Genetically Confirmed Spinal Muscular Atrophy Type 3 With Epilepsy In A Malay Patient, A Case Report
Spinal Muscular Atrophy (SMA) is an autosomal recessive disease affecting the anterior horn cells of the spinal cord. The diagnosis is usually based on the clinical presentation with or without muscle biopsy and the molecular detection of mutation in the SMNI gene. There have been a few reported cas...
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| Format: | Article |
| Language: | English |
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2003
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| Online Access: | http://eprints.usm.my/11591/1/Genetically_Confirmed_Spinal_Muscular_Atrophy_Type_3_%28PPSPergigian%29.pdf |
| _version_ | 1825828915287949312 |
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| author | Ba, Zilfalil Ms, Watihayati My, Rozainah R, Sutomo H, Nishio M, Matsuo Hussin, Zabidi |
| author_facet | Ba, Zilfalil Ms, Watihayati My, Rozainah R, Sutomo H, Nishio M, Matsuo Hussin, Zabidi |
| author_sort | Ba, Zilfalil |
| collection | USM |
| description | Spinal Muscular Atrophy (SMA) is an autosomal recessive disease affecting the anterior horn cells of the spinal cord. The diagnosis is usually based on the clinical presentation with or without muscle biopsy and the molecular detection of mutation in the SMNI gene. There have been a few reported cases of SMA with central nervous system involvement, but these were without genetic diagnoses. We report a Malay girl with genetically confirmed SMA complicated by epilepsy. She first presented with motor weakness at the age of 17 months and recurrent seizures a month later. The molecular genetic
analysis of her SMN gene showed homozygous deletion of exon 7 and 8 of the SMN1 gene. The seizure responded well to carbamazepine. To the best of our knowledge, this is the first case of genetically comfirmed Malay SMA patient with an association with epilepsy.
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| first_indexed | 2024-03-06T14:00:44Z |
| format | Article |
| id | usm.eprints-11591 |
| institution | Universiti Sains Malaysia |
| language | English |
| last_indexed | 2024-03-06T14:00:44Z |
| publishDate | 2003 |
| record_format | dspace |
| spelling | usm.eprints-115912016-12-20T13:27:43Z http://eprints.usm.my/11591/ Genetically Confirmed Spinal Muscular Atrophy Type 3 With Epilepsy In A Malay Patient, A Case Report Ba, Zilfalil Ms, Watihayati My, Rozainah R, Sutomo H, Nishio M, Matsuo Hussin, Zabidi R735-854 Medical education. Medical schools. Research Spinal Muscular Atrophy (SMA) is an autosomal recessive disease affecting the anterior horn cells of the spinal cord. The diagnosis is usually based on the clinical presentation with or without muscle biopsy and the molecular detection of mutation in the SMNI gene. There have been a few reported cases of SMA with central nervous system involvement, but these were without genetic diagnoses. We report a Malay girl with genetically confirmed SMA complicated by epilepsy. She first presented with motor weakness at the age of 17 months and recurrent seizures a month later. The molecular genetic analysis of her SMN gene showed homozygous deletion of exon 7 and 8 of the SMN1 gene. The seizure responded well to carbamazepine. To the best of our knowledge, this is the first case of genetically comfirmed Malay SMA patient with an association with epilepsy. 2003 Article PeerReviewed application/pdf en http://eprints.usm.my/11591/1/Genetically_Confirmed_Spinal_Muscular_Atrophy_Type_3_%28PPSPergigian%29.pdf Ba, Zilfalil and Ms, Watihayati and My, Rozainah and R, Sutomo and H, Nishio and M, Matsuo and Hussin, Zabidi (2003) Genetically Confirmed Spinal Muscular Atrophy Type 3 With Epilepsy In A Malay Patient, A Case Report. Neurol J Southeast Asia. pp. 113-115. |
| spellingShingle | R735-854 Medical education. Medical schools. Research Ba, Zilfalil Ms, Watihayati My, Rozainah R, Sutomo H, Nishio M, Matsuo Hussin, Zabidi Genetically Confirmed Spinal Muscular Atrophy Type 3 With Epilepsy In A Malay Patient, A Case Report |
| title | Genetically Confirmed Spinal Muscular Atrophy Type 3
With Epilepsy In A Malay Patient, A Case Report
|
| title_full | Genetically Confirmed Spinal Muscular Atrophy Type 3
With Epilepsy In A Malay Patient, A Case Report
|
| title_fullStr | Genetically Confirmed Spinal Muscular Atrophy Type 3
With Epilepsy In A Malay Patient, A Case Report
|
| title_full_unstemmed | Genetically Confirmed Spinal Muscular Atrophy Type 3
With Epilepsy In A Malay Patient, A Case Report
|
| title_short | Genetically Confirmed Spinal Muscular Atrophy Type 3
With Epilepsy In A Malay Patient, A Case Report
|
| title_sort | genetically confirmed spinal muscular atrophy type 3 with epilepsy in a malay patient a case report |
| topic | R735-854 Medical education. Medical schools. Research |
| url | http://eprints.usm.my/11591/1/Genetically_Confirmed_Spinal_Muscular_Atrophy_Type_3_%28PPSPergigian%29.pdf |
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