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Roussy-Lévy syndrome

Disease definition

A rare demyelinating hereditary motor and sensory neuropathy characterized by prominent gait ataxia, pes cavus, tendon areflexia, distal limb weakness, tremor in the upper limbs, distal sensory loss, kyphoscoliosis, and progressive muscle atrophy. The disease becomes symptomatic in infancy or childhood, mode of inheritance is autosomal dominant.

ORPHA:3115

Classification level: Disorder
  • Synonym(s):
    • Hereditary areflexic dystasia, Roussy-Lévy type
  • Prevalence: -
  • Inheritance: -
  • Age of onset: Infancy, Childhood
  • ICD-10: G60.0
  • ICD-11: 8C20.Y
  • OMIM: 180800
  • UMLS: C0205713
  • MeSH: -
  • GARD: 4741
  • MedDRA: -

  A summary on this disease is available in Deutsch (2020) Español (2020) Français (2020) Nederlands (2020)

Detailed information

Clinical Outcome Assessment (COA)

  • Patient-Centered Outcome Measures (PCOMs)
  • English (2023) - PROQOLIDTM
ERN produced/endorsed by ERN(s)   FSMR produced/endorsed by FSMR(s)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.