OBJECTIVE Dysferlin is a sarcolemmal protein that plays an important role in membrane repair by regulating vesicle fusion with the sarcolemma. Mutations in the dysferlin gene (DYSF) lead to multiple clinical phenotypes, including Miyoshi myopathy (MM), limb girdle muscular dystrophy type 2B (LGMD 2B), and distal myopathy with anterior tibial onset (DMAT). Patients with dysferlinopathy also show...

Polymyositis is a nonsuppurating inflammatory disease of the striated muscle characterized clinically by the presence of proximal muscular weakness that is sometimes associated with pain. 1 This disease falls within a broader category known as idiopathic inflammatory myopathy, which includes the forms of myositis that are secondary to connective tissue disease and neoplasms and myositis with in...

Inclusion body myositis is a rare, late-onset myopathy. Both inflammatory and myodegenerative features play an important role in their pathogenesis. Overlapping clinicopathological entities are the familial inclusion body myopathies with or without dementia. These myopathies share several clinical and pathological features with the sporadic inflammatory disease. Therefore, better understanding ...

Vitamin deficiency causes various neuropathic problems including encephalopathy, myelopathy, neuropathy, and myopathy [1]. Underlying diseases include chronic chylopoietic disease represented by chronic inflammatory intestinal disease (inflammatory bowel disease; IBD), malabsorption after abdominal surgery, and alcohol poisoning. In Japan, Europe, America, and other developed countries, there i...

The idiopathic inflammatory myopathies (IIMs) are a heterogeneous group of chronic systemic disorders characterized by muscle inflammation and progressive muscle weakness. The major clinical variants are dermatomyositis (DM) including a distinct juvenile (JDM) subtype, polymyositis (PM), and inclusion body myositis (IBM) (Engel & Hohlfeld, 2004). IBM is divided into sporadic IBM (sIBM), the mos...

Objective: To investigate the development and clinical characteristics of flail leg syndrome (FLS) improve clinicians’ recognition ability disease. \quad Method：We reviewed data, electromyography, cerebrospinal fluid test, lumbar MRI a patient diagnosed with syndrome(FLS) in seventh Affiliated Hospital Sun Yat-sen University. Results: Clinical symptoms limited both lower limbs, including asymme...

Skeletal or voluntary muscles represent, in the aggregate, approximately 40 to 45% of the weight of our body. Regarding the prominence and visibility of muscle function, disorders of voluntary muscles would be immediately apparent. However, disorders of the muscular system, the myopathies, in some cases, may go undiagnosed for long periods. Even when myopathy is considered and a diagnosis is ma...