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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2013
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| Online Access: | 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 |
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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 Health. Child health services 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 Conference or Workshop Item 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/ |
| repository_type |
Digital Repository |
| institution_category |
Local University |
| institution |
International Islamic University Malaysia |
| building |
IIUM Repository |
| collection |
Online Access |
| language |
English English |
| topic |
RD701 Orthopedics RJ101 Child Health. Child health services |
| spellingShingle |
RD701 Orthopedics RJ101 Child Health. Child health services 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 |
| 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. |
| format |
Conference or Workshop Item |
| 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 |
| title |
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_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_sort |
case of an sma child with a unique clinical and radiological manifestation |
| publishDate |
2013 |
| 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 |
| first_indexed |
2023-09-18T20:46:00Z |
| last_indexed |
2023-09-18T20:46:00Z |
| _version_ |
1777409679051194368 |