Congenital myopathy in adults
Evidence-based neurology checklist on congenital myopathy in adults: 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 Rarer causative genetic mutations Neurological features of…
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
Rarer causative genetic mutations
Neurological features of adult onset cases
Skeletal features of adult onset cases
Other features of adult onset
Differential diagnosis
Muscle biopsy features
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.
