Hypertrophic neuropathy of Dejerine-Sottas

Alternate names

Dejerine-Sottas syndrome; DSS; Charcot-Marie-Tooth Disease, type 3; CMT3; Hereditary motor and sensory neuropathy 3; HMSN3; Dejerine-Sottas neuropathy; DSN; Charcot-Marie-Tooth disease type 3; Hereditary motor and sensory neuropathy type 3; HMSN 3; Hypertrophic neuropathy of infancy; Hereditary motor and sensory neuropathy type III; HMSN III

Definition

Hypertrophic neuropathy of Dejerine-Sottas (Dejerine-Sottas syndrome) is a term sometimes used to describe a severe, early childhood form of Charcot-Marie-Tooth disease (sometimes called type 3) that is characterized by sensory loss with ataxia in the limbs furthest from the body and pes cavus with progression towards the limbs closest to the body.

Types

Depending on the specific gene that is altered, this severe, early onset form of the disorder may also be classified as type 1 or type 4.

Cause

Dejerine-Sottas syndrome has been associated with mutations in the MPZ, PMP22, EGR2, and PRX genes.

Inheritance

Autosomal dominant and autosomal recessive inheritance have been described.

Signs and symptoms

It is characterized by sensory loss with ataxia in the limbs furthest from the body and pes cavus with progression towards the limbs closest to the body.

Diagnosis

• On medical imaging, the nerves of the extremities (and cranial nerves in some cases) appear enlarged due to hypertrophy of the connective interstitial tissue, giving the nerves a distinct "onion-bulb" appearance.
• Peripheral (and possibly cranial) nerve excitability and conduction speed are reduced.

Treatment

management is based on sign and symptoms.

NIH genetic and rare disease info

• NIH info on Hypertrophic neuropathy of Dejerine-Sottas

Hypertrophic neuropathy of Dejerine-Sottas is a rare disease.