...Stephan Wenninger; Kristina Stahl; Federica Montagnese; Benedikt Schoser Introduction: Myotonic dystrophies (DMs) are the most frequent autosomal dominant neuromuscular disorders in adults. Our objective was to evaluate the utility of an online survey in a rare disease as well as to assess...

...Yuhei Takado; Kenshi Terajima; Masaki Ohkubo; Kouichirou Okamoto; Takayoshi Shimohata; Masatoyo Nishizawa; Hironaka Igarashi; Tsutomu Nakada Patients with myotonic dystrophy type 1 (DM1) (n = 14) were compared with healthy controls (n = 13) using 3.0 T proton magnetic resonance spectroscopy ( 1 H...

...G. Vita; A. Toscano; A. Prelle; A. Bordoni; N. Checcarelli; N. Bresolin; A. Baradello; C. Messina Mitochondrial abnormalities have been previously reported in some patients with myotonic dystrophy (DM). The aim of the present paper was to study muscle mitochondria in 32 DM patients by morphological...

...Ikuo Goto; Nobue Shinno; Yoshigoro Kuroiwa Neutral and acid protease activities inhibited by chymostatin, leupeptin, pep-statin and HgCI 2 in mononuclear cells and granulocytes showed no significant differences between myotonic dystrophy patients and controls. These results suggest...

...Peter Brøgger Christensen Two elderly siblings with myotonic dystrophy (MD) were admitted with symptoms and signs of normal pressure hydrocephalus, the diagnosis being confirmed by CT scan and infusion test. A further 11 younger members of the family also had MD; in 2 of these, none of whom had...

...T. Furukawa; N. Odajima; S. Watabiki; H. Tsukagoshi This article argues against the general idea that the patient described by Gowers as distal myopathy in 1902 may have suffered from myotonic dystrophy. A case of distal myopathy with markedly atrophic sternocleidomastoids is presented. Patients...

...B. Mamoli; P. Dal-Bianco; K. Zeitlhofer The effect of dantrolene sodium, using a dosage of 120 mg/day, was investigated in 3 patients suffering from myotonic dystrophy. These patients showed a marked reversible deterioration of the clinical symptoms, caused by a reduction of the isometric strength...

...V. Ionasescu; R. Ionasescu; P. Cancilla; L. Kahn; H. Zellweger Muscle samples for cultures were obtained from the tibialis anterior by open biopsy under local anesthesia in 12 patients with myotonic dystrophy and 15 controls. Total protein synthesis in muscle cultures from patients with myotonic...

..., instructions or products referred to in the content or advertisements. Cyclic AMP Cyclic GMP Duchenne-type progressive muscular dystrophy Myotonic dystrophy Dystrophic mice Dystrophic chicken embryo Radioimmunoassay Eur. Neurol. 18: 356 -360 (1979) Cyclic Nucleotides in Progressive Muscular...

...D. Vassilopoulos; E.M. Lumb This study is an attempt to quantify the muscle nuclear changes in myotonic dystrophy. The number of sarcolemmal and central nuclei per muscle fibre was estimated in muscle biopsies from 8 patients and 8 age- and sex-matched controls. The number of both the sarcolemmal...

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..., quality or safety. The publisher and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements. Myotonia Myotonic dystrophy Thomson's disease Reflexogram Relaxation time...

.... Myotonic dystrophy Magnetic resonance imaging Virchow-Robin spaces Case-control studies Myotonic dystrophy (dystrophia myotonica, DM), the most common adult form of muscular dystrophy, is a multisystem disease caused by a triplet (CTG) repeat expansion in the 3′ untranslated region of a gene...

...A. Kohler; P. Burkhard; S. Hefft; A. Bottani; G.P. Pizzolato; M.R. Magistris Proximal myotonic myopathy (PROMM) is an autosomal dominant muscle disorder characterized by proximal weakness, myotonia, muscle pain and cataract. It resembles Steinert myotonic dystrophy (MD), but weakness is proximal...

...), we conclude that he may have been affected by myotonic dystrophy (MD). Moreover, the available data on his family suggest that MD may have caused the end of the royal bloodline of the Eighteenth Dynasty. Fig. 2 Colossal Akhenaton statue, known as the ‘asexual colossus’ from the Aton temple...