myotonic dystrophy


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myotonic dystrophy

[¦mī·ə¦tän·ik ′dis·trə·fē]
(medicine)
A hereditary disease, transmitted as an autosomal dominant, characterized by lack of normal relaxation of muscles after contraction, slowly progressive muscular weakness and atrophy, especially of the face and neck, cataract formation, early baldness, gonadal atrophy, abnormal glucose tolerance curve, and, frequently, mental deficiency.
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References in periodicals archive ?
Dyne is advancing a treatment for myotonic dystrophy type 1 in addition to programs for Duchenne muscular dystrophy and facioscapulohumeral muscular dystrophy.
Mice transgenic for the human myotonic dystrophy region with expanded CTG repeats display muscular and brain abnormalities.
Cooper, "Long-term arrhythmia follow-up of patients with myotonic dystrophy," Journal of Cardiovascular Electrophysiology, vol.
People with myotonic dystrophy affecting facial and masticatory muscles have a characteristic facial appearance: long face, gonial angle, and mandibular divergence increase, which are frequently associated with malocclusions.
The report provides comprehensive information on the therapeutics under development for Myotonic Dystrophy, complete with analysis by stage of development, drug target, mechanism of action (MoA), route of administration (RoA) and molecule type.
Levisky et al .[sup][8] reported a sibship with 2 individuals affected by myotonic dystrophy and a third with syringomyelia.
Myotonic dystrophy type 1 is the most common form of myotonic muscular dystrophy diagnosed in children, with a prevalence ranging from 1 per 100,000 in Japan to 3-15 per 100,000 in Europe7.
Keywords: caregiver, dysphagia, myotonic dystrophy, phenomenology, qualitative research
In its first-ever guidance on genetic conditions in pregnancy, the ACOG Committee on Genetics outlined the key features of certain maternal genetic conditions, including cystic fibrosis, Marfan syndrome, neurofibromatosis type 1, tuberous sclerosis, autosomal dominant polycystic kidney disease, classic phenylketonuria, Noonan syndrome, and myotonic dystrophy type 1 (Obstet Gynecol.
Although only approximately 20 of these conditions have been identified, they include some of the commoner genetic conditions, such as fragile X mental retardation syndrome, myotonic dystrophy, Huntington disease (HD) and a number of the spinocerebellar ataxias.