene recessively. Once thought 'rare', spontaneous mutations

are becoming more common.

Children with CMT often have special needs in physical education and

every attempt to adapt their needs must be met and included in their

IEP. Children also cannot stand in lines and wait, due to the

limitations of their weak feet and ankles. This causes children pain.

Adults who must wait in lines, such as at the grocery store, also

experience this. We recommend use of shopping scooters to save feet and

leg pain and make shopping more enjoyable.

A general sampling of professions/careers held by CMT persons includes

a medic, travel agent, screenwriter, lyricist, producer, landscaper,

realtor, surfer, lawyer, public relations agent, health care

administrator, minister, private investigator, systems analyst,

entrepreneur, medical transcriptionist, foundation executive,

journalist, web designer, teacher, nurse, doctor, writer, artist,

researcher, librarian, and homemaker. If you would like our entire

Career Suggestions List, you will find it listed under " Jobs/Careers " in

our bookmarks.

July 2001 was the Official Kick Off for the First ever ' for CMT

AWARENESS' Campaign with 40,000 beautiful, handmade violet ribbons worn

world wide in support and better recognition of this disease. These

Awareness Ribbons are still available throughout the year by contacting

the list Moderator.

Our " Fatigue Busters " and " Stress Busters tips " are now also linked into

our Bookmarks for easy (alphabetical) access.

The newest CMT Rehabilitation and Management Book written by a doctor

with CMT (and one of our members) can be ordered at

http://www.stradeservizi.it/cmt.htm Several detailed book reviews can

be found at this site as well. If you have CMT, you need this book and

so does your doctor!

PERSPECTIVES is our monthly Newsletter and focuses on

members interesting lives. It is automatically sent free of charge to

members at the end of each month.

for CMT Awareness continues to bring additional corporate

endorsement, with the most recent being ABC, Gulf Broadcasting, Fox 11,

Channel 3 in Palm Springs, Pegasus Internation Landscapes, GoodBooks

Accounting

and Signatures Stemware. Dr. Fuki M. Hisama is our newest medical

professional

to endorse our good work. Our Founders Board continue to act in an

Advisory capacity and offer their contacts and ideas as well.

Watch soon for our brand new website, refreshed, reframed and ready for

YOU! There is much work still to be done for and CMT Awareness!

Watch

what happens now! You won't be dissappointed!

Copyright 2002 .org Revised 01/10/2002