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A case of spinal muscular atrophy type 2 in a child: a genetic condition rarely detected in primary care / Siti Mariam Abu Hussain ... [et al.]

Spinal muscular atrophy (SMA) is a neurodegenerative disease affecting 4 out of 10,000 live births. It is an autosomal recessive genetic condition caused by mutations of the survival motor neuron gene 1 (SMN1), located at chromosome 5q. There are five types of SMA, from Type 0 to Type 4. Depending o...

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Main Authors: Abu Hussain, Siti Mariam, Shibraumalisi, Nur Amirah, Miptah, Hayatul Najaa, Ramli, Anis Safura
Format: Article
Language:English
Published: Faculty of Medicine 2024
Subjects:
RC Internal Medicine
Online Access:https://ir.uitm.edu.my/id/eprint/91709/1/91709.pdf
https://ir.uitm.edu.my/id/eprint/91709/
http://jchs-medicine.uitm.edu.my/
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spelling my.uitm.ir.917092024-03-05T02:40:09Z https://ir.uitm.edu.my/id/eprint/91709/ A case of spinal muscular atrophy type 2 in a child: a genetic condition rarely detected in primary care / Siti Mariam Abu Hussain ... [et al.] jchs Abu Hussain, Siti Mariam Shibraumalisi, Nur Amirah Miptah, Hayatul Najaa Ramli, Anis Safura RC Internal Medicine Spinal muscular atrophy (SMA) is a neurodegenerative disease affecting 4 out of 10,000 live births. It is an autosomal recessive genetic condition caused by mutations of the survival motor neuron gene 1 (SMN1), located at chromosome 5q. There are five types of SMA, from Type 0 to Type 4. Depending on the types, SMA can cause severe disability and death. This case report presents a case of a six-month old baby boy with gross motor developmental regression. There was a missed opportunity to detect this case in primary care. The baby was referred by a private paediatrician to a government hospital’s outpatient paediatric clinic for losing his ability to roll over, lift his buttocks, and sit without support. Genetic testing confirmed the diagnosis of SMA Type 2. Receiving the diagnosis and caring for a child with SMA is a lifechanging event for the parents and caregivers. The availability of gene therapy may change the prognosis and outcome of patients with SMA and should be offered if available. This case highlights the impact of the child’s illness on the family and the importance of a multidisciplinary team approach in managing SMA. Primary care physicians play a key role in conducting thorough child health surveillance to ensure early identification and providing support to the child and the parents holistically as the disease progresses into adulthood. This includes providing long-term psychosocial support to improve their quality of life. Faculty of Medicine 2024-03 Article PeerReviewed text en https://ir.uitm.edu.my/id/eprint/91709/1/91709.pdf A case of spinal muscular atrophy type 2 in a child: a genetic condition rarely detected in primary care / Siti Mariam Abu Hussain ... [et al.]. (2024) Journal of Clinical and Health Sciences (JCHS) <https://ir.uitm.edu.my/view/publication/Journal_of_Clinical_and_Health_Sciences_=28JCHS=29/>, 9 (1). pp. 55-60. ISSN 0127-984X http://jchs-medicine.uitm.edu.my/
institution Universiti Teknologi Mara
building Tun Abdul Razak Library
collection Institutional Repository
continent Asia
country Malaysia
content_provider Universiti Teknologi Mara
content_source UiTM Institutional Repository
url_provider http://ir.uitm.edu.my/
language English
topic RC Internal Medicine
spellingShingle RC Internal Medicine
Abu Hussain, Siti Mariam
Shibraumalisi, Nur Amirah
Miptah, Hayatul Najaa
Ramli, Anis Safura
A case of spinal muscular atrophy type 2 in a child: a genetic condition rarely detected in primary care / Siti Mariam Abu Hussain ... [et al.]
description Spinal muscular atrophy (SMA) is a neurodegenerative disease affecting 4 out of 10,000 live births. It is an autosomal recessive genetic condition caused by mutations of the survival motor neuron gene 1 (SMN1), located at chromosome 5q. There are five types of SMA, from Type 0 to Type 4. Depending on the types, SMA can cause severe disability and death. This case report presents a case of a six-month old baby boy with gross motor developmental regression. There was a missed opportunity to detect this case in primary care. The baby was referred by a private paediatrician to a government hospital’s outpatient paediatric clinic for losing his ability to roll over, lift his buttocks, and sit without support. Genetic testing confirmed the diagnosis of SMA Type 2. Receiving the diagnosis and caring for a child with SMA is a lifechanging event for the parents and caregivers. The availability of gene therapy may change the prognosis and outcome of patients with SMA and should be offered if available. This case highlights the impact of the child’s illness on the family and the importance of a multidisciplinary team approach in managing SMA. Primary care physicians play a key role in conducting thorough child health surveillance to ensure early identification and providing support to the child and the parents holistically as the disease progresses into adulthood. This includes providing long-term psychosocial support to improve their quality of life.
format Article
author Abu Hussain, Siti Mariam
Shibraumalisi, Nur Amirah
Miptah, Hayatul Najaa
Ramli, Anis Safura
author_facet Abu Hussain, Siti Mariam
Shibraumalisi, Nur Amirah
Miptah, Hayatul Najaa
Ramli, Anis Safura
author_sort Abu Hussain, Siti Mariam
title A case of spinal muscular atrophy type 2 in a child: a genetic condition rarely detected in primary care / Siti Mariam Abu Hussain ... [et al.]
title_short A case of spinal muscular atrophy type 2 in a child: a genetic condition rarely detected in primary care / Siti Mariam Abu Hussain ... [et al.]
title_full A case of spinal muscular atrophy type 2 in a child: a genetic condition rarely detected in primary care / Siti Mariam Abu Hussain ... [et al.]
title_fullStr A case of spinal muscular atrophy type 2 in a child: a genetic condition rarely detected in primary care / Siti Mariam Abu Hussain ... [et al.]
title_full_unstemmed A case of spinal muscular atrophy type 2 in a child: a genetic condition rarely detected in primary care / Siti Mariam Abu Hussain ... [et al.]
title_sort case of spinal muscular atrophy type 2 in a child: a genetic condition rarely detected in primary care / siti mariam abu hussain ... [et al.]
publisher Faculty of Medicine
publishDate 2024
url https://ir.uitm.edu.my/id/eprint/91709/1/91709.pdf
https://ir.uitm.edu.my/id/eprint/91709/
http://jchs-medicine.uitm.edu.my/
_version_ 1793161907645972480
score 13.211869

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