Spinal Muscular Atrophy: Diagnosis dan Tata Laksana

Abstract

Spinal muscular atrophy (SMA) adalah kelainan autosomal resesif langka akibat mutasi atau hilangnya gen survival motor neuron 1 (SMN1) pada kromosom 5q13. Insiden global SMA diperkirakan 1:11.000 kelahiran hidup. Manifestasi klinis berupa kelemahan otot progresif dan penurunan tonus otot yang berhubungan dengan destruksi unit motorik alfa lower motor neuron. Gejala klinis dan prognosis lebih berat jika usia onset gejala semakin dini. Sampai saat ini, sebagian besar terapi bersifat suportif. Spektrum fenotipik yang kompleks pada SMA dapat menyebabkan gangguan fungsional serta disabilitas yang membutuhkan penanganan multidisiplin.

Spinal muscular atrophy (SMA) is an inherited autosomal recessive disease caused by mutation or deletion of the survival motor neuron 1 gene (SMN1) on chromosome 5q13. The global incidence of SMA was estimated at 1:11.000 live births. SMA manifests clinically as progressive muscle weakness and decreasing muscle tone due to the destruction of alpha motor units on the lower motor neurons. Clinical symptoms and prognosis were worse for patients with earlier age of onset. To date, definitive treatments were limited, with most treatments are supportive. A complex phenotypic spectrum on SMA could lead to functional impairment and disability requiring multidisciplinary care.