Results 91 to 100 of about 1,270,049 (189)

New method for molecular diagnosis and demonstration of the (CCTG)n mutation in myotonic dystrophy type 2 (DM2)

, 2004
Myotonic dystrophy types 1 and 2 are autosomal dominant, multisystemic disorders with many similarities in their clinical manifestations. Myotonic dystrophy type 1 is caused by a (CTG)n expansion in the 30 untranslated region of the DMPK gene in 19q13.3
K. Huoponen, H. Haapasalo, L.L Bachinski, B Udd, S. Zhang, M. Wessman, G. Meola, R Sallinen, H Kalimo, A. Viola, H. Kalimo, R. Krhae, M. Spirito, B. Udd, R Krahe, S Zhang, L. L. Bachinski, P Hackman, N Horelli-Kuitunen, A Vihola, K Huoponen, M Wessman, N. Horelli Kuitunen, P. Hackman, H Haapasalo, R. Sallinen, G Meola, M Sirito   +27 more
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Myotonic dystrophy type 1 – a multiorgan disorder

Tidsskrift for Den norske legeforening
Myotonic dystrophy type 1 is an autosomal dominant, inherited multiorgan disorder that can affect people of all ages. It is the most prevalent inherited muscular disease in adults. Late diagnosis points to limited knowledge among the medical community that symptoms other than typical muscular symptoms can dominate. The condition often worsens with each
Kristin, Ørstavik, Gro, Solbakken, Magnhild, Rasmussen, Petter Schandl, Sanaker, Hanne Ludt, Fossmo, Einar, Bryne, Torill, Knutsen-Øy, Tonje, Elgsås, Arvid, Heiberg   +8 more
openaire   +2 more sources

Sleep-Wake Cycle and Daytime Sleepiness in the Myotonic Dystrophies

, 2013
Myotonic dystrophy is the most common type of muscular dystrophy in adults and is characterized by progressive myopathy, myotonia, and multiorgan involvement.
Massa, R, Liguori, C, Marciani, M G, Placidi, F, Albanese, M, Romigi, A   +5 more
core   +1 more source

Myotonic dystrophy: diagnosis, management and new therapies.

, 2014
PURPOSE OF REVIEW: Myotonic dystrophies type 1 and type 2 are progressive multisystem genetic disorders with clinical and genetic features in common. Myotonic dystrophy type 1 is the most prevalent muscular dystrophy in adults and has a wide phenotypic ...
Hilton-Jones, David, Turner, C
core   +1 more source

Association of peripheral neuropathy with sleep-related breathing disorders in myotonic dystrophies

Neuropsychiatric Disease and Treatment, 2017
Marta Banach,1,* Jakub Antczak,1,* Rafał Rola21Department of Clinical Neurophysiology, 2First Department of Neurology, Institute of Psychiatry and Neurology, Warsaw, Poland *These authors contributed equally to this workBackground: Myotonic dystrophy (DM)
Banach M, Antczak J, Rola R
doaj  

Unbalance in Myotonic Dystrophy-1 may follow cervical ataxia and respond to exercise [PDF]

, 2007
Patients with myotonic dystrophy-type 1 (DM-1) often fall, due to “intrinsic” mechanisms (eg legs “giving out”) for unknown reasons (Wiles CM.JNNP 2006;77:393-396). A case is presented, in which neck position sense was impaired.
C. Chessa, M. Atanni, L. Tesio
core  

Myotonic Disorder [PDF]

, 2020
openaire   +1 more source

Treatment updates in myotonic disorders. [PDF]

J Neurol
Matthews E, Specterman MJ, Mul K.
europepmc   +1 more source

Expert Insights from a Delphi-driven Neurologists' Panel: Real-world Mexiletine use in Patients with Myotonic Disorders in Italy. [PDF]

J Neuromuscul Dis
Lidonnici D, Brambilla P, Ravasio R, Zozulya-Weidenfeller A, Beiderbeck A, van Aswegen M, Oliveira R, Sansone VA.   +7 more
europepmc   +1 more source

Clinical Spectrum of Proximal Myotonic Myopathy (PROMM) Syndrome

, 2014
We studied 25 patients with proximal myotonic myopathy (PROMM) from 3 unrelated kindreds and present data on the clinical spectrum of this syndrome. Our data show that phenotypic expression and degree of multisystem involvement may vary widely between ...
Giovanni Meola, Valeria Sansone
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