September is Charcot- Marie-Tooth Awareness Month. Charcot-Marie-Tooth (CMT) is truly a serious disease, though it is seldom life-threatening.
People can develop symptoms from birth to their fifties, some even into their seventies. Even within the same family, age of onset and severity of symptoms often vary significantly.
Typical symptoms include sensory neuropathy, severely high arches, hammertoes, unsteady gait, tiredness and the outer muscles of the legs and arms wasting.
Most people will remain walking throughout their lives, even if with some difficulty and pain. Many will have worsening of symptoms beyond what is considered usual. This can include clawing of the hands and severe, generalized, pain. Problems with vision can also occur.
Sensory neuropathy usually occurs in the lower legs and feet and sometimes in the hands. Infrequently, other parts of the body can be affected. So, yes, this is a serious disease.
It occurs in one in 2,500 people in North America. While it is hardly a common disorder, it is more common than many, sometimes being referred to as “the most common disease you have never heard of.”
There are also many variants of the disease. When I was diagnosed at age 12 (more than a few years ago), CMT was simply that, CMT. Today, using genetic testing, many variants have been discovered. Not all forms have been determined. I do not have a form that is noted by genetic testing.
So where does one go for help with such a disease? Besides medical staff (neurologists, orthopedists, rehabilitation specialists, etc.) there are three primary sources of help for people with Charcot-Marie-Tooth disease.
The Muscular Dystrophy Association has become more heavily focused on research. It still runs summer camps for children with muscular dystrophy (MD). It also runs support groups around MD and clinics for those with MD.
These clinics operate out of some of the best medical facilities in the country. Indiana University School of Medicine’s Neurology Department hosts a clinic.
MDA also provides $500 per year for repairs to durable medical equipment.
An interesting note is that CMT is not a muscular dystrophy. However, before that was recognized, the MDA included CMT under its covered diseases. And it has chosen to continue to do so. Thank you, MDA.
The Hereditary Neuropathy Foundation focuses its efforts on raising funds for the treatment and possible cure of hereditary neuropathies. The foundation provides assistance in organizing those with CMT to join medical studies and checking out possible eventual treatments. It also provides educational materials to help people understand Charcot-Marie-Tooth disease. It also operates a web presence called “Team Inspire” that provides considerable information about CMT.
The Charcot-Marie-Tooth Association (CMTA) raises money for research, sponsors support groups and publicizes information about CMT. I have been attending a CMTA Support Group for about a year in Indianapolis.
The association has also funded several “centers of excellence” around the country. These centers provide comprehensive evaluation of those thought to have CMT. They can also develop a treatment plan that will help with the symptoms of the illness.
No treatment exists for the disorder itself. This organization is behind the movement to declare September “CMT Awareness Month.”
MDA has the broadest focus, in that it supports efforts with regard to Muscular Dystrophy (numerous disorders), Charcot-Marie-Tooth and Amyotrophic Lateral Sclerosis (Lou Gehrig’s Disease). I believe it is also the longest-existing organization to assist with CMT. You might have seen its long-running ad in the Daily Reporter.
Currently, the Hereditary Neuropathy Foundation’s focus is at a national level. The CMTA is a growing organization that began with a national focus and is now moving toward organizing at a local level with support groups and local events. On Sept. 26, the Indianapolis Chapter is playing host to Walk and Roll 4 CMT to raise funds for research. This is part of the national effort in September.
