Erschienen in:
27.07.2016 | Scientific Letter
Electrocardiographic Tremor as an Important Diagnostic Aid in Spinal Muscular Atrophy
verfasst von:
Hansashree Padmanabha, Razia Adam Kadwa, Jitendra Kumar Sahu, Pratibha D. Singhi
Erschienen in:
Indian Journal of Pediatrics
|
Ausgabe 12-13/2016
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Excerpt
To the Editor: Spinal muscular atrophy (SMA) is an autosomal recessive disorder characterized by progressive muscle weakness and atrophy due to degeneration of motor neurons in the spinal cord and lower brainstem motor nuclei which results from homozygous deletions or mutations involving the “survival of motor neuron” (
SMN) gene at locus 5q13 [
1]. We report a case that highlights the diagnostic utility of electrocardiography (ECG) in the evaluation of children with suspected SMA. …