Congenital Hypomyelinating Neuropathy (CHN)

What is Congenital Hypomyelinating Neuropathy (CHN)?

CHN is a subtype of Charcot-Marie-Tooth disease (CMT), a genetic, neurological disorder that causes damage to the peripheral nerves — tracts of nerve cell fibers that connect the brain and spinal cord to muscles and sensory organs.

Unlike other types of CMT, CHN is associated with reduced myelin formation (hypomyelination) from birth rather than a breakdown of existing myelin. Both genetically and clinically, it’s similar to Dejerine-Sottas disease, but usually has an earlier onset and slower progression.

What are the symptoms of CHN?

The symptoms of CHN are generalized weakness and loss of sensation, particularly in the peripheral areas of the body, such as the lower legs and feet, forearms and hands. It has an early onset but usually has a nonprogressive or slowly progressive course. Many children with CHN experience gradual improvements in strength as they grow up.

What causes CHN?

CHN is caused by defects in genes that influence the formation of myelin, an insulating coating on nerve fibers (axons). CHN is inherited in an autosomal recessive pattern. For more, see Causes/Inheritance.

What is the progression of CHN?

CHN has its onset at birth or in early infancy, and a nonprogressive or slowly progressive course.

What is the status of research on CHN?

CHN research is focused on exploring the effects of defects in genes related to the peripheral nervous system and devising strategies to combat these effects.

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