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Charcot-Marie-Tooth Disease
(Hereditary Motor and Sensory Neuropathies [HMSNs], Dejerine-Sottas Disease)

Definition:
Charcot-Marie-Tooth disease (CMT) is a group of genetic disorders that affects movement and sensation in the limbs. The disease progresses slowly and causes damage to the nerves that control muscles.

Causes:
CMT is caused by defects in specific genes (genetic mutations) usually inherited in an autosomal dominant pattern. This means that if one parent has CMT, each child has a 50% chance of inheriting the gene and the disease.

There are three types of CMT:

  • Type I – This type affects the coating of the nerve called the myelin sheath, causing nerve impulses to travel more slowly. It usually occurs in childhood or adolescence, and is the most common type of CMT.
  • Type II – This type affects the nerve fibers, called axons. Although the speed is normal, the size or amount of impulses is less than normal. This type of CMT is less common, and occurs after adolescence.
  • Type III – This is a more rare, severe form of CMT. It is also called Dejerine-Sottas disease. Symptoms may include:
    • Delayed ability to walk
    • Severe sensory problems
    • Hearing loss
Risk Factors:
A risk factor is something that increases your chances of getting a disease or condition. The primary risk factor for developing CMT is having family members with this disease.

Symptoms:
Usually, symptoms first appear in children and young adults. The first sign of CMT is often a high arched foot or difficulty walking. Other symptoms may include:
  • Hammer toes
  • Muscle cramping in legs and forearms
  • Flexed toes
  • Difficulty holding the foot up in a horizontal position
  • Frequent sprained ankles and ankle fractures
  • Problems with balance
  • Muscle weakness and atrophy in the lower extremities
  • Diminished ability to detect hot and cold, vibration, and position
  • Difficulty writing, fastening buttons and zippers, and manipulating small objects
  • Scoliosis
Diagnosis:
The doctor will ask about your symptoms and medical history, and perform a physical exam. Tests may include:
  • Nerve Conduction Study – A test that measures the speed and amplitude of nerve impulses in the extremities.
  • Electromyogram (EMG) – A test that records the electrical activity of muscle cells.
  • DNA Blood Test – This test can confirm certain types of CMT, even if there are no symptoms.
Treatment:
Although there is no cure for CMT, treatment may help to improve function, coordination, and mobility. Treatment is also essential to protect against injury due to muscle weakness and diminished sensation. Treatment may include:
  • Physical and occupational therapy
  • Moderate exercise
  • Lightweight lower leg braces
  • Shoe inserts to correct foot deformity
  • Vigilant podiatric care
  • Orthopedic surgery
Prevention:
There are no known ways to prevent CMT once a person is born. If you have CMT or risk factors for CMT, you may want to talk to a genetic counselor before deciding to have children.
 
Please be aware that this information is provided to supplement the care provided by your physician. It is neither intended nor implied to be a substitute for professional medical advice. CALL YOUR HEALTHCARE PROVIDER IMMEDIATELY IF YOU THINK YOU MAY HAVE A MEDICAL EMERGENCY. Always seek the advice of your physician or other qualified health provider prior to starting any new treatment or with any questions you may have regarding a medical condition.
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