Scapuloperoneal muscular dystrophy
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Scapuloperoneal muscular dystrophy. This is caused by mutations in the desmin gene. Fully referenced neurology checklist.
Genetics
- This is caused by mutations in the desmin gene
- The transmission is autosomal dominant
- The onset is in adulthood
Clinical features
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Other phenotypes
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Associated features
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Differential diagnosis
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Muscle biopsy
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References
- Walter MC, Reilich P, Huebner A, et al. Scapuloperoneal syndrome type Kaeser and a wide phenotypic spectrum of adult-onset, dominant myopathies are associated with the desmin mutation R350P. Brain 2007; 130:1485-1496.
- Oates EC, Reddel S, Rodriguez ML, et al. Autosomal dominant congenital spinal muscular atrophy: a true form of spinal muscular atrophy caused by early loss of anterior horn cells. Brain 2012; 135:1714-1723.
- Amato AA, Russell JA. Neuromuscular Disorders. McGraw Hill New York 2008 p555.
