Abstract

Spinal Muscular Atrophy (SMA) is a genetic disease. Caused by deletion or mutation of SMN1, it is an autosomal recessive motor neuron disease. This disease is characterized by generalized muscle weakness and atrophy predominating in proximal limb muscles. Based on age of onset, it’s phenotype is classified into four grades of severity (SMA I, SMAII, SMAIII, SMA IV). This disease is caused by homozygous mutations of the motor neuron 1 (SMN1) gene, and the diagnostic test demonstrates in most patients the homozygous deletion of the SMN1 gene. Individuals at risk should be tested first and, in case of testing positive, the partner should be then analysed. The management of SMA should properly be followed-up coordination by an expert who is able to plan a multidisciplinary intervention that includes pulmonary, gastroenterology/nutrition, and orthopedic care is recommended. An effort has been made to focus on the diagnosis procedures followed by different effective management alternatives for SMA in the present review.

Keywords: Spinal Muscular Atrophy (SMA); Zolgensma; Genetic disorder; Gene therapy

Abbreviations: FDA: Food and Drug Administration; SMA: Spinal Muscular Atrophy; SMN: Survival Motor Neuron