Roussy-Lévy syndrome

Roussy-Lévy syndrome, also called Roussy-Lévy areflexic dystasia, is a rare inherited disorder of the peripheral nerves that causes progressive muscle wasting. It is autosomal dominant and has been linked to a duplication of the PMP22 gene and to a missense mutation in the MPZ gene, both needed for the myelin sheath. Symptoms usually begin in infancy or early childhood and include absent tendon reflexes, weakness of the distal limb muscles, gait ataxia, high-arched feet, tremor and foot deformity, and progression may stop around age 30. Because the same genes are involved in Charcot-Marie-Tooth disease, it is debated whether it is a separate disease. There is no drug treatment; physical therapy, foot care and sometimes surgery help, and life expectancy is normal.