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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
a) foot deformity
b) weakness & atrophy of distal limb muscles, especially the peroneus longus & peroneus brevis
c) absent tendon reflexes
- the phenotype differs, however, in that it includes
a) static tremor of the upper limbs
b) gait ataxia
General
syndrome
hereditary neuropathy
Database Correlations
OMIM 180800
References
OMIM :accession 180800