Nervenheilkunde 2011; 30(10): 787-796
DOI: 10.1055/s-0038-1628426
Deutsche Gesellschaft für Muskelerkrankungen
Schattauer GmbH

Spinal muscular atrophies

Article in several languages: deutsch | English
S. Rudnik-Schöneborn
1  Institut für Humangenetik der RWTH Aachen
,
K. Zerres
1  Institut für Humangenetik der RWTH Aachen
› Author Affiliations
Further Information

Publication History

Eingegangen am: 25 May 2011

angenommen am: 08 June 2011

Publication Date:
22 January 2018 (online)

Summary

The term spinal muscular atrophy (SMA) comprises a clinically and genetically heterogeneous group of diseases characterized by degeneration and loss of anterior horn cells in the spinal cord and sometimes also in the brainstem nuclei, resulting in muscle weakness and atrophy. The autosomal recessive proximal SMA (SMA 5q) is responsible for about 80 to 90% of all SMA cases and is classified according to clinical severity into the types I-III (IV). Since more than 90% of patients show a homozygous deletion of the SMN1 gene, molecular genetic testing has become the most important diagnostic tool. With increasing knowledge of other genes that cause anterior horn cell degeneration, our understanding for the pathogenesis and possible therapeutic interventions will improve. Despite promising results from genetic studies, preliminary clinical trials and experiments with animal models, a curative treatment of SMA is not yet available.