4th October 2019


What is the condition SMA?

Spinal muscular atrophy (SMA) is a genetic disease affecting the part of the nervous system that controls voluntary muscle movement. Most of the nerve cells that control muscles are located in the spinal cord, which accounts for the word spinal in the name of the disease.

What is the treatment for SMA?

In December 2016, the FDA approved nusinersen (Spinraza), the first drug approved to treat children (including newborns) and adults with SMA. Nusinersen is an antisense oligonucleotide (ASO) designed to treat SMA caused by mutations in chromosome 5q that lead to SMN protein deficiency.

How SMA is inherited?

Inheritance of SMA. SMA is an autosomal recessive genetic disorder, which means an affected individual must have two defective copies of the disease causing gene. One copy of the defective gene is inherited from each parent. This scenario is illustrated here.