Spinale Muskelatrophie View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2015-11-25

AUTHORS

S. Borell, A. Pechmann, J. Kirschner

ABSTRACT

Spinal muscular atrophy (SMA) is an autosomal recessive disease and the most common genetically linked cause of infant death. It is also one of the most commonly occurring “rare” neuromuscular diseases. The disease is characterized by degeneration of alpha motor neurons resulting in progressive proximal muscle weakness without cognitive impairment. The severity of SMA is highly variable and correlates with the age of onset. The clinical presentation of SMA is classified into five different subtypes: SMA type I presents in the first 6 months of life and constitutes 50–60 % of all SMA cases. Without ventilatory support children with SMA type I die due to severe respiratory insufficiency support within the first 2 years of life. These children are never able to sit unaided. Children with SMA type II have a delayed motor development after they have learned to sit. The life expectancy of children with SMA types III and IV is generally not affected. No causal therapy for SMA exists but the quality of life of patients with SMA can be improved by a supportive treatment concept. The focus of the multidisciplinary care should include physiotherapy as well as measures to improve the respiratory, gastrointestinal and orthopedic problems. Additionally, rehabilitation and psychosocial care for the family are important. Novel causal therapy approaches are currently being tested in clinical studies. More... »

PAGES

1293-1304

References to SciGraph publications

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/s00112-015-0004-8

DOI

http://dx.doi.org/10.1007/s00112-015-0004-8

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1018666302


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