This article is about a genetic disorder associated with mutation in the SMN1 gene. For a list of other conditions with similar names, see Spinal muscular atrophies.
Spinal muscular atrophy | |
Location of neurons affected by spinal muscular atrophy in the spinal cord | |
Classification and external resources | |
Specialty | Medical genetics |
G12.0-G12.1 | |
ICD-9-CM | 335.0-335.1 |
253300 253550 253400 271150 | |
DiseasesDB | 14093 32911 |
000996 | |
Spinal Muscular Atrophy Spinal Muscle Atrophy Kugelberg–Welander SMA | |
Patient UK | Spinal muscular atrophy |
D014897 | |
GeneReviews |
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[edit on Wikidata] | |
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. Proximal muscles and lung muscles are affected first. Other body systems may be affected as well, particularly in early-onset forms of the disorder. SMA is the most common genetic cause of infant death.
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.
