Congenital myopathy in adults
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Congenital myopathy in adults. The median onset age is 4 years. The median diagnosis age is 37 years. Fully referenced neurology checklist.
Demographic features
- The median onset age is 4 years
- The median diagnosis age is 37 years
- There is usually a positive family history
Frequent causative genetic mutations
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Rarer causative genetic mutations
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Neurological features of adult onset cases
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Skeletal features of adult onset cases
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Other features of adult onset
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Differential diagnosis
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Muscle biopsy features
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References
- Nicolau S, Liewluck T, Tracy JA, Laughlin RS, Milone M. Congenital myopathies in the adult neuromuscular clinic: diagnostic challenges and pitfalls. Neurol Genet 2019; 5:e341.
- Pinto MJ, Passos BA, Grangeia A, Guimarães J, Braz L. Congenital myopathies in adults: a diagnosis not to overlook. Acta Neurol Scand 2022; 146:152-159.
