Spinal muscular atrophy: do we know enough about initial symptoms and importance of early diagnosis?

Abstract

The most common form of spinal muscular atrophy is an autosomal recessive disease caused by mutation in the SMN1 gene on chromosome 5, which leads to the breakdown of motor neurons in the anterior horns of the spinal cord. It belongs to the most common hereditary causes of death in early life. The disease is manifested by a spectrum of clinical presentations that are arbitrarily divided into several groups. The most important modifi ers of the severity of presentation are known, but it will be necessary to determine new ones in order to be able to more accurately predict the disease course. The modern therapeutic approach in the last few years for the fi rst time changes the natural course of the disease. Early after the onset of the disease, there is rapid deterioration of lower motor neurons. The best treatment successes are achieved by early diagnosis, preferably in the presymptomatic phase, by neonatal screening. Early diagnosis can also cause certain ethical dilemmas, but in most cases, it enables better outcome for patients with spinal muscular atrophy.