sma[脊髓性肌肉萎縮症]

脊髓性肌肉萎縮症(英語:Spinal muscular atrophy,簡寫為SMA),是一種遺傳性神經疾病。它會造成運動神經元退化、肌肉萎縮,肌肉無力,最終造成死亡。 控制肌肉的運動神經里的某種蛋白質(運動神經元存活因子,SMN)出了問題,使得神經訊號的傳遞受到阻礙,造成肌肉的收縮失常。控制這種蛋白質形成的基因,稱為SMN1,當這種基因出現問題時,就會產生這種疾病。

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
ICD - 10 G12.0-G12.1
ICD - 9-CM 335.0-335.1
OMIM 253300 253550 253400 271150
DiseasesDB 14093 32911
MedlinePlus 000996
eMedicine Spinal Muscular Atrophy Spinal Muscle Atrophy Kugelberg–Welander SMA
Patient UK Spinal muscular atrophy
MeSH D014897
GeneReviews
  • Spinal Muscular Atrophy
[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.

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