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.
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References
Markowitz JA, Singh P, Darras BT. Spinal muscular atrophy: a clinical and research update. Pediatr Neurol. 2012;46:1–12.
Panigrahi I, Kesanri A, Phadke SR, Mittal B. Clinical and molecular diagnosis of spinal muscular atrophy. Neurol India. 2002;50:117–122.
Lunn MR, Wang CH. Spinal muscular atrophy. Lancet. 2008;371:2120–2133.
Lefebvre S, Burglen L, Reboullet S, Clermont O, Burlet P, Viollet L, et al. Identification and characterization of a spinal muscular atrophy-determining gene. Cell. 1995;80:155–165.
Gerard B, Ginet N, Matthijs G, Evrard P, Baumann C, Da Silva F, et al. Genotype determination at the survival motor neuron locus in a normal population and SMA carriers using competitive PCR and primer extension. Hum Mutat. 2000;16:253–263.
Ibrahim S, Moatter T, Saleem AF. Spinal muscular atrophy: Clinical spectrum and genetic mutations in Pakistani children. Neurol India. 2012;60:294–298.
Munsat TL Workshop report. International SMA collaboration. Neuromusc Disord. 1991;1:81.
Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res. 1988;16:1215.
Shawky RM, El-Syed NS. Clinico-epidemiologic characteristics of spinal muscular atrophy among Egyptians. Egypt J Med Hum Genet. 2011;12:25–30.
Klaus Zerres, Sabine Rudnik-Schoneborn. Spinal Muscular Atrophies. In: David L. Rimoin, J. Michael Connor, Reed E. Pyeritz, Bruce R. Korf, Editors. Principles and Practice of Medical Genetics. 5th ed. Elsevier press; 2002. pp.3001–3023.
Feldkotter M, Schwarzer V, Wirth R, TF Weinker and Brunhilde Wirth. Quantitative analyses of SMN1 and SMN2 based on real-time LightCycler PCR: fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy. Am J Hum Genet. 2002;70: 358–368.
Mailman MD, Heinz JW, Papp AC, Snyder PJ, Sedra MS, Wirth B, et al. Molecular analysis of spinal muscular atrophy and modification of the phenotype by SMN2. Genet Med. 2002;4:20–26.
Srivastava S, Mukherjee M, Panigrahi I, Pandey SG, Pradhan S, Mittal B. SMN2-deletion in childhood-onset spinal muscular atrophy. Am J Med Genet. 2001;101:198–202.
Kim J, Lee SG, Choi YS, Kang SW, Lee JB, Choi JR, et al. Association between Survivor Motor Neuron 2 (SMN2) gene homozygous deletion and sporadic lower motor neuron disease in a Korean population. Ann Clin Lab Sci. 2010;40:368–374.
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Sheth, J.J., Patel, H., Mehta, S. et al. Clinical and molecular characterization of patients with gross hypotonia and impaired lower motor neuron function. Indian Pediatr 50, 591–593 (2013). https://doi.org/10.1007/s13312-013-0168-z
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DOI: https://doi.org/10.1007/s13312-013-0168-z