Spinal muscular atrophy of childhood at the edge of the centuries.
نویسندگان
چکیده
The term spinal muscular atrophy embraces a heterogeneous group of hereditary neuromuscular disorders caused by the loss of the lower motoneurones, leading to progressive muscle weakness and atrophy. The most common of these disorders is infantile and juvenile proximal spinal muscular atrophy (SMA), which has an incidence of 1/10,000 newborns and a carrier frequency of 1/50 individuals (1,2). Spinal muscular atrophy is the second most common fatal autosomal recessive disorder of children after cystic fibrosis. The disease is usually subdivided into three forms 1, 2 and 3 on the basis of age at onset and achieved milestones (3). Before the era of molecular genetics, the diagnosis of SMA was based on clinical features, muscle biopsy and electrophysiological findings (4). In 1990, all three forms of SMA were mapped to band q 11.2-13.3 of chromosome 5, suggesting that they are allelic disorders (5,6). The next step was the identification of an SMA determining gene – SMN (survival of motor neuro n e ) gene – existing in two copies (telomeric and centromeric) (7,8). About 95% of SMA patients show homozygous absence (deletion or gene conversion) of exon 7 or 7 and 8 of telomeric copies of the S M N
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ورودعنوان ژورنال:
- Functional neurology
دوره 16 4 Suppl شماره
صفحات -
تاریخ انتشار 2001