Roussy Levy syndrome

Overview

Type of disease: Rare conditions

Roussy Levy syndrome is an autosomal dominant disease with the clinical characteristics of Charcot-Marie-Tooth (CMT) disease type 1 plus a static tremor in the hands and gait ataxia.   The disease usually begins in infancy and is benign until adolescence. It is characterized by severe alterations in nerve conduction and sensory dysfunction. Roussy Levy syndrome may result from the classic CMT1A PMP22 duplication or a heterozygous mutation in the myelin protein zero (MPZ) gene (mutations in this gene are also associated with CMT1B).  Treatment is symptomatic and supportive. Source: Genetic and Rare Diseases Information Center (GARD), supported by ORDR-NCATS and NHGRI.

Connect. Empower. Inspire.