Utility of Charcot-Marie-Tooth Neuropathy Score in Children With Type 1A Disease

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064203%3A_____%2F10%3A6374" target="_blank" >RIV/00064203:_____/10:6374 - isvavai.cz</a>

Alternative codes found

RIV/00216208:11130/10:6374

Result on the web

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DOI - Digital Object Identifier

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Result language

angličtina

Original language name

Utility of Charcot-Marie-Tooth Neuropathy Score in Children With Type 1A Disease

Original language description

The aim of this study was to evaluate the utility of the Charcot-Marie-Tooth Neuropathy Score (CMTNS) for evaluation of disease severity in young children with Charcot-Marie-Tooth type 1A. There is no validation of scales for young children. Children with genetically proven CMT1A disease (n = 20, aged 3 to 10 years) were examined clinically, followed by electrophysiologic examination, and were scored under the CMTNS scale. The clinical symptoms were mild; the two most frequent symptoms were difficulty in heel walking and lower limb areflexia. The score was maximally abnormal in four of the nine categories. Categories for sensation, sensory symptoms, and motor symptoms of the arms were normal in all cases. The score was below 8 for all tested children.To conclude, the CMTNS in children aged 10 years and younger has limited sensitivity; out of nine categories, only four are useful. Thus, evaluation of disease severity and progression in young children with CMT disease remains limited.

Czech name

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Czech description

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Type

J_x - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)

CEP classification

FH - Neurology, neuro-surgery, nuero-sciences

OECD FORD branch

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Project

<a href="/en/project/NR9517" target="_blank" >NR9517: The influence of ascorbic acid on phenotyp in Charcot Marie Tooth disease type 1A</a><br>

Continuities

P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)

Publication year

2010

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Name of the periodical

Pediatric Neurology

ISSN

0887-8994

e-ISSN

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Volume of the periodical

43

Issue of the periodical within the volume

6

Country of publishing house

US - UNITED STATES

Number of pages

4

Pages from-to

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UT code for WoS article

000285077300005

EID of the result in the Scopus database

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