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Year : 2019  |  Volume : 8  |  Issue : 2  |  Page : 125-127

Type (0) spinal muscular atrophy associated with fractures at birth

Department of Neonatology, LNJP and Allied Hospital, Maulana Azad Medical College, New Delhi, India

Correspondence Address:
Dr. Ashish Jain
601 A, Sukhsagar Apts, Plot No. 12, Sector 9, Dwarka, New Delhi - 110 075
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/jcn.JCN_105_18

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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 mentioned worldwide, a new form known as Type 0 with intrauterine onset in the form of fetal akinesia and profound hypotonia manifesting as birth asphyxia and a progressive, and early fatal course has been described. Here, we report a case of Type 0 SMA presenting with bilateral symmetrical fracture of long bones at birth, which has been reported miniscule in the world literature.

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