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CMT - Charcot-Marie-Tooth Channel

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It's In The Genes
By Jennifer Bradley, Staff Writer

(Page 1 of 4)

Any diagnosis of any disease is scary. When a loved one finds out itís hereditary, the unknown becomes even more concerning.

Neuropathy is a disease of one or more nerves that leads to weakness and wasting of muscles. Most often, this affects muscles below the knees and in hands. Hereditary neuropathy is passed from parents to children. For some types, the genetic defect is definable and can be addressed early on.

A neuropathy can be sensory, motor or autonomic.  A person feels through the sensory nerves and the motor nerves are responsible for movement.  Autonomic nerves are responsible for functions a body naturally does, like breathing and heart rate. The symptoms a loved one may experience if suffering from hereditary neuropathy depends on which nerves are being compromised.

Hereditary neuropathy affects the peripheral nervous system and is divided into four categories: hereditary motor and sensory neuropathy, hereditary sensory neuropathy, hereditary motor neuropathy, and hereditary sensory and autonomic neuropathy.

Types

CMT

The most common type of hereditary neuropathy is Charcot-Marie-Tooth Disease, or CMT. This actually encompasses several neuropathies. CMT is also known as hereditary motor and sensory neuropathy (HMSN) since it affects both motor and sensory nerve function. A parent with CMT has a 50 percent chance of passing it to his or her child.

A diagnosis of CMT is usually classified as Type 1 or Type 2, depending on which part of the peripheral nerve is compromised. Most people with CMT suffer from Type 1, which affects the covering of the nerve and a third of the group has Type 2, which affects the nerve fibers. The most severe form of CMT, Type 3, is also known as Dejerine-Sottas disease. This is when the nerves are thickened, leading to muscle weakness.

Mayo Clinic says that 1 in 2,500 people are affected with some form of CMT, which is caused by gene mutation affecting brain-nerve-muscle communication. It is a slow progressing disease that first appears in teenagers and young to middle-aged adults.

Common symptoms include weakness or pain in the feet or lower legs and later in hands, a foot drop (inability to lift a foot when stepping), high foot arches and decreased calf muscle strength. A person may experience frequent falls due to a clumsy, awkward step.

Life expectancy does not decrease with most forms of CMT.

 

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