The Basics: Charcot-Marie-Tooth Awareness Month, Part 1

Everyone who's too scared to ask why I'm in a wheelchair, this is your lucky month. ;)

http://www.cmtausa.org/

I was born with a disease most commonly known as Charcot-Marie-Tooth. Other more descriptive names for it, for you scientific folks, are Hereditary Motor and Sensory Neuropathy and Peroneal Muscular Atrophy.

Most of you have probably never heard of CMT before, but it's one of the most common diseases you've never heard of, affecting an estimated 2.8 million people worldwide, about 1 in every 2,500 people.

Charcot-Marie-Tooth is an inherited disorder, meaning it is not contagious, nor can it be developed late in life. Everyone who has Charcot-Marie-Tooth was born with the disease, although many people don't know it until they're in their late teens to early 30's. The vast majority of people who have CMT inherit it from a parent who either has the disease or is a carrier for the gene that causes it. In rare cases, a child is born with a spontaneous mutation of the CMT gene, despite having no family history of the disorder. These individuals are then able to pass the disorder on to their own children.

Symptoms of Charcot-Marie-Tooth vary greatly based on the "type" of the disorder (the gene mutation) and even between family members who have it, but some of the most common early signs are

• Foot weakness and numbness
• Foot deformities such as high arches and claw toes
• Muscle loss in the lower legs
• Balance problems
• "Foot drop"
• Reduced reflexes 

Charcot-Marie-Tooth is a progressive disease, so many people are born with no symptoms at all and develop them later. My parents knew I had it by the time I was a toddler, but I have relatives who haven't experienced any symptoms until their 20s or 30s. 

There are currently no treatments to slow down or reverse the progression of the disease. Symptoms can be managed using leg braces, surgeries, physical therapy, and pain medication, but the disorder will continue to progress. There is some research being done into treatments for CMT, and prospective parents who have the disease are able to obtain genetic counseling to learn about their chances of passing it on to their children.

Do you have questions about CMT? I want to answer them.