CMT (Charcot–Marie–Tooth disease)

Charcot-Marie-Tooth disease (CMT) is one of the most common inherited neurological disorders, affecting approximately 1 in 2,500 people in the United States. The disease is named for the three physicians who first identified it in 1886 - Jean-Martin Charcot and Pierre Marie in Paris, France, and Howard Henry Tooth in Cambridge, England. CMT, also known as hereditary motor and sensory neuropathy (HMSN) or peroneal muscular atrophy, comprises a group of disorders that affect peripheral nerves. Currently incurable, this disease is one of the most common inherited neurological disorders, and was considered a type of Muscular Dystrophy for years.

Cause: 

Charcot–Marie–Tooth disease is caused by mutations that cause defects in neuronal proteins. Nerve signals are conducted by an axon with a myelin sheath wrapped around it. Most mutations in CMT affect the myelin sheath. Some affect the axon.

Types:

CMT can be categorized first into major clinical categories, and then into subtypes according to those mutations. Type 1 primarily affects the myelin sheath, and is either dominant, recessive or X-linked. Type 2 primarily affects the axon, and is either dominant or recessive. Other types are mixed.

Signs & Symptoms:

-Begin in late childhood or early adulthood

-Both motor and sensory nerves involvemen

-Neuropathic pain

-Mild Tremor

Deformity:

-Gross deformity like foot drop, scoliosis, hammer toe.

-Difficulty with carrying out fine motor skills (the coordination of small movements usually in the fingers, hands, wrists, feet, and tongue).

-The lower legs may take on an "inverted champagne bottle" appearance due to the loss of muscle bulk.

-Breathing can be affected in some; so can hearing, vision, as well as the neck and shoulder muscles.

Diagnosis:

-The diagnosis of CMT begins with a standard medical history, family history, and neurological examination.

-This testing consists of two parts: nerve conduction studies and electromyography (EMG). 

Management:

There is no cure for CMT, but physical therapy, occupational therapy and even orthopedic surgery can help individuals cope with the disabling symptoms of the disease. In addition, pain-killing drugs can be prescribed for individuals who have severe pain.

Orthotic management:

-Gait abnormalities can be corrected by the use of either articulated or unarticulated AFOs which helps to control foot drop and ankle instability and often provide a better sense of balance for patients.

-Appropriate footwear is also very important for people with CMT, but they often have difficulty finding well-fitting shoes because of their high arched feet and hammer toes.