Rare Disease Awareness: Charcot–Marie–Tooth Disease

February 29th is Rare Disease Day. In the hopes of raising awareness I pledged to write one post each day of the month of February about a different rare disease. This is the fifth installment.

Day 5 – Charcot–Marie–Tooth Disease

What is it? Charcot–Marie–Tooth Disease (CMT) though rare, is still one of the most commonly inherited neurological disorders. It’s estimated to effect about 125,000 people in the U.S. and 2.6 million people worldwide. CMT is an inherited disorder passed down through families and capable of taking different forms from person to person. Characteristically, as the disease progresses, loss of touch sensation and muscle tissue in ankles, feet and legs will become continuously worse.

What does it look like? Charcot–Marie–Tooth disease can effect individuals of both sexes and all races and ethnic classes. Most commonly patients with CMT present with high arched feet, claw toe (curled toes) and foot drop earlier in the course of the disease. Foot drop is when a sufferer begins to drag their toes along the ground when walking or avoids this by bending their knees to lift the foot higher during each step.  Foot drop occurs due to muscle weakness or damage to the peroneal nerve. Muscle atrophy (wasting) of the legs can lead to what is known as “stork leg” or an “inverted bottle” appearance.

What effects does it have on the body? As CMT progresses it has the potential to effect vision, hearing and breathing as well as the neck and shoulder muscles. It’s not uncommon for a patient to present with scoliosis and/or malformed hip sockets. Not only this but chewing, swallowing, speaking and gastrointestinal problems can also be present. Neuropathic pain is often an effect of CMT, it’s severity varying from person to person.

How is it diagnosed? There are a few different ways that CMT can be diagnosed. Examination of symptoms, electromyography (nerve reflex test), biopsy of the nerve, and DNA testing can all possibly be used.

Where can I learn more? To learn more check out the National CMT Resource Center and the Hereditary Neuropathy Foundation as well as the Charcot–Marie–Tooth Association‘s  or the National Institute of Neurological Disorders and Stroke‘s websites.

6 thoughts on “Rare Disease Awareness: Charcot–Marie–Tooth Disease

  1. Pingback: 1 Million for Rare Disease Day « Connective Tissue Disorders: My Journey

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