title: Very severe spinal muscular atrophy: Type 0 with Dandy-Walker variant.
abstract: 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.
authors.affiliation: Department of Pediatrics, The Division of Neonatal Services, Pandit Bhagwat Dayal Sharma Post Graduate Institute of Medical Sciences, Rohtak, Haryana, India.
authors.forename: Geeta
authors.initials: G
authors.lastname: Gathwala
authors.affiliation: Department of Pediatrics, The Division of Neonatal Services, Pandit Bhagwat Dayal Sharma Post Graduate Institute of Medical Sciences, Rohtak, Haryana, India.
authors.forename: Joginder
authors.initials: J
authors.lastname: Silayach
authors.affiliation: Department of Pediatrics, The Division of Neonatal Services, Pandit Bhagwat Dayal Sharma Post Graduate Institute of Medical Sciences, Rohtak, Haryana, India.
authors.forename: Bhanu Kiran
authors.initials: BK
authors.lastname: Bhakhari
authors.affiliation: Department of Pediatrics, The Division of Neonatal Services, Pandit Bhagwat Dayal Sharma Post Graduate Institute of Medical Sciences, Rohtak, Haryana, India.
authors.forename: Varun
authors.initials: V
authors.lastname: Narwal
keywords: Dandy-Walker variant; neonate; spinal muscular atrophy type 0