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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 ...
Conversely, these antibodies are absent in people who take statin medications but do not have myopathy. Thus, the presence of anti-HMG CoA reductase antibodies in someone who uses a statin and has myopathy strongly supports the diagnosis. [3] CK levels increase to 10-100 times above normal (2000–20,000 IU/L) in more than 90% of cases.
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.
Symptoms of neuromuscular disease may include numbness, paresthesia, muscle atrophy, a pseudoathletic appearance, exercise intolerance, myalgia (muscle pain), fasciculations (muscle twitches), myotonia (delayed muscle relaxation), hypotonia (lack of resistance to passive movement), fixed muscle weakness (a static symptom), or premature muscle ...
In medicine, myopathy is a disease of the muscle [1] in which the muscle fibers do not function properly. Myopathy means muscle disease ( Greek : myo- muscle + patheia -pathy : suffering ). This meaning implies that the primary defect is within the muscle, as opposed to the nerves (" neuropathies " or " neurogenic " disorders) or elsewhere (e.g ...
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]
The age of onset typically ranges from early childhood to late adulthood. [1] In addition, patients of Danon disease also experience cardiomyopathy, arrhythmia, and skeletal myopathy. [1] Men may also have varying degrees of intellectual disability with additional symptoms being retinal, liver and pulmonary disease. [1]
Hoffmann syndrome is a rare form of hypothyroid myopathy and is not to be confused with Werdnig-Hoffmann disease (a type of spinal muscular atrophy). It was first documented in 1897 by Johann Hoffmann. [1] It has adult-onset symptoms and is comparable to the childhood-onset Kocher–Debré–Semelaigne syndrome.