Spectrum of floppy children in Indian scenario.

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dc.contributor.authorDua, Ten_US
dc.contributor.authorDas, Men_US
dc.contributor.authorKabra, Men_US
dc.contributor.authorBhatia, Men_US
dc.contributor.authorSarkar, Cen_US
dc.contributor.authorArora, Sen_US
dc.contributor.authorSharma, M Cen_US
dc.contributor.authorKalra, Ven_US
dc.date.accessioned2001-11-27en_US
dc.date.accessioned2009-05-27T05:24:09Z
dc.date.available2001-11-27en_US
dc.date.available2009-05-27T05:24:09Z
dc.date.issued2001-11-27en_US
dc.description.abstractOBJECTIVE: To study the clinical profile of paralytic floppy infants undertaking available investigations and detect the frequency of exon7 of survival motor neuron (SMNT) gene deletion among the spinal muscular atrophy (SMA) cases. DESIGN: Descriptive study. SETTING: Tertiary care teaching hospital. SUBJECTS: 70 paralytic floppy infants (40 males/30 females) with age less than 13 years were included in the study. Exclusion criteria included central hypotonia of any cause. Detailed clinical evaluation was done followed by serum creatine phosphokinase levels, electrophysiological studies, muscle biopsy including immunohistochemistry and electron microscopy. Exon7 of SMNT gene deletion studies was done by PCR. RESULTS: Final diagnosis of SMA was assigned to 37 patients followed by congenital myopathy (n = 7), cogenital muscular dystrophy (n = 5), mitochondrial myopathy (n = 4), neuropathies (n = 5) and diaphragmatic SMA (n = 1). Only 15.7% of cases remained unclassified. When EMG was correlated with final diagnosis, it was 80.6% and 75% sensitive and 68.8% and 87.5% specific for neurogenic and muscle disease, respectively. Muscle biopsy revealed neurogenic atrophy in 47.8% cases followed by normal in 37.3% and myopathic pattern in 14.97% cases. Exon7 of SMNT gene was deleted in only 50% of SMA cases. CONCLUSIONS: Spinal muscular atrophy was the commonest cause of floppy children. The low rate of SMNT gene deletion detected needs confirmation with further studies.en_US
dc.description.affiliationDepartment of Pediatrics, All India Institute of Medical Sciences, New Delhi 110 029, India.en_US
dc.identifier.citationDua T, Das M, Kabra M, Bhatia M, Sarkar C, Arora S, Sharma MC, Kalra V. Spectrum of floppy children in Indian scenario. Indian Pediatrics. 2001 Nov; 38(11): 1236-43en_US
dc.identifier.urihttps://imsear.searo.who.int/handle/123456789/10594
dc.language.isoengen_US
dc.source.urihttps://indianpediatrics.neten_US
dc.subject.meshChilden_US
dc.subject.meshChild, Preschoolen_US
dc.subject.meshCyclic AMP Response Element-Binding Proteinen_US
dc.subject.meshElectromyographyen_US
dc.subject.meshExonsen_US
dc.subject.meshFemaleen_US
dc.subject.meshGene Deletionen_US
dc.subject.meshHumansen_US
dc.subject.meshInfanten_US
dc.subject.meshMaleen_US
dc.subject.meshMuscle Hypotonia --diagnosisen_US
dc.subject.meshNerve Tissue Proteins --geneticsen_US
dc.subject.meshRNA-Binding Proteinsen_US
dc.subject.meshSMN Complex Proteinsen_US
dc.subject.meshSpinal Muscular Atrophies of Childhood --diagnosisen_US
dc.subject.meshSurvival of Motor Neuron 1 Proteinen_US
dc.titleSpectrum of floppy children in Indian scenario.en_US
dc.typeEvaluation Studiesen_US
dc.typeJournal Articleen_US
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