Spinal Muscular Atrophy: Diagnosis dan Tata Laksana

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 yang berhubungan dengan destruksi unit motorik alfa lower neuron. Gejala prognosis lebih berat jika usia onset gejala semakin dini. Sampai saat ini, sebagian besar terapi bersifat suportif. Spektrum fenotipik kompleks dapat menyebabkan gangguan fungsional serta disabilitas membutuhkan penanganan multidisiplin.
 is an inherited recessive disease caused by mutation or deletion of the gene on chromosome The incidence was estimated at live births. manifests clinically as progressive muscle weakness and decreasing tone due to destruction alpha units neurons. Clinical symptoms were worse for patients with earlier age onset. To date, definitive treatments limited, most are supportive. A complex phenotypic spectrum could lead functional impairment disability requiring multidisciplinary care.