Condition: Roussy Levy Syndrome

Roussy-Levy Syndrome, also known as hereditary areflexic dystasia, is a rare genetic neuromuscular disorder that typically becomes apparent during early childhood. The disorder is characterized by incoordination, poor judgment of movements (sensory ataxia), and absence of reflexes (areflexia) of the lower legs and, eventually, the hands; weakness and degeneration (atrophy) of muscles of the lower legs; abnormally high arches of the feet with increased extension of the toes (pes cavus or “clawfoot”); and tremors of the hands.

Many affected individuals also have an abnormal front-to-back and sideways curvature of the spine (kyphoscoliosis). In individuals with Roussy-Levy Syndrome, there is a failed communication of certain nerve signals to muscles of the lower legs (denervation). Roussy-Levy Syndrome is inherited as an autosomal dominant genetic trait.