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 CASE REPORT
Year : 2014  |  Volume : 9  |  Issue : 1  |  Page : 55-56

Very severe spinal muscular atrophy: Type 0 with Dandy-Walker variant


Department of Pediatrics, The Division of Neonatal Services, Pandit Bhagwat Dayal Sharma Post Graduate Institute of Medical Sciences, Rohtak, Haryana, India

Correspondence Address:
Geeta Gathwala
Department of Pediatrics, The Division of Neonatal Services, 6J/8, Medical Campus, Pandit Bhagwat Dayal Sharma Post Graduate Institute of Medical Sciences, Rohtak - 124 001, Haryana
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/1817-1745.131488

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Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease characterized by degeneration of alpha motor neurons in the spinal cord, resulting in progressive proximal muscle weakness and paralysis. In addition to the three classical SMA types, a new form known as type 0 with intrauterine onset, profound hypotonia and a progressive and early fatal course has been described. Herein we report a case of type 0 SMA with a Dandy Walker variant anomaly, which has not hitherto been reported in the world literature.






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