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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.
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 ...
Muscle weakness is a lack of muscle strength. Its causes are many and can be divided into conditions that have either true or perceived muscle weakness. True muscle weakness is a primary symptom of a variety of skeletal muscle diseases, including muscular dystrophy and inflammatory myopathy.
Distal muscles in hands, forearms and lower legs Progress is slow and not life-threatening. [17] 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 ...
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 ...
Distal axonopathy, is the result of interrupted function of the peripheral nerves. [9] It is the most common response of neurons to metabolic or toxic disturbances, and may be caused by metabolic diseases such as diabetes , kidney failure , connective tissue disease , deficiency syndromes such as malnutrition and alcoholism , or the effects of ...
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 ...
Myosin myopathies and Laing distal myopathy (gene MYH7) Laing distal myopathy (Myopathy, distal, 1; MPD1) Calf muscle [93] [94] Variable. Typically childhood-onset Wide phenotypic variability. Typically hypertrophic calf muscles, atrophy of anterior compartment tibial muscles, predominance of type I fibres and numerous small type I fibres.
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