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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 ...
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 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]
Harper–Young myopathy; 158580: SLC5A7: 2q12.3: Autosomal dominant: Adult-onset with vocal cord paralysis, very rare Congenital distal spinal muscular atrophy. Distal hereditary motor neuronopathy type 8 (DHMN8) 600175: TRPV4: 12q24.11: Autosomal dominant: Affects primarily distal muscles of lower limbs, non-progressive, rare, allelic with ...
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 ...
Between 33-51.4% develop fixed muscle weakness, typically of the trunk and upper body, with the onset of muscle weakness usually occurring later in life (40+ years of age). [ 25 ] [ 24 ] Younger people may display unusual symptoms, such as difficulty chewing, swallowing, or utilizing normal oral motor functions. [ 26 ]
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.
The phenotypic presentation has 3 forms: a neonatal-onset form with congenital anomalies (type I), a neonatal-onset form without congenital anomalies (type II), and a late-onset form (type III). [3] Individuals with glutaric acidemia type 2 frequently experience exercise-induced muscle fatigue, hypotonia, myalgia, and proximal muscle weakness. [4]