AI Article Synopsis
- Spinal muscular atrophy (SMA) is a genetic disease affecting lower motor neurons, primarily impacting skeletal muscles linked to the spinal cord's anterior horn cells.
- A 10-year-old boy in Oman was diagnosed with SMA after presenting with muscle weakness in his lower limbs, confirmed by a homozygous gene deletion.
- This case marks the first recorded instance of segmental SMA affecting only the lower limbs in an Omani patient, with treatment focusing on symptom management and physiotherapy.
Article Abstract
Spinal muscular atrophy (SMA) is a genetic lower motor neuron disease. It usually involves all of the skeletal muscles innervated by the anterior horn cells of the spinal cord. In rare cases, there is also localised involvement of the spinal cord. We report a 10-year-old boy who presented to the Sultan Qaboos University Hospital, Muscat, Oman, in 2015 with muscle weakness restricted to the lower limbs. The presence of a homozygous deletion within the gene confirmed the diagnosis of SMA. To the best of the authors' knowledge, this is the first report of an Omani patient with segmental SMA involving only the lower limbs. Treatment for this rare and relatively benign form of SMA is symptomatic and includes physiotherapy.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5642370 | PMC |
| http://dx.doi.org/10.18295/squmj.2017.17.03.018 | DOI Listing |
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