Note to readers: Marianne is out of the country, and she has invited MD To Be readers to submit guest posts while she is away. Enjoy!
By: Melinda Lang
September is National Charcot-Marie Tooth (CMT) Awareness Month. Whenever I answer the question of “What’s wrong with you?”- with I have Charcot-Marie-Tooth disease, the response is, usually: “Shark teeth. What? followed by: “What’s wrong with your teeth?”
CMT, a genetic peripheral neuropathy, leads to the loss of normal function of arms, legs hands & feet, due to nerve damage and muscle wasting. CMT affects approximately 1 out of 2,500 people or around 150,000 Americans, yet most people and many doctors are unfamiliar with it.
Hence the need for Awareness Month.
Although I developed symptoms at an early age, I did not discover “What was wrong with me” until age 47. As a child, I fell frequently, spraining my ankles and did not excel in gym class. My parents were informed that I had weak ankles. For my mild scoliosis, the choices were surgery, back brace or wait and see. Over the years the questions continued, “What happened to your leg? Did you hurt yourself skiing? No, I always walk this way.” After numerous doctors evaluations and x-rays, still no answers to the cause of my ankle pain and swelling, except for possible floating bone chips, with advice to wear high top sneakers. No one mentioned foot drop.
Years later, I discovered my foot drops, when starting my day getting out of bed and falling on my face after just a couple of steps. After 3 mornings of searching to find what I had tripped over, I finally realized it was my own feet. As my foot dropped, my toes and top of the foot caught on the carpet, but due to loss of sensation I could not feel this was happening. By this time, I had also progressed to profound weakness in my arms and legs. Without a hand railing, I needed to crawl up the stairs on my hands and knees. When gardening, I would crawl over to the fence and pull myself up with my arms.
These progressing symptoms prompted a visit to a neurologist, who ruled out MS, Lyme disease and spinal stenosis. After suggesting I may have a genetic peripheral neuropathy, I immediately went home and researched my symptoms. I called my doctor the next morning, asking to be tested for CMT1A. Unfortunately, the Athena Diagnostics genetic blood test confirmed the diagnosis. My neurologist reassured me CMT was not life threatening. However, he indicted that CMT is progressive and that there was no treatment.
Conversely, after 3 years of almost daily physical therapy, I found PT to be a very effective treatment. By strengthening muscles not affected by CMT, I regained my ability to safely climb stairs again, and to rise from a chair without my husband pulling me up by my belt loop. At this time, I also learned about the promising research ongoing with the Charcot-Marie-Tooth Association, together with the NIH in cooperation with scientists from other countries.
I wanted to let others with CMT know that there is a treatment and that there is hope. So, with help from the CMTA, I founded Upstate NY CMT, a support and action group, to share information and resources and to promote awareness of CMT. The group meets every other month at the East Greenbush library alternating between inviting guest speakers and sharing our personal stories.
For more information about Upstate NY CMT visit our facebook page : https://www.facebook.com/UpstateNYCMTsupportGroup#
More information about the symptoms, diagnosis, and treatment of CMT below
What is CMT?
weakness & muscle wasting in the extremities
loss of balance
high arches or flat feet
loss of some reflexes
loss of sensory nerve function
curvature of the spine
rarely difficulty breathing
family history and neurological exam- CMT is primarily hereditary with the most common forms of CMT inherited in an autosomal dominant pattern. However, spontaneous mutations resulting in “de novo” cases do occur.
- nerve conduction velocity test (NCV) – delayed responses signified demyelination (type 1) and reduced responses indicates axonopathy (type 2).
- electromyogram (EMG) to measure the electrical signals’ strength in the muscles of the arms or legs.
- genetic testing- currently, 22 types can be identified by DNA blood testing: 1A, 1B, 1C, 1D, 1E, 1F, 1X, 2A, 2B, 2E, 2F, 2I, 2J, 2K, 4A, 4C, 4E, 4F, 4J, HNPP, CHN, and DSN.
For more information visit: http://www.athenadiagnostics.com/content/test-catalog/
If all the diagnostic work-up is inconclusive or genetic testing comes back negative, a nerve biopsy may confirm the diagnosis.
- there is no cure or medication for CMT
- physical therapy
- occupational therapy
- braces, AFO’s
- orthopedic surgery
- pain medications
- Help End CMT and the CMTA (cmtnyus.wordpress.com)
- Collaboration May Help Uncover Treatments for Rare Neurologic Disease (cmtnyus.wordpress.com)