What is Hereditary Motor Sensory Neuropathy?
Hereditary motor sensory neuropathy (HMSN), also known as Charcot-Marie-Tooth Disease, is an inherited, progressive disease of the nerves with weakness and numbness more pronounced in the legs than the arms. Parts of the nerve cells deteriorate. The muscles in the hands and feet get weak because they no longer receive normal impulses from the nerves, and therefore are not being used adequately. Symptoms vary greatly. In addition to muscle weakness, there can be fatigue, pain, numbness, lack of balance, sight and hearing. There can be high arched feet, hammer toes, foot drop, and foot deformities, and possibly scoliosis.
Who gets Hereditary Motor Sensory Neuropathy?
Approximately 150,000 Americans will be affected by HMSN. It is found around in the world and in anybody. Most often it is inherited. The chance of a child getting HMSN is 50% if one parent has it. However, it can also be contracted randomly.
How is Hereditary Motor Sensory Neuropathy diagnosed?
Those with HMSN need to undergo a complete clinical evaluation. This evaluation should check for muscle atrophy, weakness, and sensory responses, and should include a detailed patient history. EMGs and motor nerve conduction test can help diagnose the type of HMSN as well as measure its severity. Specialized DNA blood tests are helpful in some cases.
How is Hereditary Motor Sensory Neuropathy treated?
Currently, no definitive treatment exists for HMSN. It cannot be stopped or reversed, but it can reach a point where the progression steadies itself. Current treatment consists of physical and occupational therapy, stretching, strengthening, moderate activity, braces, and orthopedic surgery to help managing these symptoms. Most people with HMSN can walk throughout their life and are self-sufficient. HMSN is generally not fatal or life threatening. If somebody has HMSN, patient has to make sure all his/her physicians know it. There are certain medications that should not be prescribed since they can make symptoms worse.
More information on Hereditary Motor Sensory Neuropathy
National Society for Genetic Counselors
Hereditary Disease Foundation
Hereditary Neuropathy Foundation
Alliance of Genetic Support Groups