Spinalna mišićna atrofija

Spinal muscular atrophy (SMA) is autosomal recessive disorder characterized by degeneration of spinal cord motor neurons, atrophy of skeletal muscles and generalised weakness. With incidence estimated between 1/6000 and 1/11000, it is the leading genetic cause of infant mortality. Disease is caused by deleterious mutations of SMNl gene, and subsequently decreased levels of SMN protein. Based on the age at onset of symptoms and achieved motor milestone, patients are classified into one of five phenotypic classes (SMA O, SMA I, SMA II, SMA III, SMA IV). Cornerstone of modem diagnosis is genetic screening for homozygous deletion or mutation of the SMNl gene. Until recently, SMA therapy was mainly supportive and despite huge advances in medical technology and patient care, natural history of the disease was barely affected. Twenty years after the discovery of the SMNl gene and its role in SMA, a major step forward was made by approving the first drug for SMA, antisense oligonucleotide, nusinersen. However, despite great enthusiasm within SMA community, following approval, nusinersen has at the same time created many ethical, medical and financial challenges. Many of which are also reflected upon the recently approved gene therapy for SMA