Is Roussy-Levy Syndrome the same as Charcot-Marie-Tooth Disease?

ABSTRACT

We report data on 2 members of a family affected by a dominantly inherited disorder closely resembling Roussy-Levy syndrome(RLS) Electrophysiological findings showed a marked decrease of motor and sensory conduction velocities and mild neurogenic damage. Light and electron microscopy of sural nerve biopsy showed a hypertrophic neuropathy with diffuse onion-bulb formations and marked decrease of large size fibers. Teased fiber preparations revealed reduced internodal lengths and segmental demyelination. The hypothesis that RLS is not a disease entity but a hypertrophic-type of Charcot-Marie Tooth disease with essential tremor(HMSN type 1) is strongly supported.