Results 11 to 20 of about 31,854 (258)
Fundus flavimaculatus-like in myotonic dystrophy: a case report [PDF]
BMC Ophthalmology, 2021 Informe d'un cas; Fundus flavimaculatus; Distròfia miotònicaReporte de un caso; Fundus flavimaculatus; Distrofia miotónicaCase report; Fundus flavimaculatus; Myotonic dystrophyBackground Myotonic dystrophy is an inherited disease characterized by ...
Azarfane, Brahim +5 more
core +2 more sources
Pattern Dystrophy of the Macula in a Case of Steinert Disease [PDF]
Case Reports in Ophthalmology, 2013 IntroductionMyotonic dystrophies are typically associated with ocular complications like ptosis, weakness of the ocular muscle and cataracts, but also with less recognized retinal changes.Case ReportA 41-year-old female with type 1 myotonic dystrophy ...
Dolz-Marco, Rosa +4 more
core +4 more sources
Pediatric Neurology Briefs, 1987 Ten infants with congenital myotonic dystrophy admitted to the Dept Pediatrics and Neonatal Medicine, Royal Postgraduate Medical School, Hammersmith Hospital, London, 1982-86, were investigated by ultrasonography or CT brain scans between 1 day and 2 months of age.
J Gordon Millichap
openaire +5 more sources
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
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
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
Pattern retinal dystrophy in a case of myotonic dystrophy
Journal of Clinical Ophthalmology and Research, 2023 Myotonic dystrophy is an autosomal dominant disease which can present with various ocular manifestations. A case of myotonic dystrophy presented with limited visual recovery postcataract surgery. Multimodal imaging analysis, including fundus photography,
Chahveer Singh Bindra +2 more
doaj +1 more source
Myotonic dystrophy: genetics and clinical polymorphism
Анналы клинической и экспериментальной неврологии, 2019 Myotonic dystrophy is the most common form of hereditary progressive muscular dystrophy in adults. The disorder is characterized by progressive course, autosomal dominant inheritance and multisystem involvement (skeletal muscles, myocardium, endocrine ...
Ekaterina O. Ivanova +4 more
doaj +1 more source