myotonic


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myotonic

[¦mī·ə¦tän·ik]
(medicine)
Of, pertaining to, or characterized by myotonia.
References in periodicals archive ?
Despite evidence that clinicians and patients may have different concerns and goals, much of the current myotonic dystrophy literature is written from a biomedical perspective, and relatively few qualitative studies explore the perspectives of patients with muscular dystrophy (LaDonna, Koopman, Ray, & Venance, in press; Bostrom & Ahlstrom, 2005; Bostrom & Ahlstrom, 2004; Bostrom, Ahlstrom, & Sunvisson, 2006; Cup et al, 2011; Faulkner & Kingston, 1998; Heatwole et al.
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.
What's especially gratifying is that antisense drugs also seem to work better in the nucleus, so it seems as though the mechanism of myotonic muscular dystrophy may be the key to defeating it, according to Thornton.
0 million from the Muscular Dystrophy Association supporting the IPLEX(TM) Phase 2 Myotonic Muscular Dystrophy ("MMD") trial.
9) Multiple and familial lesions have occurred in association with myotonic dystrophy, Gardner syndrome, Turner syndrome, Steinert disease, and sarcoidosis.
Was there any indication for a NMD, such as Barth-syndrome, myoad-enylate-deaminase deficiency, myotonic dystrophy, dystrophinopathy, zaspopathy, hereditary neuropathy, Friedreich ataxia, Pompe's disease, a mitochondrial disorder, or laminopathy, which have been reported to be associated with LVHT?
Our 19-year-old grandson was diagnosed with myotonic muscular dystrophy.
Myotonic dystrophy type 1 (DM1; OMIM # 160900) is an autosomal dominant genetic multisystemic disease, with a occurrence rate of ~3 to 15 per 100 000 people in most European populations (1).
So far, the disorders include female fragile X syndrome (carrier), Fanconi anemia A, 1 bp deletion (carrier), neurofibromatosis type 1 (five cell lines), myotonic dystrophy (two cell lines), Marfan syndrome, [beta]-globin mutation IVS 1-1 (carrier), [beta]-thalassemia, and Becker muscular dystrophy.
British researchers at the Radcliffe Infirmary at Oxford have found a reduction in excess daytime sleepiness by modafnil in patients with myotonic dystrophy.