Spinal muscular atrophy

Introduction
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By Barry S Russman MD and Erika Finanger MD

Spinal muscular atrophy is also known as or subsumes Kugelberg-Welander disease and Werdnig-Hoffman disease. -ed

Spinal muscular atrophy (SMA) presents with proximal muscle weakness of the upper and lower extremities, the latter being weaker than the former, at least initially. The condition is caused by a deletion of exon 7 on chromosome 5. Other SMAs exist that are not linked to 5Q. Current classification is based on clinical criteria, including age of onset and maximum function attained. The diagnosis is established by a DNA test for the SMN gene. Further testing, including EMG and muscle biopsy are unnecessary. To date, treatment is symptomatic. A review of newer potential therapeutic interventions in SMA is included in this updated version.

Key Points

  • Slowly progressive proximal muscle weakness starting as early as birth and as late as the teenage years, which is associated with a peculiar tremor of the fingers and is especially noted in patients older than the age of 1 year, is almost pathognomonic of spinal muscular atrophy 5q.
  • It is an autosomal recessive condition with a carrier rate of approximately 1 in 40 to 1 in 100.
  • A diagnosis can be made by genetic testing for the 5q deletion or sequence alteration.
  • There is no disease-directed therapy, but prognosis is improved by management of associated complications (including pulmonary failure, malnutrition, and scoliosis).

In This Article

Introduction
Historical note and nomenclature
Clinical manifestations
Clinical vignette
Etiology
Pathogenesis and pathophysiology
Epidemiology
Prevention
Differential diagnosis
Diagnostic workup
Prognosis and complications
Management
Pregnancy
References cited
Contributors