Dejerine-Sottas disease

What is Dejerine-Sottas disease?

Dejerene-Sottas (DS) 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. DS is named for Joseph Dejerine and Jules Sottas, French neurologists who first described the disorder in 1893.

DS is sometimes classified as a subgroup of CMT4, and also is sometimes called type 3 hereditary motor and sensory neuropathy or HMSN3.

What are the symptoms of DS?

DS is a severe neuropathy (disease or abnormality of the nerves), with generalized weakness sometimes progressing to profound disability, loss of or changes in sensation, curvature of the spine and sometimes mild hearing loss. For more, see Signs and Symptoms.

What causes DS?

DS is caused by defects in the genes for proteins found in axons, fibers that carry electrical signals between the brain and spinal cord and the rest of the body, or in the genes for proteins found in myelin, a coating on axons that insulates and nourishes them.

DS is inherited in an autosomal dominant or recessive pattern. For more, see Causes/Inheritance.

What is the progression of DS?

DS begins in infancy or early childhood, and progresses slowly. Severe disability may eventually occur.

What is the status of research on DS?

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