Clinical research advance of therapeutic strategies for spinal muscular atrophy

Abstract

Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease characterized by progressive muscular weakness and atrophy caused by degeneration of brain stem and spinal cord motor neurons. SMA is common genetic neuromuscular disorder that causes infant death. The pathogenesis is survival motor neuron (SMN) protein deletion caused by homozygous disruption of SMN1 gene. Greater knowledge of the molecular basis of SMA pathogenesis has fuelled the development of potential therapeutic approaches, reduced mortality and improved the life quality of SMA patients. The therapeutic strategies include a modified antisense oligonucleotide (ASO), adeno-associated virus (AAV) mediated SMN1 gene replacement therapy, oral small molecular drugs which upregulated SMN protein expression, muscle activating drugs, and neuroprotective drugs, etc.

DOI: 10.3969/j.issn.1672-6731.2019.06.003