Inclusion body myositis (IBM): genetic variants

Familial IBM

• This has a similar phenotype to sporadic IBM
• There is weakness of quadriceps and finger flexors
• The histology is typical of IBM
• There is a strong association with HLA-DRB1
• There is a good response to immunosuppression: unlike in sporadic IBM

Hereditary (hIBM)

Quadriceps sparing IBM

Other genetic associations

Acronym

References

1. Ranque-Francois N, Maisonabe T, Dion E, et al. Familial inflammatory inclusion body myositis. Ann Rheum Dis 2005; 64:634-637.
2. Orsini M, Mello MP, de Freitas MRG, Nascimento OJM. Familial inclusion body myositis (FIBM): update. Rev Neuroscience 2009; 17:193-195.
3. Mastaglia FL, Needham M, Scott A, et al. Sporadic inclusion body myositis: HLA-DRB1 allele interactions influence disease risk and clinical phenotype. Neuromuscul Disord 2009; 19:763-765.
4. Martinsson T, Darin N, Kyllerman M, Oldfors A, Hallberg B, Wahlstrom J. Dominant hereditary inclusion-body myopathy gene (IBM3) maps to chromosome region 17p13.1. Am J Hum Genet 1999; 64:1420-1426.
5. Ju JS, Weihl CC. Inclusion body myopathy, Paget's disease of the bone and fronto-temporal dementia: a disorder of autophagy. Hum Mol Genet 2010; 19 (R1):R38-R45.
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Related checklists

• Inclusion body myositis (IBM): clinical features
• Inclusion body myositis (IBM): differential diagnosis
• Inclusion body myositis (IBM): investigations
• Inclusion body myositis (IBM): treatment