All the information below is from the Charcot-Marie-Tooth Association Website. I am compiling a short explanation of the disorder that is hopefully easy to understand. For more detailed explanations, please visit the CMT Association's website.
Charcot-Marie-Tooth or CMT is the most commonly inherited peripheral neuropathy. It is a disorder in which there is a defect in the nerves that control the muscles. Patients with CMT slowly lose normal use of their arms and legs and muscles weaken because affected nerves do not stimulate the muscles and tell them to operate properly.
Symptoms of CMT
*Some patients may not experience all of these symptoms, and the severity of symptoms varies. I have noted which symptoms Brody has.
- A high arched foot is sometimes the first sign of this disorder.
- The progressive muscle wasting of CMT leads to problems walking, running and balance. Ankle weakness is common and many patients develop foot drop. To avoid tripping, patients with foot drop raise their knees unusually high when walking. Some patients also have muscle weakness in their upper legs. **These are Brody's main symptoms and what clued us in that something was wrong. Read more about this on Brody's Story page.**
- Later in life, hand function can become affected.
- Because it is a nerve disorder, tingling and burning sensations in the hands and feet are common.
Types of CMT
There are numerous types of CMT, all determined by which gene is defective. For a very detailed explanation, see this link. Basically, the type of CMT the patient has determines how progressive the disorder will be for that patient. Some patients end up in wheel chairs or require the use of a cane or walker while others may never progress to that point. Some progress to these points very quickly and others take longer.
Currently, we do not know what type of CMT Brody has. He DOES NOT have CMT1A, which is the most commonly inherited form of CMT. Part of our "CMT Journey" is appealing to our insurance company to pay for the genetic testing to determine what form Brody has.
Treatment
Unfortunately, there is no cure for CMT. The main treatment for CMT is to maintain what movement and strength the patient has left. Physical therapy is required to keep the muscles from atrophy and wasting. Many patients (including Brody) require the use of AFOs or leg braces and may require these for their entire life. Surgery may also be required for those who end up with foot or leg deformities as the disorder progresses.
