Neurol. praxi. 2016;17(6):349-353 | DOI: 10.36290/neu.2016.073

Spinal muscular atrophy - diagnostics, therapy, research

MUDr. Jana Haberlová, Ph.D.¹, MUDr. Alžběta Slabá¹, RNDr. Petra Hedvičáková², MUDr. Tereza Doušová³

¹ Klinika dětské neurologie 2. LF UK a FN Motol, Praha

² Ústav biologie a lékařské genetiky 2. LF UK a FN Motol, Praha

³ Pediatrická klinika 2. LF UK a FN Motol, Praha

Spinal muscular atrophy is a group of hereditary disorders caused by degeneration of alpha motor neurons in anterior horn cells. Clinically, they show as progressive, mostly as proximal muscle weakness. Although 95 % of cases are autosomal recessive forms caused by mutations in SMN1 gene, it is a heterogeneous group of disorders. Due to incidence 1: 6 000–10 000, they are rare diseases. As for prevalence, the number of SMA patients in the Czech Republic ranges in hundreds. At present, the care for SMA patients is predominantly covered by paediatric neurologists. Thanks to better symptomatic care, the survival of most SMA patients prolongs to adulthood, including the most severe SMA forms. Causal therapy has not been possible to date; the hopes for 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: December 1, 2016  Show citation