Results 1 to 10 of about 33,763 (228)
Rinsho Shinkeigaku, 2013 No effective treatment was available for myotonic dystrophy, even in animal model. We have established a new antisense oligonucleotide delivery to skeletal muscle of mice with bubble liposomes, and led to increased expression of chloride channel (CLCN1) protein and the amelioration of myotonia.
Shoichi, Ishiura +2 more
openaire +4 more sources
Treatment of sleep central apnea with non-invasive mechanical ventilation with 2 levels of positive pressure (bilevel) in a patient with myotonic dystrophy type 1 [PDF]
, 1906 We are reporting a case of a 29 year-old female with diagnosis of myotonic dystrophy type 1 (Steinert’s disease) with excessive daytime sleepiness, muscle fatigue, snoring, frequent arousals, non-restorative sleep, and witnessed apneas.
Akamine, Ricardo Tera +7 more
core +3 more sources
Cutaneous findings in myotonic dystrophyCapsule Summary
JAAD International, 2022 Myotonic dystrophy types 1 and 2 are a group of complex genetic disorders resulting from the expansion of (CTG)n nucleotide repeats in the DMPK gene. In addition to the hallmark manifestations of myotonia and skeletal muscle atrophy, myotonic dystrophy ...
Ha Eun Kong, MD, PhD +1 more
doaj +1 more source
Orphanet Journal of Rare Diseases, 2022 Background Myotonic dystrophy (DM) is a rare, inherited disorder with multi-systemic effects that impact the skeletal muscles, eyes, heart, skin and gastrointestinal, endocrine, respiratory, and central nervous systems.
Sarah J. Howe +5 more
doaj +1 more source
Fundus flavimaculatus-like in myotonic dystrophy: a case report
BMC Ophthalmology, 2021 Background Myotonic dystrophy is an inherited disease characterized by progressive muscle weakness and myotonia. It is a multisystemic disorder that affects different parts of the body, including the eye.
Eric Kirkegaard-Biosca +5 more
doaj +1 more source
Congenital Myotonic Dystrophy in the Neonatal Period -
Listy klinicke logopedie, 2023 Congenital myotonic dystrophy is the most severe form of myotonic dystrophy type 1 (DM1), an autosomal dominant multisystem disorder. Myotonic dystrophies are primarily degenerative, genetically determined and progressive disorders of skeletal and smooth
Barbora Červenková
doaj +1 more source
Clinical Care Recommendations for Cardiologists Treating Adults With Myotonic Dystrophy
Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, 2020 Myotonic dystrophy is an inherited systemic disorder affecting skeletal muscle and the heart. Genetic testing for myotonic dystrophy is diagnostic and identifies those at risk for cardiac complications.
Elizabeth M. McNally +11 more
doaj +1 more source
CRISPR/Cas9-induced (CTG⋅CAG)n repeat instability in the myotonic dystrophy type 1 locus: implications for therapeutic genome editing [PDF]
, 2017 Myotonic dystrophy type 1 (DM1) is caused by (CTG⋅CAG)n-repeat expansion within the DMPK gene and thought to be mediated by a toxic RNA gain of function.
André, Laurène M. +11 more
core +17 more sources
Medicina, 2023 A 34-year-old nulliparous gravid female presented with acute bilateral pyelonephritis at 29 + 5 weeks gestation. The patient was relatively well until two weeks ago when a slight increase in amniotic fluid was noted.
Hyun Mi Kim +5 more
doaj +1 more source
Steinert's disease, from assumption to certainty in neurological practice [PDF]
Balneo and PRM Research Journal, 2022 Steinert’s disease, or myotonic dystrophy type 1 (MD1), is the most prevalent myopathy in adults. We report the case of a patient who was admitted to the Neurology Department for the progressive decrease in muscle strength in the lower limbs bilaterally.
Vitalie Văcăraș +4 more
doaj +1 more source