Type 0 Spinal Muscular Atrophy in rare association with congenital Contracture and generalized osteopenia

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 a female neonate born at the Department of Pediatrics, PGIMS, R...

Descripción completa

Detalles Bibliográficos
Autores principales: SINGH, Aditi, DALAL, Poonam, SINGH, Jasbir, TRIPATHI, Pooja
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Shahid Beheshti University of Medical Sciences 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5760681/
https://www.ncbi.nlm.nih.gov/pubmed/29379570
_version_ 1783291409671913472
author SINGH, Aditi
DALAL, Poonam
SINGH, Jasbir
TRIPATHI, Pooja
author_facet SINGH, Aditi
DALAL, Poonam
SINGH, Jasbir
TRIPATHI, Pooja
author_sort SINGH, Aditi
collection PubMed
description 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 a female neonate born at the Department of Pediatrics, PGIMS, Rohtak (Haryana) India, associated 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.
format Online
Article
Text
id pubmed-5760681
institution National Center for Biotechnology Information
language English
publishDate 2018
publisher Shahid Beheshti University of Medical Sciences
record_format MEDLINE/PubMed
spelling pubmed-57606812018-04-01 Type 0 Spinal Muscular Atrophy in rare association with congenital Contracture and generalized osteopenia SINGH, Aditi DALAL, Poonam SINGH, Jasbir TRIPATHI, Pooja Iran J Child Neurol Case Report 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 a female neonate born at the Department of Pediatrics, PGIMS, Rohtak (Haryana) India, associated 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. Shahid Beheshti University of Medical Sciences 2018 /pmc/articles/PMC5760681/ /pubmed/29379570 Text en This is an Open Access article distributed under the terms of the Creative Commons Attribution License, (http://creativecommons.org/licenses/by/3.0/) which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
SINGH, Aditi
DALAL, Poonam
SINGH, Jasbir
TRIPATHI, Pooja
Type 0 Spinal Muscular Atrophy in rare association with congenital Contracture and generalized osteopenia
title Type 0 Spinal Muscular Atrophy in rare association with congenital Contracture and generalized osteopenia
title_full Type 0 Spinal Muscular Atrophy in rare association with congenital Contracture and generalized osteopenia
title_fullStr Type 0 Spinal Muscular Atrophy in rare association with congenital Contracture and generalized osteopenia
title_full_unstemmed Type 0 Spinal Muscular Atrophy in rare association with congenital Contracture and generalized osteopenia
title_short Type 0 Spinal Muscular Atrophy in rare association with congenital Contracture and generalized osteopenia
title_sort type 0 spinal muscular atrophy in rare association with congenital contracture and generalized osteopenia
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5760681/
https://www.ncbi.nlm.nih.gov/pubmed/29379570
work_keys_str_mv AT singhaditi type0spinalmuscularatrophyinrareassociationwithcongenitalcontractureandgeneralizedosteopenia
AT dalalpoonam type0spinalmuscularatrophyinrareassociationwithcongenitalcontractureandgeneralizedosteopenia
AT singhjasbir type0spinalmuscularatrophyinrareassociationwithcongenitalcontractureandgeneralizedosteopenia
AT tripathipooja type0spinalmuscularatrophyinrareassociationwithcongenitalcontractureandgeneralizedosteopenia

Ejemplares similares