A case of the Roussy-Levy syndrome family.
Roussy-Levy syndrome, also known as hereditary areflexic dystasia, is a very rare genetic neuromuscular disorder that typically becomes apparent during early childhood. The disorder is characterised by inherited gait ataxia, pes cavus and areflexia which are eventually associated with distal muscle atrophy, postural tremor and minor sensory loss. We report a family whose members in three generations (grandmother, mother, daughters) were showing these clinical signs of Roussy-Levy syndrome. All of these women have displayed gait ataxia, areflexia, pes cavus and sideways curvature of the spine (kyphoscoliosis).
Bartosik-Psujek
H
H
Department of Neurology, Medical University of Lublin.
Stelmasiak
Z
Z
D000328:Adult; D000368:Aged; D002607:Charcot-Marie-Tooth Disease / Q000175:diagnosis* / Q000235:genetics*; D005260:Female; D006801:Humans