期刊
JOURNAL OF NEUROLOGY
卷 270, 期 3, 页码 1787-1797出版社
SPRINGER HEIDELBERG
DOI: 10.1007/s00415-022-11459-3
关键词
Sporadic inclusion body myositis; Hereditary inclusion body myositis; Genetic susceptibility; Inflammation; Neurodegeneration; Clinical trials; Gene therapy
Inclusion body myositis (IBM) is a slowly progressive idiopathic inflammatory myopathy characterized by asymmetric muscle weakness primarily affecting the finger flexors and knee extensors. Limited data exists on the genetic susceptibility of sporadic IBM, despite some genes being associated with hereditary IBM.
Inclusion body myositis (IBM) belongs to the group of idiopathic inflammatory myopathies and is characterized by a slowly progressive disease course with asymmetric muscle weakness of predominantly the finger flexors and knee extensors. The disease leads to severe disability and most patients lose ambulation due to lack of curative or disease-modifying treatment options. Despite some genes reported to be associated with hereditary IBM (a distinct group of conditions), data on the genetic susceptibility of sporadic IBM are very limited. This review gives an overview of the disease and focuses on the current genetic knowledge and potential therapeutic implications.
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