A case of an SMA child with a unique clinical and radiological manifestation
Spinal muscular atrophy (SMA) is an autosomal recessive disorder with variable clinical severity. It causes degeneration of the anterior horn cells of the spinal cord resulting in progressive muscle weakness. The widely used classification is based on the age of onset and severity of the manifestati...
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| Format: | Proceeding Paper |
| Language: | English English |
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2013
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| Online Access: | http://irep.iium.edu.my/31839/ http://irep.iium.edu.my/31839/1/APOA_2013_-_Spinal_Muscular_Atrophy_%28SMA%29_-_Dr_Mai.pdf http://irep.iium.edu.my/31839/16/A_case_of_an_SMA_child_with_a_unique_clinical_and_radiological_manifestation.pdf |
| _version_ | 1848780460498354176 |
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| author | Taib, Mai Nurul Ashikin Sivapunniam, Selva Kumar Sharifudin, Mohd Ariff Abdul Aziz, Azian |
| author_facet | Taib, Mai Nurul Ashikin Sivapunniam, Selva Kumar Sharifudin, Mohd Ariff Abdul Aziz, Azian |
| author_sort | Taib, Mai Nurul Ashikin |
| building | IIUM Repository |
| collection | Online Access |
| description | Spinal muscular atrophy (SMA) is an autosomal recessive disorder with variable clinical severity. It causes degeneration of the anterior horn cells of the spinal cord resulting in progressive muscle weakness. The widely used classification is based on the age of onset and severity of the manifestation. Orthopaedists will see such cases from time to time, mostly referrals for spinal deformity and weakness. We report a case of a 7-year old boy presented with developmental delay and progressive weakness of all four limbs. By the age of 7, he is already crippled and wheelchair bound. Based on the age of onset, a diagnosis of SMA type II was made. However, the profound weakness and severity of the manifestation were not normally seen in a SMA type II. MRI findings of blunted conus medullaris and dysplastic sacral vertebrae were also not consistent with the diagnosis. Details of the radiological findings are described. The orthopaedic aspects of SMA, rehabilitation in particular, are further discussed. |
| first_indexed | 2025-11-14T15:34:01Z |
| format | Proceeding Paper |
| id | iium-31839 |
| institution | International Islamic University Malaysia |
| institution_category | Local University |
| language | English English |
| last_indexed | 2025-11-14T15:34:01Z |
| publishDate | 2013 |
| recordtype | eprints |
| repository_type | Digital Repository |
| spelling | iium-318392013-09-19T06:19:08Z http://irep.iium.edu.my/31839/ A case of an SMA child with a unique clinical and radiological manifestation Taib, Mai Nurul Ashikin Sivapunniam, Selva Kumar Sharifudin, Mohd Ariff Abdul Aziz, Azian RD701 Orthopedics RJ101 Child Heatlh. Child health services. Preventive health services for children Spinal muscular atrophy (SMA) is an autosomal recessive disorder with variable clinical severity. It causes degeneration of the anterior horn cells of the spinal cord resulting in progressive muscle weakness. The widely used classification is based on the age of onset and severity of the manifestation. Orthopaedists will see such cases from time to time, mostly referrals for spinal deformity and weakness. We report a case of a 7-year old boy presented with developmental delay and progressive weakness of all four limbs. By the age of 7, he is already crippled and wheelchair bound. Based on the age of onset, a diagnosis of SMA type II was made. However, the profound weakness and severity of the manifestation were not normally seen in a SMA type II. MRI findings of blunted conus medullaris and dysplastic sacral vertebrae were also not consistent with the diagnosis. Details of the radiological findings are described. The orthopaedic aspects of SMA, rehabilitation in particular, are further discussed. 2013-08-29 Proceeding Paper PeerReviewed application/pdf en http://irep.iium.edu.my/31839/1/APOA_2013_-_Spinal_Muscular_Atrophy_%28SMA%29_-_Dr_Mai.pdf application/pdf en http://irep.iium.edu.my/31839/16/A_case_of_an_SMA_child_with_a_unique_clinical_and_radiological_manifestation.pdf Taib, Mai Nurul Ashikin and Sivapunniam, Selva Kumar and Sharifudin, Mohd Ariff and Abdul Aziz, Azian (2013) A case of an SMA child with a unique clinical and radiological manifestation. In: 9th APOA Paediatric Section Congress, 29-31 Aug 2013, Pullman Kuching, Sarawak, Malaysia. http://www.apoa2013.org/ |
| spellingShingle | RD701 Orthopedics RJ101 Child Heatlh. Child health services. Preventive health services for children Taib, Mai Nurul Ashikin Sivapunniam, Selva Kumar Sharifudin, Mohd Ariff Abdul Aziz, Azian A case of an SMA child with a unique clinical and radiological manifestation |
| title | A case of an SMA child with a unique clinical and radiological manifestation |
| title_full | A case of an SMA child with a unique clinical and radiological manifestation |
| title_fullStr | A case of an SMA child with a unique clinical and radiological manifestation |
| title_full_unstemmed | A case of an SMA child with a unique clinical and radiological manifestation |
| title_short | A case of an SMA child with a unique clinical and radiological manifestation |
| title_sort | case of an sma child with a unique clinical and radiological manifestation |
| topic | RD701 Orthopedics RJ101 Child Heatlh. Child health services. Preventive health services for children |
| url | http://irep.iium.edu.my/31839/ http://irep.iium.edu.my/31839/ http://irep.iium.edu.my/31839/1/APOA_2013_-_Spinal_Muscular_Atrophy_%28SMA%29_-_Dr_Mai.pdf http://irep.iium.edu.my/31839/16/A_case_of_an_SMA_child_with_a_unique_clinical_and_radiological_manifestation.pdf |