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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.
Welander became a professor of neurology at Umeå University from 1964–75. [1] [2] In 1951 Welander was the first to describe the hereditary muscular disease Welander's distal myopathy, a type of distal muscular dystrophy. Welander is also known for her work with Eric Kugelberg on spinal muscular atrophy (SMA).
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 ...
Mutations in the TIA1 gene have been associated with amyotrophic lateral sclerosis, frontotemporal dementia, and Welander distal myopathy. [7] [8] [9] It also plays a crucial role in the development of toxic oligomeric tau in Alzheimer's disease. [10]
Werdnig-Hoffmann disease should not be confused with Hoffmann syndrome, which is a type of adult-onset hypothyroid myopathy.) [18] The eponymous term Kugelberg–Welander disease named after Erik Klas Hendrik Kugelberg (1913–1983) and Lisa Welander (1909–2001), who first documented the late-onset form and distinguished it from muscular ...
In Japan and other East Asian countries, this disorder is known as distal myopathy with rimmed vacuoles (DMRV). IBM2 causes progressive muscle weakness and wasting. Muscle wasting usually starts around the age of 20 – 30 years, although young onset at 17 and old onset at 52 has been recorded.
Distal spinal muscular atrophy with vocal cord paralysis. Distal hereditary motor neuronopathy type 7A (DHMN7A) 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 ...
Dysferlin also known as dystrophy-associated fer-1-like protein is a protein that in humans is encoded by the DYSF gene. [5] Dysferlin is linked with plasma membrane repair., [6] stabilization of calcium signaling [7] [8] [9] and the development of the T-tubule system of the muscle [10] A defect in the DYSF gene, located on chromosome 2p12-14, results in several types of muscular dystrophy ...