About Bioline  All Journals  Testimonials  Membership  News

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
Bioline Code: ni02037
Full paper language: English
Document type: Research Article
Document available free of charge

Neurology India, Vol. 50, No. 2, 2002, pp. 117-122

 en Review Article - Clinical and Molecular Diagnosis of Spinal Muscular Atrophy
I. Panigrahi, A. Kesari, S.R. Phadke, B. Mittal


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.

Carrier analysis, Spinal muscular atrophy, SMN gene, SMA variants

© Copyright 2002 Neurology India. Online full text also at
Alternative site location:

Home Faq Resources Email Bioline
© Bioline International, 1989 - 2023, Site last up-dated on 01-Sep-2022.
Site created and maintained by the Reference Center on Environmental Information, CRIA, Brazil
System hosted by the Google Cloud Platform, GCP, Brazil