 Hereditary
Motor Sensory Neuropathy
(Charcot-Marie-Tooth Disease)
What is HMSN?
Hereditary motor
sensory neuropathy (HMSN) is an inherited, progressive disease of the
nerves with weakness and numbness more pronounced in the legs than the
arms. The nerves stop sending messages to different areas of the body,
like the hands and feet, because parts of the nerve cells deteriorate.
The muscles in the hands and feet get weak because they no longer receive
messages from the nerves, and therefore are not being used. Symptoms vary
greatly. There can be fatigue, pain, lack of balance, feeling, reflexes,
sight and hearing. There can be high arched feet, hammer toes, foot drop,
and foot deformities, and possibly scoliosis.
Who Gets HMSN?
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 offspring getting HMSN is 50%
if one parent has it. However, it can also be contracted randomly.
How is HMSN 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 velocities
can help diagnose the type of HMSN as well as measure its severity. Specialized
DNA blood tests are helpful in some cases.
How is HMSN 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 therapy, stretching, strengthening, moderate
activity, braces, and orthopedic surgery may help manage these symptoms.
Most people with HMSN can walk throughout their life and are self-sufficient.
HMSN is generally not fatal or life threatening
To Find a Specialist
To find a physician board-certified
to conduct needle EMGs and nerve conduction studies click here: www.abemexam.org
For More Information
Charcot-Marie-Tooth Association:
www.charcot-marie-tooth.org
National Society for Genetic
Counselors (NSGC): www.nsgc.org
Hereditary Disease Foundation:
www.hdfoundation.org
Alliance of Genetic Support
Groups: www.geneticalliance.org
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