Roussy-Lévy syndrome

Roussy-Lévy syndrome (also known as Roussy-Lévy hereditary areflexic dystasia) is a rare inherited neurological disorder that is now generally considered a variant of Charcot-Marie-Tooth disease type 1 (CMT1), specifically a demyelinating hereditary motor and sensory neuropathy. It was first described in 1926 by Gustave Roussy and Gabrielle Lévy. The condition primarily affects the peripheral nervous system, leading to progressive weakness and wasting (atrophy) of the muscles in the distal limbs, particularly the feet and legs, and later the hands. A distinguishing feature of Roussy-Lévy syndrome compared to classic CMT1 is the prominent presence of postural (essential-type) tremor of the hands and sensory ataxia, which can appear early in the disease course. The syndrome typically presents in early childhood with difficulty walking, foot deformities such as pes cavus (high-arched feet) and hammer toes, absent deep tendon reflexes (areflexia), and progressive distal muscle weakness. Patients often develop a steppage gait due to foot drop. Sensory loss, particularly of proprioception and vibration sense, contributes to gait unsteadiness and ataxia. Nerve conduction studies show markedly reduced motor nerve conduction velocities consistent with a demyelinating neuropathy. Scoliosis may also develop. The condition is caused by mutations in genes associated with CMT1, most commonly the PMP22 gene (including the 17p11.2 duplication) or the MPZ gene. The disease follows an autosomal dominant inheritance pattern. There is currently no cure for Roussy-Lévy syndrome. Treatment is supportive and symptomatic, focusing on physical therapy and rehabilitation to maintain muscle strength and mobility, orthotic devices (such as ankle-foot orthoses) to assist with walking, and occupational therapy for hand function. Orthopedic surgery may be considered for severe foot deformities or scoliosis. The tremor may be managed with medications such as beta-blockers in some cases. The disease is slowly progressive, and most patients maintain the ability to walk, though some may require assistive devices over time. Regular monitoring by a multidisciplinary team including neurologists, physiatrists, and orthopedic specialists is recommended.

Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.

Common questions about Roussy-Lévy syndrome