Clinical and Molecular Characterization of Patients with Gross Hypotonia and Impaired Lower Motor Neuron Function.
Indian Pediatr
;
2013 June; 50(6): 591-593
Article
Dans Anglais
| IMSEAR
| ID: sea-169852
ABSTRACT
Spinal muscular atrophy (SMA) represents the second most common fatal autosomal recessive disorder after cystic fibrosis. Due to the high carrier frequency, the burden of this genetic disorder is very heavy in developing countries like India. The aim was to study the clinical and molecular characteristics of patients suspected with SMA. It was a cross sectional study of 105 cases from January 2008 to August 2012. Patients’ demographic and presenting features and PCR findings were noted. 65 (62%) cases had a confirmed diagnosis of SMA. Werdnig Hoffman disease (SMA type I) was the commonest variant seen in 34 (52.3%) children. Molecular analysis demonstrated deletion of both exon 7 and 8 of SMN1 gene in 83.1% of cases.
Texte intégral:
Disponible
Indice:
IMSEAR (Asie du Sud-Est)
Type d'étude:
Étude observationnelle
langue:
Anglais
Texte intégral:
Indian Pediatr
Année:
2013
Type:
Article
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