According to a story from Charcot-Marie-Tooth Disease News, Charcot-Marie-Tooth disease is actually somewhat common in the US compared to other rare diseases. In fact, it is estimated that around 150,000 people in the country have it. With that being said, it still isn’t well known outside of the Charcot-Marie-Tooth community. Estela Lugo, who is the medical outreach manager at the Hereditary Neuropathy Foundation (HNF), is working towards changing that.
Charcot-Marie-Tooth Disease (CMT)
Charcot-Marie-Tooth disease is a hereditary disorder of the peripheral nervous system. It is most characterized by a progressive loss of touch sensation and muscle tissue in several different parts of the body. The cause of this disease is usually linked to a genetic mutation, but the mutation involved varies depending on the variant of Charcot-Marie-Tooth disease. There are multiple types of Charcot-Marie-Tooth disease, with all types aside from type 2 having a demyelinization effect. Type 2 causes damage to the neuronal axon instead. Symptoms include foot drop, muscle wasting (typically in the arms, legs, and hands), painful muscle spasms, loss of sensation in the limbs, scoliosis, trouble speaking, chewing, swallowing, and tremors. Treatment typically includes therapy and surgery in order to maintain function. There is no cure. The disease can occur early in life or as late as the 30s and 40s. To learn more about Charcot-Marie-Tooth disease, click here.
Why this lack of awareness? Estela starts by making an interesting point: it has a strange name.
“Because the name has no association with any actual symptoms, it’s hard to connect,” she says.
It’s true, especially because the word “tooth” is in there. On first glance someone may assume that the illness is some sort of dental problem. In fact, the name of the disease comes from the three scientists who jointly described the illness for the first time in 1886. There names were Jean Martin Charcot, Pierre Marie, and Howard Henry Tooth.
Estela, 39, is a Charcot-Marie-Tooth disease patient herself, so she understands that challenges that patients can face firsthand. She had to wear a brace and underwent surgery on one of her feet because of the illness as child, but she wasn’t actually diagnosed until her 20s. However, she is fortunate because she doesn’t experience chronic pain and doesn’t take any prescription medication for it. Nevertheless, she says the disease causes falls around 65 times per year for her.
The HNF is meant to be a patient focused organization and started the first ever Charcot-Marie-Tooth disease patient registry in 2013. To learn more about this organization’s activities, click here.