Abstract:Familial occurrence of inclusion body myositis is extremely rare, and only a few cases in Western countries have been reported. In these reports, a strong association of this disease with DR3 (DRB1*0301/0302) and the efficacy of immunosuppressants suggested that an immune pathomechanism is involved in the disease. We, for the first time, report two Japanese sisters who suffered myopathy clinicopathologically similar to inclusion body myositis. One sister received corticosteroid and azathioprine and the therapy… Show more
“…Apparent laterality of the muscle weakness was described in 16 cases. Family history of myopathy including familial inclusion body myopathy [7] was observed in 5 cases. Cognitive impairment was not observed in these 146 cases.Fig.…”
BackgroundSporadic inclusion body myositis (sIBM) is the most prevalent acquired muscle disease in the elderly. sIBM is an intractable and progressive disease of unknown cause and without effective treatment. The etiology of sIBM is still unknown; however, genetic factors, aging, lifestyles, and environmental factors may be involved. The purpose of this study is to elucidate the cross-sectional profile of patients affected by sIBM in Japan.MethodsWe surveyed patient data for 146 cases diagnosed at a number of centers across Japan. We also issued a questionnaire for 67 patients and direct caregivers to further elucidate the natural history of the disease.ResultsThe mean age at the onset was 63.4 ± 9.2 years. The mean length of time from the onset to diagnosis was 55.52 ± 49.72 months, suggesting that there is a difficulty in diagnosing this disease with long-term consequences because of late treatment. 73 % described the psychological/mental aspect of the disease. The most popular primary caregiver was the patient’s spouse and 57 % patients mentioned that they were having problems managing the finances.ConclusionsThrough these surveys, we described the cross-sectional profiles of sIBM in Japan. Many patients described psychological/mental and financial anxiety because of the aged profile of sIBM patients. The profiles of sIBM patients are similar to those in Western countries.
“…Apparent laterality of the muscle weakness was described in 16 cases. Family history of myopathy including familial inclusion body myopathy [7] was observed in 5 cases. Cognitive impairment was not observed in these 146 cases.Fig.…”
BackgroundSporadic inclusion body myositis (sIBM) is the most prevalent acquired muscle disease in the elderly. sIBM is an intractable and progressive disease of unknown cause and without effective treatment. The etiology of sIBM is still unknown; however, genetic factors, aging, lifestyles, and environmental factors may be involved. The purpose of this study is to elucidate the cross-sectional profile of patients affected by sIBM in Japan.MethodsWe surveyed patient data for 146 cases diagnosed at a number of centers across Japan. We also issued a questionnaire for 67 patients and direct caregivers to further elucidate the natural history of the disease.ResultsThe mean age at the onset was 63.4 ± 9.2 years. The mean length of time from the onset to diagnosis was 55.52 ± 49.72 months, suggesting that there is a difficulty in diagnosing this disease with long-term consequences because of late treatment. 73 % described the psychological/mental aspect of the disease. The most popular primary caregiver was the patient’s spouse and 57 % patients mentioned that they were having problems managing the finances.ConclusionsThrough these surveys, we described the cross-sectional profiles of sIBM in Japan. Many patients described psychological/mental and financial anxiety because of the aged profile of sIBM patients. The profiles of sIBM patients are similar to those in Western countries.
“…There are several IBM case reports of two or more affected siblings in the same family
[24-26] and one report of affected twins
[27]. Because of the clinical and histological similarities with sIBM these cases have been called familial inclusion body myositis (fIBM) .…”
Section: Muscle Disorders Similar To Sibmmentioning
confidence: 99%
“…Because of the clinical and histological similarities with sIBM these cases have been called familial inclusion body myositis (fIBM) . Human leukocyte antigen ( HLA ) class II genotypes were reported in a strong association with some families, particularly the DR3 allele ( DRB*0301/0302 ) in four western families
[24,25] and the DR15(2) / DR4 ( DRB1*1502/0405 ) in two Japanese sisters
[26]. The fIBM and sIBM share not only similar clinical, biological, MRI and histopathological features but also similar genetic markers, which indicate the possibility that the two subsets of IBM may share the same susceptibility determinants to the disease development and also highlight the genetic predisposition for sIBM pathogenesis.…”
Section: Muscle Disorders Similar To Sibmmentioning
Sporadic inclusion body myositis (sIBM) is the commonest idiopathic inflammatory muscle disease in people over 50 years old. It is characterized by slowly progressive muscle weakness and atrophy, with typical pathological changes of inflammation, degeneration and mitochondrial abnormality in affected muscle fibres. The cause(s) of sIBM are still unknown, but are considered complex, with the contribution of multiple factors such as environmental triggers, ageing and genetic susceptibility. This review summarizes the current understanding of the genetic contributions to sIBM and provides some insights for future research in this mysterious disease with the advantage of the rapid development of advanced genetic technology. An international sIBM genetic study is ongoing and whole-exome sequencing will be applied in a large cohort of sIBM patients with the aim of unravelling important genetic risk factors for sIBM.
“…Apparent laterality of the muscle weakness was described in 16 cases. Family history of myopathy including familial inclusion body myopathy [7] was observed in 5 cases. Cognitive impairment was not observed in these 146 cases.…”
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.
