Spinal muscular atrophy with respiratory distress type 1 (SMARD1).
J Child Neurol
; 23(2): 199-204, 2008 Feb.
Article
em En
| MEDLINE
| ID: mdl-18263757
ABSTRACT
Autosomal recessive spinal muscular atrophy with respiratory distress type 1 (SMARD1), recently referred to as distal spinal muscular atrophy 1 (DSMA1; MIM#604320) and also known as distal hereditary motor neuropathy type 6 (dHMN6 or HMN6), results from mutations in the IGHMBP2 gene on chromosome 11q13.3 encoding the immunoglobulin micro-binding protein 2. In contrast to the infantile spinal muscular atrophy type 1 (SMA1; Werdnig-Hoffmann disease) with weakness predominantly of proximal muscles and bell-shaped thorax deformities due to intercostal muscle atrophy, infants with distal spinal muscular atrophy 1 usually present with distal muscle weakness, foot deformities, and sudden respiratory failure due to diaphragmatic paralysis that often requires urgent intubation. In this article, the authors review the clinical, neuropathological, and genetic aspects of distal spinal muscular atrophy 1 and discuss differential diagnoses.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Síndrome do Desconforto Respiratório do Recém-Nascido
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Paralisia Respiratória
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Atrofia Muscular Espinal
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Atrofias Musculares Espinais da Infância
Tipo de estudo:
Diagnostic_studies
Limite:
Humans
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Infant
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Newborn
Idioma:
En
Ano de publicação:
2008
Tipo de documento:
Article