Spinal muscular atrophy from the neonatologist's point of view

Česká verzia

Authors: M. Kozár ; Z. Kuderavá; M. Zibolen
Authors place of work: Neonatologická klinika, Jesseniova lekárska fakulta UK a Univerzitná nemocnica, Martin
Published in the journal: Čes-slov Neonat 2023; 29 (1): 64-68.
Category: Reviews

Summary

Spinal muscular atrophy (SMA) is a genetic and clinically heterogeneous neurodegenerative disease. In up to 95 % of cases, it is an autosomal recessive inheritable neurodegenerative disease caused by mutation of the SMN1 gene encoding a protein essential for the survival of motoneurons of the anterior horns of the spinal cord and brainstem nuclei. The disease leads to progressive muscle weakness, skeletal muscle atrophy and respiratory insufficiency, while sensory sensitivity and cognitive functions remain preserved. SMA is classified according to the age of sypmtoms onset, the highest level of achieved psychomotor development and expected life expectancy. The diagnostic standard is a molecular-genetic examination. Therapeutic options depend on the type of disease: causal treatment includes drugs that act at the genetic level and have the ability to modify the disease or slow down its progression. Support treatment is also an important part of caring for a patient with SMA. During the past year, a pilot program of newborn screening for SMA was initiated in the Czech Republic and Slovakia, the aim of which is to detect the disease at an asymptomatic stage. With early recognition and initiation of treatment, the patient's prognosis and quality of life can be significantly improved.

Keywords:

spinal muscular atrophy – hypotonic syndrome – newborn – SMA screening – SMN1 – SMN2

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