Singh, Aditi and Dalal, Poonam and Singh, Jasbir and Tripathi, Pooja (2018) Type 0 Spinal Muscular Atrophy in rare association with congenital contracture and generalized osteopenia: A Case Report. Iranian Journal of Child Neurology, 12 (1). pp. 105-108.
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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.
Item Type: | Article |
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Subjects: | Science Global Plos > Medical Science |
Depositing User: | Unnamed user with email support@science.globalplos.com |
Date Deposited: | 10 Apr 2023 10:01 |
Last Modified: | 08 Mar 2024 04:32 |
URI: | http://ebooks.manu2sent.com/id/eprint/516 |