Sunday, July 28, 2013

Charcot Marie Tooth Disease

For my blogging assignment I decided to add on to our topic of diseases.  I chose a different disease, one that has not yet been researched for our class.  Though this disease is new to the class it is not new to me.  The disease does not affect me, but one that I love very dearly and consider to be my best friend.  I have always known that the individual had the disease, but never knew the full extent of its effects.  This five minute YouTube video briefly explains the disease and the emotional toll that it can take on a family.
Video on effects of CMT
                Charcot-Marie-Tooth Disease (CMT) is a disease that affects the peripheral neuropathy.  This more simply put means that the disease attacks the nerves throughout the body that control sensitivity and the electrical signals in the myelin sheath (for most forms of the disease).  The peripheral nerves throughout the body connect the brain and spine to extremities of the body.  These nerves alert the body of sensations such as touch, pain, heat, and sound.  Charcot-Marie-Tooth Disease is due to chromosome 17, gene PMP22 (for CMT1), being damaged and the disease causes atrophy to the muscles in the feet, legs, and hands.  Unlike any other muscular dystrophy disease CMT affects the nerves and not the muscles directly.

  • ·         High Arches in feet
  • ·         Drop foot
  • ·         Hammer Toes
  • ·         Weak ankles
  • ·         Spasms
  • ·         Cramping
  • ·         Sensitivity in the feet and hands
  • ·         Clumsiness
  • ·         Overall weakness in the legs

After knowing a person with this disease and knowing that they have the disease it is easy to recognize that they have it.  When you know what to look for it is very easy to see the disease present throughout their body.

CMT is the most commonly inherited neuropathy and is present in an estimated 2.6 million people.  Therefore, there are a good amount of treatments to individuals with the disease.   The main treatment after the disease is diagnosed is for the individual to see the podiatrist for treatment for their ankles and feet.  After this treatment the patient, depending on severity, is directed to an occupational therapist for exercises to increase strength within the muscles and how to stretch them to avoid cramping and spasms.  It is highly recommended for those with the disease to keep up muscle use as much as they can.  The more that they use their muscles and maintain movement, the more their nerves and muscles are used keeping them from deteriorating. 
CMT is inherited in the autosomal dominant manner.  This means that in order to inherit the disease you only have to receive one allele to have the disease.  Since it is autosomal that means that it doesn’t matter if you are a male or a female you are at risk of inheriting the disease.  There is more than one type of CMT that can be inherited and each type varies in severity, the symptoms that are prevalent, and how the disease is caused.  In total there are approximately 18 different variations of the disease. 
Is there a cure?
Currently there is no cure CMT, though the CMT Association (CMTA) is an association that actively funds research for the cure for CMT.  The best way that the disease is treated/cured is through trips to the doctor, surgeries, and therapy.  I foresee the best cure to come will be stopping it from being inherited through manipulation of the allele that causes the disease from being passed down to the offspring.



  1. The person you know that has CMT, does he/she have other family members with the disease? I thought this was very interesting, I didn't even know that CMT existed. It is so sad knowing there is no cure for this disease. I hope that Bernadette makes a difference and gets the word out there. Her family's story was remarkable, and seeing how high their spirits were even though so many of their family members had been infected.

  2. Thank you for sharing your experience and describing this disease. It is one of the more common diseases that is not generally known about by the public.

    A mutation in one of genes I study can cause this disease, although my research is not related to CMT.