Open AccessVery severe spinal muscular atrophy: Type 0 with Dandy-Walker variant
Author(s) -
Geeta Gathwala,
Joginder Silayach,
Bhanu Kiran Bhakhari,
Varun Narwal
Publication year - 2014
Publication title -
journal of pediatric neurosciences
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.247
H-Index - 18
eISSN - 1998-3948
pISSN - 1817-1745
DOI - 10.4103/1817-1745.131488
Subject(s) - medicine , sma* , spinal muscular atrophy , hypotonia , weakness , muscle contracture , dandy–walker syndrome , anatomy , spinal cord , motor neuron , pathology , disease , pediatrics , surgery , hydrocephalus , mathematics , combinatorics , psychiatry
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.