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Overview

Spinal muscular atrophy (SMA), also called autosomal recessive proximal spinal muscular atrophy in order to distinguish it from other conditions with similar name – is a rare neuromuscular disorder characterised by loss of motor neurons and progressive muscle wasting, often leading to early death.

The disorder is caused by a genetic defect in the SMN1 gene, which encodes SMN, a protein widely expressed in all eukaryotic cells and necessary for survival of motor neurons. Lower levels of the protein results in loss of function of neuronal cells in the anterior horn of the spinal cord and subsequent system-wide muscle wasting (atrophy).

Spinal muscular atrophy manifests in various degrees of severity, which all have in common progressive muscle wasting and mobility impairment. The severity of SMA correlates with the amount of SMN protein. People with Type 1 SMA, the most severe life-threatening form, produce very little SMN protein and do not achieve the ability to sit without support or live beyond 2 years without respiratory support. People with Type 2 and Type 3 produce greater amounts of SMN protein and have less severe, but still life-altering forms of SMA.

Spinal muscular atrophy is an inherited disorder and is passed on in an autosomal recessive manner.

As of 2016, no drugs for SMA have been approved, even as a number of therapeutics remain in late-stage clinical trials.

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