Charcot – Marie – Tooth disease By: Naomi Acklin

What is Charcot- Marie- tooth disease? Charcot- Marie- Tooth Disease or (CMT) is a group of heredity disorders that damage the nerves in arms and legs. It was named after the three physicians who identified it Jean- Martin Charcot, Pierre Marie and Howard Henry Tooth.

Causes Both the X and Y chromosomes are affected. CMT damages the peripheral nerves, which is connected to the spinal cord with the rest of the body. CMT is both a dominant and recessive autosomal gene. Autosomal means the mutation occurs on a chromosome other than X and Y, therefore it affects males and females equally. Autosomal recessive is when two copies of the gene is required for the entire disease. One copy is inherited by each parent.

Causes Pt.2 Autosomal dominant is when one copy of the defected gene can cause the disease. CMT is also X- linked This means the genetic Defect/Mutation is located on the X- Chromosome which makes it more severe in men. CMT is non-disjunction which means the chromosomes don’t separate correctly during meiosis A healthy gene is different from an afflicted gene because depending on whether it is autosomal dominant or recessive it may or may not affect the person.

Facts about disease CMT occurs in about 1 in 2,500 people in the US we have about 175,000 to 200,000 cases per year. world wide there are about 2.8 million people that are affected. It is known to be for severe in men than women and it is found of all races and ethnic groups The age bracket for this disease ranges widely from 14 to 60 years of age It is usually seen during adolescence or early adulthood but can develop in midlife too.

Pins and needles and reduced sensation of touch symptoms Muscular Abnormal walking, flaccid muscles, Lack of coordination, muscle weakness, rhythmic muscle contractions, or loss of muscle Foot Hammer toe, high foot arches, constantly walking on tip toes, or difficulty raising foot Sensory Pins and needles and reduced sensation of touch

Testing and diagnosing CMT has to be diagnosed some ways it is found is through lab test and/or imaging The neurologist would also look for key symptoms such as lower leg weaknesses and foot deformities. If one of these occur the neurologist will usually preform a physical exam to search for any more clues.

treating There is no cure for CMT but there is treatment, Physical medication, rehabilitation, physical therapy and occupational therapy are some types of treatment. Other things like a braces and tape may help fix the deformity. CMT cant kill you but in some rare cases it can be life threatening, it has the ability to become a life long problem and cause severe weakness and other problems but all together it doesn’t affect you life expectancy.

It is the most common inherited Neurological Disorder Fun Facts It is the most common inherited Neurological Disorder Name came from last names of the physicians who identified it.

Bibliography www.mayoclinic.org www.mda.org www.brainfact.org Ghr.nlm.nih.gov www.ncbi.nlm.nih.gov