GTR Home > Conditions/Phenotypes > Dejerine-Sottas disease

Summary

Dejerine-Sottas neuropathy is a demyelinating peripheral neuropathy with onset in infancy. It can show autosomal dominant or recessive inheritance. Affected individuals have delayed motor development due to severe distal motor and sensory impairment, resulting in difficulties in gait. Some patients have generalized hypotonia in infancy. Other features may include pes cavus, scoliosis, and sensory ataxia. Nerve conduction velocities are severely decreased (sometimes less than 10 m/s), and sural nerve biopsy shows severe loss of myelinated fibers (summary by Baets et al., 2011). [from OMIM]

Available tests

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Associated genes

Clinical features

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  • Hyporeflexia
  • Areflexia
  • Distal muscle weakness
  • Increased CSF protein
  • Hypertrophic nerve changes
  • Distal sensory impairment
  • Segmental peripheral demyelination/remyelination
  • Onion bulb formation
  • Nystagmus
  • Ulnar claw
  • Muscular hypotonia
  • Motor delay
  • Pes cavus
  • Hammertoe
  • Kyphoscoliosis
  • Steppage gait
  • Decreased number of peripheral myelinated nerve fibers
  • Decreased motor nerve conduction velocity
  • Distal amyotrophy
  • Foot dorsiflexor weakness
  • Sensory ataxia
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