| Test: |
Spinal Muscular Atrophy (SMA) |
| Alternate names: |
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| Description: |
Spinal muscular atrophies (SMAs) are characterized by progressive limb and trunk paralysis associated with muscular atrophy resulting from the degeneration of the anterior horn cells of the spinal cord. SMAs constitute the second most common autosomal recessive disorder next to cystic fibrosis with an incidence of 1 in 6000 newborns. Childhood SMA is subdivided into three groups based on age of onset and clinical course. The acute form is characterized by severe generalized muscle weakness and hypotonia at birth or within 3 months of age followed by death within 2 years (Type I-Werdnig-Hoffman disease). The intermediate and juvenile forms (type II and type III) exhibit later age of onset and longer survival (symptomatic after 2 years of age and survival beyond 4 years of age). Homozygous deletion of sequences within the SMN (survival motor neuron) gene on chromosome 5q has been found for all three forms of SMAs. Homozygous deletion of exon 7 or both exons 7 and 8 of SMN has been found in 96% of type I, 94% of type II and 82% of type III SMA patients.
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| Clinical: |
Spinal Muscular Atrophy (SMA) |
| Methodology: |
mutation detection |
| Turn around time: |
1 month |
| Transit stability: |
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| Comments: |
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| Sample: |
Blood EDTA 2 ml, dried blood spots or buccal swabs |
| Type: |
Genetics |
| Method: |
Point mutation analysis |
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| Consultant/scientist: |
Ms Surita Meldau |
| Tel: |
021 404 4449 |
| email: |
surita.meldau@nhls.ac.za |
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|
| Contact for results: |
Ms Surita Meldau |
| Tel: |
021 404 4449 |
| email: |
surita.meldau@uct.ac.za |
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| Delivery address |
C17 NHLS Labs, NGSH, Observatory, 7925 |
| for samples: |
Cape Town |
