Inclusion body myositis: from genetics to clinical trials

Abstract

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.

Impaired health-related quality of life in idiopathic inflammatory myopathies: a cross-sectional analysis from the COVAD-2 e-survey

“…Among IIM patients, physical function and QoL were most significantly affected in IBM, which is also consistent with previous studies [ 21 , 22 ]. The significantly impaired physical health of IBM patients likely reflects the treatment-refractory nature of the disease and the accumulation of muscle damage [ 23 , 24 ]. Comorbidities including asthma, cardiovascular disease, hypertension and depression were also identified as factors associated with lower PROMIS GPH scores.…”

Sporadic Inclusion Body Myositis at the Crossroads between Muscle Degeneration, Inflammation, and Aging

“…Sporadic inclusion body myositis (sIBM) is a chronic progressive muscle disease that primarily affects people 50 years and older [ 1 , 2 ]. It is the most common acquired myopathy in the elderly, with a prevalence ranging between 5 and 180 per million, depending on the geographical area [ 3 , 4 , 5 , 6 ]. sIBM is more common in males than females (2:1) and is associated with higher morbidity and mortality [ 5 , 6 ].…”

“…It is the most common acquired myopathy in the elderly, with a prevalence ranging between 5 and 180 per million, depending on the geographical area [ 3 , 4 , 5 , 6 ]. sIBM is more common in males than females (2:1) and is associated with higher morbidity and mortality [ 5 , 6 ]. The disease presents with muscle weakness mainly affecting the quadriceps and finger flexors [ 6 ].…”

“…sIBM is more common in males than females (2:1) and is associated with higher morbidity and mortality [ 5 , 6 ]. The disease presents with muscle weakness mainly affecting the quadriceps and finger flexors [ 6 ]. At present, there are no disease-modifying therapies for this progressive disease that eventually leads to severe disability [ 7 ].…”

“…At present, there are no disease-modifying therapies for this progressive disease that eventually leads to severe disability [ 7 ]. Despite common clinical characteristics, the phenotype can be variable, and the diagnosis relies on the combination of clinical evaluation, laboratory tests, and pathologic changes in muscle biopsy [ 6 ]. Histological hallmarks include both degenerative features such as protein aggregation in myofibers and autoimmune aspects such as endomysial infiltration by T cells [ 8 , 9 ].…”