Genereviews myotonic dystrophy
WebMyotonic dystrophy - About the Disease - Genetic and Rare Diseases Information Center National Center for Advancing Translational Sciences Browse by Disease About GARD … WebGeneReviews, an international point-of-care resource for busy clinicians, provides clinically relevant and medically actionable information for inherited conditions in a standardized …
Genereviews myotonic dystrophy
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WebMyotonic dystrophy type 1 (DM1) is a multisystem disorder that affects skeletal and smooth muscle as well as the eye, heart, endocrine system, and central nervous system. The clinical findings, which span a continuum from mild to severe, have been categorized into three somewhat overlapping phenotypes: mild, classic, and congenital. WebClassic DM1 is characterized by progressive muscle wasting and weakness, particularly in the lower legs, hands, neck, and face, myotonia, cataracts, GI disturbances, and cardiac conduction abnormalities. DM1 symptoms may occur at early ages and increase in severity with each succeeding generation.
WebThe National Library of Medicine (NLM), on the NIH campus in Bethesda, Maryland, is the world's largest biomedical library and the developer of electronic information services that delivers data to millions of scientists, health professionals and members of the public around the globe, every day. WebMyotonic dystrophy type 1 - About the Disease - Genetic and Rare Diseases Information Center National Center for Advancing Translational Sciences Browse by Disease About …
WebSep 26, 2024 · Myotonic dystrophy type 1 (DM1) and myotonic dystrophy type 2 (DM2) are autosomal dominant, multisystem disorders characterized by skeletal muscle … WebMyotonic dystrophy type 1 (DM1) is a multisystem disorder that affects skeletal and smooth muscle as well as the eye, heart, endocrine system, and central nervous system. …
WebThe term muscular dystrophy means progressive muscle degeneration, with increasing weakness and atrophy (loss of bulk) of muscles. In FSHD, weakness first and most seriously affects the face, shoulders, and upper arms, but the disease usually also causes weakness in other muscles.
WebLimb-girdle muscular dystrophy (LGMD) is a diverse group of disorders with many subtypes categorized by disease gene and inheritance. LGMD usually manifests in the proximal muscles around the hips and shoulders. rahnenhof carlsbergWebMyotonic dystrophy is characterized by progressive muscle wasting and weakness. People with this disorder often have prolonged muscle contractions (myotonia) and are … rahne from the new mutants movieWebBackground. Becker’s type Myotonia Congenita (BTMC) (MIM 255700) 1 is an autosomal recessive nondystrophic skeletal muscle disorder caused by mutations in the CLCN1 gene. 1 Clinically, the disease is characterized by muscle stiffness and the inability to relax after voluntary contraction. 2 The CLCN1 gene is located on chromosome 7q34 NC ... rahner hearers of the word