Neurol. praxi. 2022;23(1):14-17 | DOI: 10.36290/neu.2021.074

Congenital non-5q spinal muscular atrophy in children

MUDr. Eva Trúsiková, MUDr. Katarína Okáľová, PhD., prof. MUDr. Karol Králinský, PhD.

II. detská klinika SZU, Detská fakultná nemocnica s poliklinikou Banská Bystrica

Spinal muscular atrophies (SMAs) are genetic disorders that are clinically characterized by progressive muscle weakness and atrophy due to degeneration of the anterior horn cells. Initially, the disease was considered a purely autosomal recessive condition caused by mutations in the SMN1 gene on chromosome 5q13. However, recent developments in next-generation sequencing technologies have revealed a growing number of clinical conditions referred to as non-5q forms of spinal muscular atrophy. Although non-5q forms of SMA are very rare, they are clinically and genetically very heterogeneous diseases.

Keywords: spinal muscular atrophy, non-5q spinal muscular atrophy.

Received: September 13, 2021; Revised: September 30, 2021; Accepted: October 4, 2021; Prepublished online: October 4, 2021; Published: March 14, 2022  Show citation