AI Article Synopsis
- - Spinal muscular atrophy (SMA) is a genetic disorder that leads to muscle weakness due to the degeneration of nerve cells in the spinal cord, specifically affecting the anterior horn cells.
- - SMA is categorized into three types: I and II (Werdnig-Hoffmann disease) and III (Kugelberg-Welander disease), with an incidence rate of about 1 in 10,000 births.
- - The report discusses two infant cases diagnosed with SMA; one was identified through muscle biopsy, while the other was diagnosed using electromyography and chromosome studies, emphasizing the importance for physicians to be aware of SMA and its complications.
Article Abstract
Spinal muscular atrophy (SMA) is an autonomic recessive disorder that affects the anterior horn cells of the spinal cord, degeneration of which results in proximal muscle weakness. It is classified into three types: I and II (Werdnig-Hoffmann disease) and III (Kugelberg-Welander disease). With an incidence of 1/10,000. We report two cases of infants with hypotonic syndrome, that were diagnose with SMA, in the first case by muscular biopsy, and in the second by electromyography and chromosomes study. It is import that the physicians know about this disease, and its complications.
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