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 ?
Myotonic dystrophy mutation: an unstable CTG repeat in the 3' untranslated region of the gene.
The report reviews key players involved Myotonic Dystrophy therapeutics and enlists all their major and minor projects
Endocrine function in 97 patients with myotonic dystrophy type 1.
Neither myotonic dystrophy nor Friedreich's ataxia has ever been reported in a black patient in South Africa [12] (and Jacquie Greenberg, personal communication, 2015).
Myotonic dystrophy type 1 involves a type of RNA defect known as a "triplet repeat," a series of three nucleotides repeated more times than normal in an individual's genetic code, resulting in a number of protein splicing abnormalities.
The charities are appealing to the estimated 6,000 people in the UK thought to have Type 1 myotonic dystrophy to come forward and add their details to the register.
The use of sugammadex to reverse rocuronium in a patient with myotonic dystrophy.
Myotonic dystrophy (Steinert disease) usually presents during the teenage years or adolescence, but the onset of pilomatricoma can range from many years before or many years after the onset of symptomatic myotonic dystrophy.
Thus limited studies assessing exercise training in muscular dystrophies showed that low-intensity AT improved peak exercise capacity with no signs of muscle damage in facioscapulohumeral dystrophy (FSHD), Becker's and myotonic dystrophy, moderate intensity ST is reported to have no negative effects, however improvements in muscle strength or size are limited or non-existent.
Vernon was the sole carer for his wife, who suffered from the muscle-wasting disease myotonic dystrophy.