Type 0 Spinal Muscular Atrophy in rare association with congenital contracture and generalized osteopenia: A Case Report
Iranian Journal of Child Neurology,
Vol. 12 No. 1 (2018),
1 Dey 2018
,
Page 105-108
https://doi.org/10.22037/ijcn.v12i1.12023
Abstract
Abstract
Spinal muscular atrophy (SMAs) is a group of rare autosomal recessive diseases in which there is degeneration of alpha motor neurons in the spinal cord leading to progressive distal motor weakness. Here we report a case of type 0 SMA in newborn with generalized osteopenia and bony deformity in form of unilateral club foot. It may be emphasized that diagnosis of SMA should be kept in mind as a differential in cases of unexplained severe generalized hypotonia and severe respiratory compromise immediately after birth.
- Spinal muscular atrophy
- type 0
- hypotonia
- osteopenia
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References
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