Webdischarges. Myotonic dystrophy and myotonia congenita share both clinical and electrodiagnostic myotonia. Paramyotonia congenita and hyperkalemic periodic paralysis are associated with clinical paramyotonia and electrical myotonia. Acid maltase deficiency often produces myotonic potentials with-out clinical evidence of myotonia or paramyotonia. Web英文糖尿病PPT课件 ... Huntington’s chorea 7. Laurence-moon-Biedl syndrome 8. Myotonic dystrophy 9. Porphyria 10. Prader-Willi syndrome 11. Others Classification (1) Type 1 diabetes β-cell destruction, usually leading to absolute deficiency <1>Immune-mediated diabetes <2>Idiopathic diabetes
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WebJun 14, 2024 · Abstract. Myotonic dystrophy is a dominantly inherited multisystem disorder that results from increased CTG repeats in the 3′ region of the myotonic dystrophy protein kinase gene (DMPK).The mutant DMPK mRNA remains in the nucleus and sequesters RNA-binding proteins, including regulators of mRNA splicing. Myotonic dystrophy is … WebMay 14, 2024 · Recognize clinical symptoms indicative of myasthenia gravis (MG) Understand the optimal workflow for diagnosis based upon clinical evaluation, detection of characteristic symptoms and physical findings, a detailed patient history, and a variety of specialized tests. Determine a disease management plan based on knowledge of … how to turn on samsung galaxy a03s
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WebMyotonic dystrophy (DM) is a form of muscular dystrophy that affects muscles and many other organs in the body. The word “myotonic” is the adjectival form of the word “myotonia,” defined as an inability to relax … WebSep 26, 2024 · INTRODUCTION. Myotonic dystrophy type 1 (DM1) and myotonic dystrophy type 2 (DM2) are autosomal dominant, multisystem disorders characterized by skeletal … WebMyotonic dystrophy. Mutations in the DMPK gene cause a form of myotonic dystrophy known as myotonic dystrophy type 1. Myotonic dystrophy is characterized by progressive muscle wasting and weakness. The muscle weakness associated with type 1 particularly affects muscles farthest from the center of the body (distal muscles), such as those of … how to turn on samsung flip