Roussy-Lévy syndrome

from Wikipedia, the free encyclopedia
Classification according to ICD-10
G60.0 Hereditary sensorimotor neuropathy - Roussy-Lévy syndrome
ICD-10 online (WHO version 2019)

The Roussy-Lévy syndrome is a very rare congenital disease with the main characteristics of gait disorder (dystasia), arched foot and lack of self-reflexes ( areflexia ).

This triad of symptoms is relatively unspecific in the differential diagnosis. The clinical picture is (now) regarded as a variant of Charcot-Marie-Tooth's disease .

Synonyms are: areflector dystasia, hereditary, Roussy-Levy type; HMSN I; English Charcot-Marie-Tooth Disease (Variant); Charcot-Marie-Tooth-Roussy-Levy Disease; Hereditary Areflexic Dystasia

The name refers to the authors of a first description from 1926 by the French neurologists Gustave Roussy and Gabrielle Lévy .

The clinical picture was simultaneously and independently described by CP Symonds and ME Shaw as well as by CR Rombold and HA Riley .

distribution

The frequency is unknown; the inheritance is autosomal dominant .

root cause

Of the disease are mutations in MPZ - gene on chromosome 1 locus q23.3 encoding myelin protein zero, or in the PMP22 gene on chromosome 17 locus p12 based encoding the Peripheral myelin protein 22nd

Clinical manifestations

Clinical criteria are:

literature

  • C. Smolenski, HP Ludin: Investigation of a family with Roussy-Lévy syndrome. In: Advances in neurological psychiatry. Vol. 52, No. 6, June 1984, pp. 215-221, doi: 10.1055 / s-2007-1002020 , PMID 6745833 .

Individual evidence

  1. ↑ a b Bernfried Leiber (founder): The clinical syndromes. Syndromes, sequences and symptom complexes . Ed .: G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger. 7., completely reworked. Edition. tape 2 : symptoms . Urban & Schwarzenberg, Munich et al. 1990, ISBN 3-541-01727-9 .
  2. ↑ a b Roussy-Lévy syndrome. In: Orphanet (Rare Disease Database).
  3. ↑ F. Aksu, HJ Christen, F. Hanefeld: Progredient Ataxia and Distal Muscular Atrophy - Differential Diagnostic Considerations for Roussy-Lévy Syndrome. In: Clinical Pediatrics. Vol. 198, No. 2, 1986 Mar-Apr, pp. 114-118, doi: 10.1055 / s-2008-1026864 , PMID 3702272 .
  4. ^ G. Roussy, G. Levy: Sept cas d'une maladie familiale particulière . In: Revue Neurologique (Paris). Vol. 45, 1926, pp. 427-450.
  5. ^ CP Symonds, ME Shaw: Familial claw-foot with absent tendon jerks. In: Brain Vol. 49, 1926, pp. 387-403.
  6. ^ CR Rombold, HA Riley: The abortive type of Friedreich's disease. In: Archives of Neurology and Psychiatry Vol. 16, 1926, pp. 301-312.
  7. ^ Roussy-Levy syndrome.  In: Online Mendelian Inheritance in Man . (English)

Web links