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[Progressive ataxia and distal muscular atrophy--differential diagnostic considerations on Roussy-Lévy syndrome].
Klin Padiatr. 1986 Mar-Apr; 198(2):114-8.KP

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.

Authors

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Pub Type(s)

English Abstract
Journal Article

Language

ger

PubMed ID

3702272

Citation

Aksu, F, et al. "[Progressive Ataxia and Distal Muscular Atrophy--differential Diagnostic Considerations On Roussy-Lévy Syndrome]." Klinische Padiatrie, vol. 198, no. 2, 1986, pp. 114-8.
Aksu F, Christen HJ, Hanefeld F. [Progressive ataxia and distal muscular atrophy--differential diagnostic considerations on Roussy-Lévy syndrome]. Klin Padiatr. 1986;198(2):114-8.
Aksu, F., Christen, H. J., & Hanefeld, F. (1986). [Progressive ataxia and distal muscular atrophy--differential diagnostic considerations on Roussy-Lévy syndrome]. Klinische Padiatrie, 198(2), 114-8.
Aksu F, Christen HJ, Hanefeld F. [Progressive Ataxia and Distal Muscular Atrophy--differential Diagnostic Considerations On Roussy-Lévy Syndrome]. Klin Padiatr. 1986 Mar-Apr;198(2):114-8. PubMed PMID: 3702272.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [Progressive ataxia and distal muscular atrophy--differential diagnostic considerations on Roussy-Lévy syndrome]. AU - Aksu,F, AU - Christen,H J, AU - Hanefeld,F, PY - 1986/3/1/pubmed PY - 1986/3/1/medline PY - 1986/3/1/entrez SP - 114 EP - 8 JF - Klinische Padiatrie JO - Klin Padiatr VL - 198 IS - 2 N2 - 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. SN - 0300-8630 UR - https://www.unboundmedicine.com/medline/citation/3702272/[Progressive_ataxia_and_distal_muscular_atrophy__differential_diagnostic_considerations_on_Roussy_Lévy_syndrome]_ L2 - http://www.thieme-connect.com/DOI/DOI?10.1055/s-2008-1026864 DB - PRIME DP - Unbound Medicine ER -