FHL1 related myopathy

Evidence-based neurology checklist on fhl1 related myopathy: 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…

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

Clinical features

Clinical features of XMPMA

Muscle biopsy

Muscle imaging

Cardiac tests

Treatment

Acronym

References

  1. 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. 
  2. 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. 
  3. 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.
  4. 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. 
  5. 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.
  6. And 6 more. Subscribe to see the full list

Related checklists

Loading...