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Camptocormia. A clinical photograph showing a patient with the flexed posture. It can be abated when lying down. [1] Camptocormia, also known as bent spine syndrome (BSS), is a symptom of a multitude of diseases that is most commonly seen in the elderly. It is identified by an abnormal thoracolumbar spinal flexion, which is a forward bending of ...
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 ...
Distal myopathy. Red depicts the preferentially affected areas in distal myopathy. 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. Many types involve dysferlin.
Sporadic late-onset nemaline myopathy. Other names. SLONM. 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] It was first identified in 1966 at the Mayo ...
Glycogen storage disease type V (GSD5, GSD-V), [1] also known as McArdle's disease, [2] is a metabolic disorder, one of the metabolic myopathies, more specifically a muscle glycogen storage disease, caused by a deficiency of myophosphorylase. [3][4] Its incidence is reported as one in 100,000, roughly the same as glycogen storage disease type I ...
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 ...
Rare. 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 ...
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]