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Idiopathic primary BSS is a late-onset myopathy with progressive muscular weakness that is detected on the spinal extensor muscles in elderly patients and is more predominant in females. [2] The pathogenesis of primary BSS is typically related to fibrosis and fatty infiltration of muscular tissues and to mitochondrial changes due to the aging ...
Distal muscular dystrophy, also called distal myopathy, is essentially any muscle disease that preferentially affects the hands and/or feet, a much less common pattern than proximal muscle weakness. Late adult-onset type 1; Late adult-onset type 2a; Late adult-onset type 2b; Early adult-onset type 1; Early adult-onset type 2; Early adult-onset ...
The second type is the late onset LAMA2 muscular dystrophy or late onset LAMA2-MD. The age of presentation of late onset LAMA2-MD ranges from early childhood to adulthood. It usually has a mild clinical presentation in the form of progressive spine and joint contractures, and cardiac and respiratory failure. [1]
Statin-associated autoimmune myopathy (SAAM), also known as anti-HMGCR myopathy, is a very rare form of muscle damage caused by the immune system in people who take statin medications. [1] However, there are cases of SAAM in patients who have not taken statin medication, and this can be explained by the exposure to natural sources of statin ...
Miyoshi myopathy, one of the distal muscular dystrophies, causes initial weakness in the calf muscles, and is caused by defects in the same gene responsible for one form of limb–girdle muscular dystrophy. [13] Emery–Dreifuss muscular dystrophy: Multiple Multiple XR, AD, AR: Childhood, early teenage years Distal limb muscles, limb-girdle, heart
Distal myopathy is a group of rare genetic disorders that cause muscle damage and weakness, predominantly in the hands and/or feet. Mutation of many different genes can be causative. Mutation of many different genes can be causative.
Juvenile- or adult-onset, slowly progressive, affects both proximal and distal muscles, initially manifests with calf weakness which progresses to hands Distal spinal muscular atrophy with vocal cord paralysis. Distal hereditary motor neuronopathy type 7A (DHMN7A) Harper–Young myopathy; 158580: SLC5A7: 2q12.3: Autosomal dominant
Sporadic late-onset nemaline myopathy, or SLONM, is a very rare disease, one of the nemaline myopathies, causing loss of muscle bulk and weakness in the legs but sparing the cranial nerves, and beginning its clinical course after age 40. [1]