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Prevalence of exon 7/exon 8 deletion in patients with hypotonia and spinal muscular atrophy

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Title Prevalence of exon 7/exon 8 deletion in patients with hypotonia and spinal muscular atrophy
 
Creator G, Aswathy C
H, Sankar V
Alex, Sherrin T
S, Santhi
Dasaradh, Haritha
 
Subject Hypotonia
MLPA
SMA
SMN1
SMN2
 
Description 810-814
Spinal Muscular Atrophy (SMA) is a neuromuscular disease due to degeneration of the anterior horn cells of the spinal
cord. The estimated incidence of SMA is 1:6,000-1:10,000. The complete deletion of exon 7 of the SMN1 gene is the
hallmark of 95-98% of SMA patients in most population. The first line of investigation for a child or young adult patient
suspected to have SMA should be Multiplex ligation-dependent probe amplification (MLPA) testing for homozygous
deletion of exons 7 and exon 8 in the SMN1 gene. In this paper, we report the results of SMN 1 exon 7 deletion tests in
children who attended the Genetic clinic of a tertiary care hospital in Kerala with one or more of the symptoms especially
floppy infants, hypotonia, muscle weakness, tongue fasiculations etc. SMN1 exon 7 and exon 8 deletion was confirmed in
58% cases (19) of the total 33 hypotonia patients. SMA Type I, Type II and Type III were 68.4% (13), 21% (4) and 10.5%
(2) respectively among the SMA positive cases. Carrier testing of the non-consanguineous parents showed that all parents
were heterozygous carriers. Until 2016, the treatment for this disease was supportive only. Recently Nusinersen, Zolgensma
and Risdiplam have become available for SMA patients. The carrier testing in parents with previous SMA child history is
essential for the implementation of prenatal diagnosis of this disorder in future pregnancies. The paper emphasizes the
importance of this rare neuromuscular disease.
 
Date 2024-11-05T11:54:16Z
2024-11-05T11:54:16Z
2024-10
 
Type Article
 
Identifier 0975-1009 (Online); 0019-5189 (Print)
http://nopr.niscpr.res.in/handle/123456789/64827
https://doi.org/10.56042/ijeb.v62i10.2583
 
Language en
 
Publisher NIScPR-CSIR,India
 
Source IJEB Vol.62(10) [October 2024]