After discussing Julianna’s choice last week, I was interested in the disease which she battled: Charcot-Marie-Tooth Disease.
I’ve seen that in some patients’ histories before and wrote it off as some random condition that I didn’t really need to pay attention to. It’s still named after the old dead people that discovered it, so it can’t be that important, right? Wrong. Here’s what you need to know.
Charcot-Marie-Tooth (CMT) disease is a neuromuscular hereditary condition with 4 subcategories depending on which specific gene is effected. It can be inherited either as a recessive trait, a dominate trait or as related to the X gene (gender chromosome). It is the most common heritable neuromuscular disease. The disease effects the axons or myelin sheaths (nerve connections and their insulation) of muscular nerves and sometimes sensory nerves. Most cases are mild, attacking first the longest nerves, so the ones to foot and/or hand muscles causing difficulty with fine motor activities in the hands like gripping writing utensils, buttoning buttons and possibility foot drop with a high steppage type gait (see below at 1:05). Depending on the severity, these symptoms usually begin in adolescence or early adulthood, but may not be noticed until late in life. It is a progressive disease so, the weakness and incoordination will slowly creep up the limbs. In severe cases like Julianna’s the respiratory muscles are effected, which can causes difficulty breathing and in Julianna’s case, death.
Diagnosis is made based on clinical observations of the above, familial history of the disease and tests which include: nerve conduction studies (to see how fast a signal passes along a nerve) and electromyogram (to see how the signals work once they reach the muscle cells).
Here’s a little video describing the gait abnormalities with weakness or paralysis (complete loss of control of muscles) in the foot/ankle.
So store that away in the back of your mind and keep in there just in case you need it to help explain why your patients do what they do.
Here’s a link to Charcot-Marie-Tooth Association for more information.