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

Kód výsledku v 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>

Nalezeny alternativní kódy

RIV/00216208:11130/10:6374

Výsledek na webu

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DOI - Digital Object Identifier

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Jazyk výsledku

angličtina

Název v původním jazyce

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

Popis výsledku v původním jazyce

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.

Název v anglickém jazyce

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

Popis výsledku anglicky

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.

Druh

J_x - Nezařazeno - Článek v odborném periodiku (Jimp, Jsc a Jost)

CEP obor

FH - Neurologie, neurochirurgie, neurovědy

OECD FORD obor

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Projekt

<a href="/cs/project/NR9517" target="_blank" >NR9517: Vliv kyseliny askorbové na fenotyp hereditární neuropatie Charcot Marie Tooth typ 1A</a><br>

Návaznosti

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

Rok uplatnění

2010

Kód důvěrnosti údajů

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

Název periodika

Pediatric Neurology

ISSN

0887-8994

e-ISSN

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Svazek periodika

43

Číslo periodika v rámci svazku

6

Stát vydavatele periodika

US - Spojené státy americké

Počet stran výsledku

4

Strana od-do

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Kód UT WoS článku

000285077300005

EID výsledku v databázi Scopus

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