Pediatr. praxi. 2017;18(3):155-159 [Neurol. praxi. 2016;17(6):349-353]
Spinal muscular atrophy – diagnostics, therapy, research
- Klinika dětské neurologie 2. LF UK a FN Motol, Praha; 1
- Ústav biologie a lékařské genetiky 2. LF UK a FN Motol, Praha; 2
- Pediatrická klinika 2. LF UK a FN Motol, Praha; 3
Spinal muscular atrophy is a group of hereditary disorders caused by degeneration of alpha motor neurons in anterior horncells. Clinically, they show as progressive, mostly as proximal muscle weakness. Although 95 % of cases are autosomal recessiveforms caused by mutations in SMN1 gene, it is a heterogeneous group of disorders. Due to incidence 1: 6 000–10 000, they arerare diseases. As for prevalence, the number of SMA patients in the Czech Republic ranges in hundreds. At present, the care forSMA patients is predominantly covered by paediatric neurologists. Thanks to better symptomatic care, the survival of most SMApatients prolongs to adulthood, including the most severe SMA forms. Causal therapy has not been possible to date; the hopesfor future are the ongoing clinical trials with experimental therapy, especially the methods modifying splicing or gene therapy.
Keywords: proximal autosomal recessive forms of SMA, classification, pathogenesis, therapy
Published: August 1, 2017 Show citation
