Dysferlinopathy: Spectrum of pathological changes in skeletal muscle tissue

Gayathri, Narayanappa; Alefia, R; Nalini, A; Yasha, T C; Anita, M.; Santosh, Vani; Shankar, S K

doi:10.4103/0377-4929.81636

Cited by 29 publications

(23 citation statements)

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“…While biopsy typically reveals nonspecific myopathic changes (e.g., a necrotizing myopathy), up to one third demonstrate a marked inflammatory infiltrate [47]. Both T cells and macrophages may predominate [45,47,48]. This can lead to an erroneous diagnosis of PM, especially given the pronounced CK elevation and proximal weakness seen in LGMD 2B patients.…”

Section: Dysferlinopathymentioning

confidence: 91%

Myositis Mimics

Michelle

Mammen

2015

Curr Rheumatol Rep

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Patients with autoimmune myositis typically present with muscle weakness, elevated serum levels of muscle enzymes, and abnormal muscle biopsies. However, patients with other acquired myopathies or genetic muscle diseases may have remarkably similar presentations. Making the correct diagnosis of another muscle disease can prevent these patients from being exposed to the risks of immunosuppressive medications, which benefit those with myositis, but not those with other types of muscle disease. Here, we review some of the most common acquired and inherited muscle diseases that can mimic autoimmune myositis, including inclusion body myositis, limb girdle muscular dystrophies, metabolic myopathies, mitochondrial myopathies, and endocrine myopathies. We emphasize aspects of the medical history, physical exam, laboratory evaluation, and muscle biopsy analysis that can help clinicians distinguish myositis mimics from true autoimmune myositis.

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Section: Dysferlinopathymentioning

confidence: 91%

Myositis Mimics

Michelle

Mammen

2015

Curr Rheumatol Rep

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“…The rate of progression of this disease is highly variable among patients, with no correlation between the age of onset of symptoms and the rate at which the muscles deteriorate (32,33). The SJL mouse has previously been described as having a slowly progressive muscular dystrophy by 6 months of age followed by rapid disease progression in subsequent months (16,17).…”

Section: Discussionmentioning

confidence: 99%

Assessment of disease activity in muscular dystrophies by noninvasive imaging

Maguire

Lim²,

Speedy³

et al. 2013

J. Clin. Invest.

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Muscular dystrophies are a class of disorders that cause progressive muscle wasting. A major hurdle for discovering treatments for the muscular dystrophies is a lack of reliable assays to monitor disease progression in animal models. We have developed a novel mouse model to assess disease activity noninvasively in mice with muscular dystrophies. These mice express an inducible luciferase reporter gene in muscle stem cells. In dystrophic mice, muscle stem cells activate and proliferate in response to muscle degeneration, resulting in an increase in the level of luciferase expression, which can be monitored by noninvasive, bioluminescence imaging. We applied this noninvasive imaging to assess disease activity in a mouse model of the human disease limb girdle muscular dystrophy 2B (LGMD2B), caused by a mutation in the dysferlin gene. We monitored the natural history and disease progression in these dysferlin-deficient mice up to 18 months of age and were able to detect disease activity prior to the appearance of any overt disease manifestation by histopathological analyses. Disease activity was reflected by changes in luciferase activity over time, and disease burden was reflected by cumulative luciferase activity, which paralleled disease progression as determined by histopathological analysis. The ability to monitor disease activity noninvasively in mouse models of muscular dystrophy will be invaluable for the assessment of disease progression and the effectiveness of therapeutic interventions.

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“…According to the "patch hypothesis", membrane repair requires accumulation and fusion of vesicles with each other and plasma membrane at the site of disruption, wherein dysferlin also acts as a mediator in this process. Dysferlin has been shown to play roles in muscle membrane repair and muscle regeneration, both of which require vesicle-membrane fusion (9,13). Ultrastructural evidence suggests that membrane repair mechanism is affected by dysferlin deficiency resulting in muscle fiber damage, even though vesicle formation is determined (9,13).…”

Section: Discussionmentioning

confidence: 97%

“…Dysferlin has been shown to play roles in muscle membrane repair and muscle regeneration, both of which require vesicle-membrane fusion (9,13). Ultrastructural evidence suggests that membrane repair mechanism is affected by dysferlin deficiency resulting in muscle fiber damage, even though vesicle formation is determined (9,13). However, the mechanism by which muscle becomes dystrophic in these disorders remains poorly understood (1)(2)(3)(4)(5)(6)(7)(8)(9)(10)(11)(12)(13).…”

Section: Discussionmentioning

confidence: 98%