Progressive ataxia and distal muscular atrophy--differential diagnostic considerations on Roussy-Lévy syndrome

The Roussy-Lévy-Syndrome ist generally considered a pheno-typic variant of the hereditary motor and sensory neuropathy type I (HMSN I), i.e. the classic Charcot-Marie-Tooth-neuropathy, and is thus nosographically distinguishable from Friedreich's ataxia. While posterior column symptomatology, dementia and rapid progression are recognized as diagnostic criteria for Friedreich's ataxia and HMSN I is clinically defined by the typical features of a progressive polyneuropathy, the symptom triad "gait disturbance, areflexia and pes cavus" of the Roussy-Lévy-Syndrome has comparatively little diagnostic specifity. Because of the variability of clinical symptoms as shown by two case reports, the diagnosis of Roussy-Lévy-Syndrome in childhood should be made only with great caution. For early genetic counselling and prognostic evaluation, bioptic and neurophysiologic results are of decisive importance.