Results 181 to 190 of about 2,985,698 (230)

Sleep disorders in myotonic dystrophies

Muscle & Nerve, 2020
AbstractMyotonic dystrophies (DM), the most common muscular dystrophies, are known to have significant sleep disturbances. We analyzed the literature on sleep and excessive daytime sleepiness (EDS) in DM over the past 30 years. In this review we provide a brief overview of sleep, sleep disorders, and methods of assessment.
Sub H, Subramony, James P, Wymer, Belinda S, Pinto, Eric T, Wang   +3 more
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Myotonic Disorders and Channelopathies

Seminars in Neurology, 2015
Myotonic dystrophies and channelopathies are rare but important causes of muscle diseases which may present with myotonia, episodic attacks of weakness, fixed muscle weakness, and atrophy or their combination. Here, the authors provide an overview of these disorders and describe their clinical and pathophysiological features, diagnostic methods, and ...
Colin, Quinn, Mohammad Kian, Salajegheh
openaire   +3 more sources

Electrodiagnosis of Myotonic Disorders

Physical Medicine and Rehabilitation Clinics of North America, 2013
Clinical and electrical myotonia is caused by a small group of neuromuscular disorders. This article reviews myotonia and its differential diagnosis. The use of electrodiagnostic testing to evaluate the primary myotonic disorders (myotonic dystrophy and the nondystrophic myotonias) is also discussed.
Michael K, Hehir, Eric L, Logigian
openaire   +3 more sources

Nondystrophic Myotonic Disorders

2017
Nondystrophic myotonias have prominent myotonia, well-developed muscles and minimal weakness. Mobility improves with exercise. These channelopathies are transmitted as autosomal dominant or recessive traits. Electrophysiology confirms myotonia and genetic tests are available to support the diagnosis.
Satish V. Khadilkar, Rakhil S. Yadav, Bhagyadhan A. Patel   +2 more
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Myotonic dystrophy type 2 and related myotonic disorders

Journal of Neurology, 2004
The myotonic dystrophies are a group of dominantly inherited disorders characterized by muscle wasting, myotonia, cataracts, hypogonadism and other system manifestations. Myotonic dystrophy type 1 (DM1) results from an unstable expansion of a CTG repeat in 3' UTR of the DM protein kinase (DMPK) gene on chromosome 19q 13.3.
G. Meola, R.T. Moxley
openaire   +4 more sources

Malignant hyperthermia and myotonic disorders

Anesthesiology Clinics of North America, 2002
Advances in physiology and molecular genetics have promoted greater understanding of the various clinical manifestations of muscle disorders. For example, myotonia or profound weakness may be observed in sodium channel disease (e.g., paramyotonia congenita or hyperkalemic periodic paralysis), depending on the specific channel defect or with slight ...
Harvey K, Rosenbaum, Jordan D, Miller
openaire   +3 more sources

The diagnosis and treatment of myotonic disorders

Muscle & Nerve, 2013
Myotonia is a defining clinical symptom and sign common to a relatively small group of muscle diseases, including the myotonic dystrophies and the nondystrophic myotonic disorders. Myotonia can be observed on clinical examination, as can its electrical correlate, myotonic discharges, on electrodiagnostic testing.
Chad R, Heatwole, Jeffrey M, Statland, Eric L, Logigian   +2 more
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Differential diagnosis of myotonic disorders

Muscle & Nerve, 2007
AbstractThe presence of myotonia and paramyotonia on clinical examination and of myotonic discharges during electrodiagnostic (EDX) studies are important for the diagnosis of certain neuromuscular conditions. The increased muscle activity of myotonia produces muscle stiffness that improves with repeated activity. Paramyotonia produces a similar symptom,
T. Miller
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Histochemistry of the Myotonic Disorders

1966
Histochemical analysis of muscle biopsies from patients with myotonic disorders both confirms abnormalities that are observed by ordinary histologic techniques (such as sarcoplasmic masses) and demonstrates new changes detectable only with histochemistry (such as preferential atrophy of type I fibers).
W. King Engel, Michael H. Brooke
openaire   +2 more sources