FHL1 related myopathy
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
FHL1 related myopathy. This is caused by mutations in the FHL1 gene. The transmission is X-linked. Fully referenced neurology checklist.
Genetics
- This is caused by mutations in the FHL1 gene
- The transmission is X-linked
- There are anti-FHL1 antibodies in a quarter of cases: these predict a worse outcome
- The onset age is typically in early childhood
Clinical phenotypes
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Clinical features
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Clinical features of XMPMA
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Muscle biopsy
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Muscle imaging
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Cardiac tests
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Treatment
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Acronym
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References
- Schessl J, Taratuto AL, Sewry C, et al. Clinical, histological and genetic characterization of reducing body myopathy caused by mutations in FHL1. Brain 2009; 132:452-464.
- Sarkozy A, Windpassinger C, Hudson J, et al. Phenotypic heterogeneity in British patients with a founder mutation in the FHL1 gene. Eur J Hum Genet 2011; 19:1038-1044.
- Chen DH, Raskind WH, Parson WW, et al. A novel mutation in FHL1 in a family with X-linked scapuloperoneal myopathy: phenotypic spectrum and structural study of FHL1 mutations. J Neurol Sci 2010; 296:22-29.
- Albrecht I, Wick C, Hallgren Å, et al. Development of autoantibodies against muscle-specific FHL1 in severe inflammatory myopathies. J Clin Invest 2015; 125:4612-4624.
- Malfatti E, Olivé M, Taratuto AL, et al. Skeletal muscle biopsy analysis in reducing body myopathy and other FHL1-related disorders. J Neuropathol Exp Neurol 2013; 72:833-845.
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