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Roussy-Lévy disease

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A hereditary disease of the nervous system - spinocerebellar degeneration - with lower limb muscular atrophy, sensory ataxia, bilateral pes cavus, loss of deep reflexes and sometimes upgoing toes on examination of the plantar reflex. Sometimes severe curvature of the spine (scoliosis), and digital clawing and club feet. Cerebellar signs are often mild with truncal ataxia being the most prominent. Inheritance is autosomal dominant. Onset is during infancy or childhood. Symptoms include clumsiness of the hands, and disturbance of gait caused by impaired equilibrium. Symptoms first appear in early childhood and progress slowly throughout life. Inheritance is autosomal dominant.

It was reported by Roussy and Lévy in 1926. Spillane in 1940 described a family with 21 members, 16 of whom showed typical signs of this syndrome, four had an explosive type of speech, two or three showed signs of typical peroneal muscular atrophy, and one showed Friedreich's ataxia. Additional associated features, such as kyphoscoliosis, mental deficiency, and localized muscular atrophies, were later reported by various writers.

As described by Roussy and Lévy, the condition is first seen in infancy when there is a noticeable delay in walking.

This syndrome may be distinguished from Friedreich's ataxia by the absence of cerebellar and pyramidal signs; from Charcot-Marie-Tooth syndrome by the absence of sensory and vasomotor changes.

Independent of Roussy and Lévy the condition was described by Symonds and Shaw and by Rombold and Riley. J. Laprèsle 30 years later published a conclusive investigation of the course in four of Roussy and Lévy’s cases,


  • G. Roussy, G. Lévy:
    Sept cas d’une maladie familiale particulière: Troubles de la marche, pieds bots et aréflexie tendineuse généralisée, avec, accessoirement, légère maladresse des mains.
    Revue neurologique, Paris, 1926, 1: 427-450. La dystasie aréflexique héréditaire.
    Presse médicale, Paris, 1932, 40: 1733.
  • C. P. Symonds, M. E. Shaw:
    Familial claw-foot with absent tendon jerks: A forme fruste of the Charcot-Marie-Tooth disease.
    Brain, Oxford, 1926, 49: 387-403.
  • R. R. Rombold, H. A. Riley:
    The abortive type of Friedreich’s disease.
    Archives of Neurology and Psychiatry, Chicago, 1926, 16: 301-312.
  • J. Laprèsle:
    Contribution à l’étude de la dystasie aréflexique héréditaire. État actuel de 4 des 7 cas princeps de Roussy et Mlle. Lévy, 30 ans après la première publication de ces auteurs.
    Semaine des hôpitaux de Paris, 1956, 32: 2473-2482.

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