Roussy-Levy syndrome; Roussy-Levy hereditary areflexic dystasia

Genetics

• autosomal dominant
• associated with defects in MPZ

Clinical manifestations

• resembles Charcot-Marie-Tooth disease type 1
• presents with
  • foot deformity
  • weakness & atrophy of distal limb muscles, especially the peroneus longus & peroneus brevis
  • absent tendon reflexes
• the phenotype differs, however, in that it includes
  • static tremor of the upper limbs
  • gait ataxia

More general terms

• syndrome
• hereditary neuropathy

Database

• OMIM: https://mirror.omim.org/entry/180800