Roussy Levy syndrome

Disease Overview

Roussy Levy syndrome is a term used to describe a neuromuscular disorder that typically becomes apparent during early childhood. This syndrome is considered a form of Charcot-Marie-Tooth (CMT) disease. Individuals with this disorder have clinical symptoms similar to Charcot-Marie-Tooth (CMT) disease type 1, which is characterized by muscle weakness and atrophy, poor judgement of movement (sensory ataxia), absent reflexes (areflexia) of the lower legs and hands, and abnormally high arches of the feet (pes cavus or “clawfoot”). Additional features of rhythmic shaking (static tremor) in the hands and an unsteady gait (gait ataxia) are specific to Roussy Levy syndrome.[3520][3521][3522][3523] This disorder is caused by issues with nerve conduction and sensory dysfunction.[3520] Roussy Levy syndrome may result from a duplication of the PMP22 gene (which is also associated with CMT1A) or a mutation in the myelin protein zero (MPZ) gene (mutations in this gene are also associated with CMT1B).[3522] Roussy Levy syndrome is inherited in an autosomal dominant manner.[3521][3523] Treatment is based on the signs and symptoms present in each person.[3524]

Synonyms

• Roussy Levy hereditary areflexic dystasia
• Roussy-Levy disease
• Hereditary areflexic dystasia
• Charcot-Marie-Tooth Disease (Variant)
• Charcot-Marie-Tooth-Roussy-Levy Disease
• Hereditary Motor Sensory Neuropathy I
• HMSN I