These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Search MEDLINE/PubMed

  • Title: [Progressive ataxia and distal muscular atrophy--differential diagnostic considerations on Roussy-Lévy syndrome].
    Author: Aksu F, Christen HJ, Hanefeld F.
    Journal: Klin Padiatr; 1986; 198(2):114-8. PubMed ID: 3702272.
    Abstract:
    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.
    [Abstract] [Full Text] [Related] [New Search]