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Neurology India
Medknow Publications on behalf of the Neurological Society of India
ISSN: 0028-3886 EISSN: 0028-3886
Vol. 50, No. 2, 2002, pp. 117-122
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Bioline Code: ni02037
Full paper language: English
Document type: Research Article
Document available free of charge
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Neurology India, Vol. 50, No. 2, 2002, pp. 117-122
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Review Article - Clinical and Molecular Diagnosis of Spinal Muscular Atrophy
I. Panigrahi, A. Kesari, S.R. Phadke, B. Mittal
Abstract
The spinal muscular atrophies are a group of disorders characterized by flaccid limb weakness. It is necessary to differentiate these from other causes and identify the SMA variants. In classical SMA, majority of the patients shows homozygous deletion of the telomeric SMN gene (SMN1) on chromosome 5q. The availability of DNA analysis has allowed proper genetic counseling and prenatal diagnosis in the affected families. Application of newer techniques has enabled more accurate carrier detection. Our objective is to stress the variability in the clinical features and recent advances in the molecular diagnosis for SMA.
Keywords
Carrier analysis, Spinal muscular atrophy, SMN gene, SMA variants
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