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OrphanAnesthesia
Islander G, Hellblom A

Spinal muscular atrophy

Schlüsselwörter Spinal muscular atrophy; ICD 10: G12.0 - Infantile spinal muscle atrophy, type I, G 12.1 - Spinal muscle atrophy childhood form, type II, G12.1 - Spinal muscle atrophy juvenile form, type III; Spinal muscle atrophy type I: Werdnig-Hoffman disease, SMA I, Spinal muscle atrophy type II: Dubowitz disease, SMA II, Spinal muscle atrophy type III: Kugelberg-Welander disease SMA III
Keywords Spinal muscular atrophy; ICD 10: G12.0 - Infantile spinal muscle atrophy, type I, G 12.1 - Spinal muscle atrophy childhood form, type II, G12.1 - Spinal muscle atrophy juvenile form, type III; Spinal muscle atrophy type I: Werdnig-Hoffman disease, SMA I, Spinal muscle atrophy type II: Dubowitz disease, SMA II, Spinal muscle atrophy type III: Kugelberg-Welander disease SMA III
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Summary

Spinal muscle atrophy (SMA) is an autosomal recessive inherited disease; characterised by progressive symmetrical muscle weakness. Clinical severity in SMA ranges from the extremely severe, prenatal onset to the mildest adult onset form. Clinical classification of SMA relies on both age at onset and maximal motor ability achieved by patients.


SMA is usually divided into three types: SMA I, II, III. Sometimes two additional groups are added in the age extremes – SMA 0 and SMA IV. Patients with early onset have a rapid progression. SMA is the most common genetic cause of infant mortality.

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