Results 141 to 150 of about 1,270,049 (189)

Prenatal manifestations and perinatal outcomes in congenital myotonic dystrophy: clinical patterns and diagnostic implications. [PDF]

Case Rep Perinat Med
Zayat N, Aspir T, Shinder E, Wu S, Suskin E, Khan S, Rabin-Havt S, Dar P, Doulaveris G.   +8 more
europepmc   +1 more source

Therapy in myotonic disorders and in muscle channelopathies [PDF]

Neurological Sciences, 2000
Myotonia and muscle weakness are cardinal features of myotonic disorders including the myotonic dystrophies and the non-dystrophic myotonias. Despite the recent progress in molecular genetics of these myotonic disorders, the precise mechanisms ...
Giovanni Meola
exaly   +8 more sources

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 ...
Giovanni Meola, Richard T Moxley
exaly   +5 more sources

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Sleep disorders in myotonic dystrophies

Muscle and 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.
S H Subramony, James Wymer, Eric T Wang
exaly   +3 more sources

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 Salajegheh
exaly   +3 more sources

The diagnosis and treatment of myotonic disorders

Muscle and 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 Heatwole, Jeffrey Statland
exaly   +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
exaly   +3 more sources