What is Marie-Tooth Disease?
CMT affects the peripheral nerves, which are those outside of the brain and spinal cord. These nerves connect the central nervous system to muscles and sensory organs such as the skin, tongue, and internal organs. CMT causes the peripheral nerves to deteriorate or die, leading to muscle wasting and weakness.
Types of Charcot-Marie-Tooth Disease
There are different subtypes and genetic variations of Charcot-Marie-Tooth Disease that are categorized based on which genes are involved and how fast the disease progresses. The main types include:
CMT1 - Also known as demyelinating CMT, is characterized by decreased nerve conduction velocity. It accounts for about 60% of all CMT cases. Symptoms usually appear in the first two decades of life.
CMT2 - Also known as axonal CMT, is characterized by nerve fibers that conduct electrical impulses normally or near normally. Symptoms tend to appear later in life compared to CMT1.
CMT-X - An X-linked form that affects males. Accounts for about 10% of all CMT cases.
CMT4 - A rare, severe form that leads to additional sensory and motor problems beyond the feet and lower legs. Onset is usually in childhood.
CMT-DI - A subtype associated with mutations that cause dysmyelination leading to delayed nerve conduction velocities similar to CMT1.
CMT-T - A rare dominant form caused by mutations in the thrombospondin 2 gene. Leads to sensory loss and weakness.
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