Mapping the differences in care for 5,000 Spinal Muscular Atrophy patients, a survey of 24 national registries in North America, Australasia and Europe

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216224%3A14110%2F14%3A00075540" target="_blank" >RIV/00216224:14110/14:00075540 - isvavai.cz</a>

Alternative codes found

RIV/00216208:11130/14:10292790 RIV/00064203:_____/14:10292790

Result on the web

<a href="http://dx.doi.org/10.1007/s00415-013-7154-1" target="_blank" >http://dx.doi.org/10.1007/s00415-013-7154-1</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1007/s00415-013-7154-1" target="_blank" >10.1007/s00415-013-7154-1</a>

Result language

angličtina

Original language name

Mapping the differences in care for 5,000 Spinal Muscular Atrophy patients, a survey of 24 national registries in North America, Australasia and Europe

Original language description

Spinal muscular atrophy (SMA) is an autosomal recessive genetic disorder characterised by the degeneration of motor neurons and progressive muscle weakness. It is caused by homozygous deletions in the survival motor neuron gene on chromosome 5. SMA showsa wide range of clinical severity, with SMA type I patients often dying before 2 years of age, whereas type III patients experience less severe clinical manifestations and can have a normal life span. Here, we describe the design, setup and utilisationof the TREAT-NMD national SMA patient registries characterised by a small, but fully standardised set of registry items and by genetic confirmation in all patients. We analyse a selection of clinical items from the SMA registries in order to provide a snapshot of the clinical data stratified by SMA subtype, and compare these results with published recommendations on standards of care. Our study included 5,068 SMA patients in 25 countries.

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

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Continuities

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year

2014

Confidentiality

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

Name of the periodical

European Journal of Neurology

ISSN

0340-5354

e-ISSN

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Volume of the periodical

261

Issue of the periodical within the volume

1

Country of publishing house

DE - GERMANY

Number of pages

12

Pages from-to

152-163

UT code for WoS article

000330962500017

EID of the result in the Scopus database

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