DESCRIPTION
The nerves of the body are like electrical wires. The wire itself is called the axon. The outside coating is called myelin. Electricity travels down the wires from the brain to the muscle. It communicates sensation back to the brain.
Some nerves allow you to feel (sensory nerves). Others allow you to move (motor nerves).
The set of nerves that travel from the spinal column to the muscles is called the peripheral nervous system. In the most common type of CMT, the myelin of the motor and sensory nerves breaks down. Other types of CMT affect the axon of the nerves. This means the brain and muscle cannot communicate well, affecting sensation and movement.
CAUSES
CMT disease is an inherited disorder. It is inherited either from the child’s mother or father. There are several ways to inherit the disease, depending on the type of CMT. The types of CMT include:
CMT1A
- CMT1A is the most common type of CMT.
- Symptoms usually occur during the first ten years of life.
- CMT1A is caused by variation in genes that affect the myelin coating around the nerve.
- CMT1A is inherited in an autosomal dominant manner. This means that if either parent has one gene variation, there is a 50% chance that their children will inherit the disease.
- The most severe form of CMT1A is called Roussy-Levy syndrome. Symptoms occur during infancy or early childhood.
CMT1B
CMTX1
- CMTX1 is the second most common form of CMT.
- CMTX1 is caused by variation in genes that affect the axon of the nerve.
- CMTX1 is inherited in an X-linked dominant manner.
- Humans have two sex chromosomes: the X and Y chromosomes. Females usually have two X chromosomes (XX). Males usually have one X and one Y chromosome (XY). The mutated gene in CMTX1 is located on the X chromosome.
- Because CMTX1 is dominant, it can be passed from the mother or father, and can affect people with either XX or XY chromosomes. This condition is more common when people have XY chromosomes.
- Symptoms are mild to moderate.
CMT2A
TREATMENT AND THERAPIES
Since there is no cure for CMT disease, therapies are aimed at symptomatic and supportive care. Some of these therapies include:
Non-steroidal anti-inflammatory drugs (NSAIDs).
Treatments for neuropathic pain.
Orthoses and walking aids.
Back bracing and/or surgery.
Resources
Charcot-Marie-Tooth Association
The vision of the Charcot-Marie-Tooth Association (CMTA) has always been “A World Without CMT” and they aim to accomplish this mission by accelerating research and empowering patients. CMTA is devoted to:
- Driving the development of new drugs to treat CMT
- Meeting the needs of patients with CMT
- Accelerating research for a cure
CMTA is the driving force behind CMT research and CMT community programs. They have 36 CMTA Centers of Excellence in the US and four overseas. The CMTA community includes patients, families, and supportive friends—along with hundreds of experts in neurology, genetics, orthopedic surgery, physiatry, physical therapy and podiatry—all committed to the CMTA vision. CMTA offers a place to get connected to other youth with CMT and to learn all about their programs on the CMTA Youth Program page. The Charcot-Marie-Tooth Association also hosts a private Facebook group with over 17,000 members.
The European Charcot-Marie-Tooth Federation
The European Charcot-Marie-Tooth Federation (ECMTF) is a non-profit organization registered in Belgium, formed by European national associations supporting people affected by Charcot-Marie-Tooth or similar diseases. They represent about 1/3 of people suffering from Charcot-Marie-Tooth disease in Europe, which is about 100,000 patients. ECMTF’s main objectives are to support research and clinical trials on CMT and to raise awareness on this rare and little-known disease. Collaboration and communication with other CMT organizations and charities allow ECMTF to share expertise and best practice for supporting the CMT community.
Muscular Dystrophy Association
Families are at the heart of Muscular Dystrophy Association’s mission. A caring and concerned group of families started MDA in 1950, and they continue to relentlessly pursue their promise to free families from the life-threatening effects of muscular dystrophy and muscle-debilitating diseases today. MDA focuses on over 43 neuromuscular diseases in children and adults, including Charcot-Marie-Tooth.
MDA empowers families with support by providing: A Resource List, Outside Organization Programs & Information, Summer Camp, Community Education, Community Events, and Young Adult Programs. MDA’s research program awards grants to the world’s best scientists investigating promising theories and therapies that may accelerate treatments and cures for families living with muscular dystrophy, ALS and related neuromuscular diseases.
Publications
JCN: What Your Pediatric Neurologist Wants You to Know: CMT
Podcast from SAGE Neuroscience and Neurology/Journal of Child Neurology (JCN). Dr. Geetanjali Rathore, Pediatric Neurologist, Associate Professor of Neurosciences and Clinical Director of the CMT clinic at the University of Nebraska discusses Charcot-Marie-Tooth disease.
JCN: What Your Pediatric Neurologist Wants You to Know
Podcast from SAGE Neuroscience and Neurology/Journal of Child Neurology (JCN). JCN’s Residents and Fellows Board Director, Dr. Alison Christy, interviews Dr. Farida Abid, Assistant Professor in Pediatric Neurology at Texas Children’s Hospital about Neuromuscular disease.
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