Lege Artis Medicinae

[The significance of recognising spinal muscular atrophy]

CSÁTI Anett1, KLIVÉNYI Péter1

MAY 26, 2022

Lege Artis Medicinae - 2022;32(04-05)

DOI: https://doi.org/10.33616/lam.32.018

Review

[Spinal muscular atrophy (SMA) is a rare autosomal recessive, progressive neuromuscular disorder leading to severe proximal muscle weakness and atrophy. The spectrum of dis­ease severity ranges from early onset severe form to the slowly progressive adult-onset type. Milder and adult forms of SMA are underdiagnosed. Due to understanding the genetic background of SMA, an increasing number of disease-modifying treatment options have become available in recent years, responsible for the modification of the natural course of the disease. Updated consensus statement for standard of care is necessary. Besides the motor function alterations, health-related quality of life measurements are highlighted for estimating the impact of SMA, and the effectiveness of specific the­rapies.]

AFFILIATIONS

  1. Szegedi Tudományegyetem, Szent-Györgyi Albert Orvostudományi Kar, Szent-Györgyi Albert Klinikai Központ, Neurológiai Klinika

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