Hypertrophic neuropathy of Dejerine-Sottas
Alternate names[edit | edit source]
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[edit | edit source]
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[edit | edit source]
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[edit | edit source]
Dejerine-Sottas syndrome has been associated with mutations in the MPZ, PMP22, EGR2, and PRX genes.
Inheritance[edit | edit source]
Autosomal dominant and autosomal recessive inheritance have been described.
Signs and symptoms[edit | edit source]
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[edit | edit source]
- 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[edit | edit source]
management is based on sign and symptoms.
NIH genetic and rare disease info[edit source]
Hypertrophic neuropathy of Dejerine-Sottas is a rare disease.
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