A case of an SMA child with a unique clinical and radiological manifestation

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.

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Abstract

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.

Item Type:	Conference or Workshop Item (Full Paper)
Additional Information:	5755/31839
Uncontrolled Keywords:	Spinal muscular atrophy (SMA), child, radiology
Subjects:	R Medicine > RD Surgery > RD701 Orthopedics R Medicine > RJ Pediatrics > RJ101 Child Heatlh. Child health services. Preventive health services for children
Kulliyyahs/Centres/Divisions/Institutes (Can select more than one option. Press CONTROL button):	Kulliyyah of Medicine > Department of Paediatrics Kulliyyah of Medicine > Department of Department of Orthopaedics, Traumatology & Rehabilitation Kulliyyah of Medicine > Department of Radiology
Depositing User:	DR MOHD ARIFF SHARIFUDIN
Date Deposited:	19 Sep 2013 14:18
Last Modified:	19 Sep 2013 14:19
URI:	http://irep.iium.edu.my/id/eprint/31839

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