Results 201 to 210 of about 2,985,698 (230)
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Genetics and Physiology of the Myotonic Muscle Disorders
New England Journal of Medicine, 1993The myotonic muscle disorders represent a heterogeneous group of clinically similar diseases sharing the feature of myotonia: delayed relaxation of muscle after voluntary contraction (action myoton...
Franklin H. Epstein +3 more
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Archives of Neurology, 1995
Previous investigations in three families have shown that proximal myotonic myopathy (PROMM) is not linked to the gene loci for myotonic dystrophy (DM) or to the loci of the genes of the muscle sodium and chloride channels associated with other myotonic disorders.
K, Ricker +7 more
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Previous investigations in three families have shown that proximal myotonic myopathy (PROMM) is not linked to the gene loci for myotonic dystrophy (DM) or to the loci of the genes of the muscle sodium and chloride channels associated with other myotonic disorders.
K, Ricker +7 more
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Eye movement disorders in myotonic dystrophy type 1
Acta Oto-Laryngologica, 2007No definite sign was found of central oculomotor system disorders being independent of saccadic slowing because (1) diminished maximum slow phase velocity of the optokinetic nystagmus (OKNspv) was closely related to saccadic slowing ...
Ryuichi, Osanai +2 more
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Myotonia and Myotonic Disorders
1984Myotonia is the delayed relaxation of muscles following voluntary contraction (action myotonia) or mechanical stimulation (percussion myotonia). Action myotonia can be demonstrated by asking the patient to release a tightly clinched fist quickly or by having a patient look down after sustained upgaze.
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Myotonic dystrophy and cardiac disorders.
Panminerva medica, 2001Myotonic dystrophy (MD) is a multisystem disease affecting numerous organs and systems. Cardiac involvement is frequent. Sudden death, due to fatal cardiac rhythm and conduction disturbances occurs in 30% of patients with MD. The aim of this study was to assess the possibilities and methods of early detection of myocardial and conduction system ...
V, Rakocević-Stojanović +7 more
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Myotonic disorders and periodic paralysis.
Bailliere's clinical neurology, 1994The myotonias are a diverse set of diseases, variable in presentation, often difficult to diagnose and, until now, treated with only a limited degree of success. Recent genetic advances have pinpointed many of the mutations that underlie these disorders and have demonstrated that there may be different causative genetic mutations underlying the same ...
N, Carey, K J, Johnson
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Myotonic dystrophy type 2 and related myotonic disorders
2011The myotonic disorders result from dysfunction in either the chloride or sodium channel and these disorders fall in the category of nondystrophic myotonias. The other group is represented by myotonic dystrophies. The myotonic dystrophies are multisystem, autosomal dominantly inherited, highly variable muscle disease more frequent in adults.
G. Meola, R. Cardani, R. Moxley
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Sleep Complaints, Sleep and Breathing Disorders in Myotonic Dystrophy Type 2
Current Neurology and Neuroscience Reports, 2019A. Romigi +8 more
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Myotonic dystrophy: a multisystemic disorder
2004Abstract Myotonic dystrophy is one of the most variable of all disorders, a factor that has profound implications for its management. The details of this variability and its consequences are reflected in the specific chapters of this book, but in this introductory chapter an overview of the principal clinical aspects is given ...
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Nav1.4 slow‐inactivation: Is it a player in the warm‐up phenomenon of myotonic disorders?
Muscle and Nerve, 2013Christoph Lossin
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