Type 0 Spinal Muscular Atrophy in rare association with congenital contracture and generalized osteopenia: A Case Report

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.

[thumbnail of 12023-Article Text (Word file)-74919-1-10-20171220.pdf] Text
12023-Article Text (Word file)-74919-1-10-20171220.pdf - Published Version

Download (382kB)

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
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

Actions (login required)

View Item
View Item