Disease or Syndrome
myotonic dystrophy
[ mahy-uh-toh-nik dis-truh-fee ]
Subclass of:
Heredodegenerative Disorders, Nervous System;
Myotonic Disorders;
Muscular Dystrophy
Also called:
Steinert Disease
Definitions related to myotonic dystrophy:
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An inherited progressive disorder affecting the muscles. It is characterized by muscle wasting and hypotonia, cataracts, heart conduction defects and endocrinopathies.NCI ThesaurusU.S. National Cancer Institute, 2021
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Autosomal dominant neuromuscular disorder which usually presents in early adulthood, characterized by progressive muscular atrophy (most frequently involving the hands, forearms, and face), myotonia, frontal baldness, lenticular opacities, and testicular atrophy; cardiac conduction abnormalities, diaphragmatic weakness, and mild mental retardation may also occur; congenital myotonic dystrophy is a severe form of this disorder.CRISP ThesaurusNational Institutes of Health, 2006
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Neuromuscular disorder characterized by PROGRESSIVE MUSCULAR ATROPHY; MYOTONIA, and various multisystem atrophies. Mild INTELLECTUAL DISABILITY may also occur. Abnormal TRINUCLEOTIDE REPEAT EXPANSION in the 3' UNTRANSLATED REGIONS of DMPK PROTEIN gene is associated with Myotonic Dystrophy 1. DNA REPEAT EXPANSION of zinc finger protein-9 gene intron is associated with Myotonic Dystrophy 2.NLM Medical Subject HeadingsU.S. National Library of Medicine, 2021
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Myotonic dystrophy is rare and is autosomal dominant. Two types are recognized. Both affect voluntary muscles and one also affects involuntary muscles. Symptoms begin at adolescence or early adulthood and include myotonia, weakness, and wasting of distal limb muscles and facial muscles. Diagnosis is by DNA analysis. Membrane-stabilizing...Merck & Co., Inc., 2020
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Myotonic dystrophy is a disease that affects the muscles and other body systems. It is the most common form of muscular dystrophy that begins in adulthood, usually in a person�s 20s or 30s. This disease is characterized by progressive muscle loss and weakness. Myotonic dystrophy may be further classified into two types, and the two types...National Center for Advancing Translational Sciences
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