منابع مشابه
Myotonic dystrophy complicated by peripheral vascular disease.
Case report A 40-year-old man was admitted to a surgical unit with a 3-week history of increasing pain in the right foot. In the past year he had experienced pain in both calves on walking half a mile, and in addition, had been falling frequently, his legs '6;ving way'. He had had bilateral cataract extractions on,., year previously. There was no history of diabetes melitus or medication. He wa...
متن کاملWiedmann rautenstrauch progeroid syndrome:case report
premature aging of Wiedmann rautenstrauch type is a rare syndrome,of which only nine cases has been reported up to 1994.this syndrome is characterized by cardiac, mental and physical problems such as skull and vertebral malformation which can be diagnosed from birth.in this article a 24 year old woman is reportef who was reffered to interal medicine clinic with the chief complaint of palpitatio...
متن کاملOcular motor myotonic phenomenon in myotonic dystrophy.
OBJECTIVE To detect disconjugate ocular motor abnormalities and a possible extraocular muscle myotonic phenomenon in patients with myotonic dystrophy (MyD). METHODS The magnetic scleral search coil technique was used to record monocularly the small (25 degrees ) and large (50 degrees ) saccades, which were paced to two interstimulus intervals (ISIs), one short (1 s), the other long (5 s). The...
متن کاملThree cases of androgen-dependent disease associated with myotonic dystrophy.
Three cases of androgen-dependent disease in females with myotonic dystrophy are described. Serum androgens in individuals affected by myotonic dystrophy are known to be lower on average than in normal controls. Despite this these three females developed diseases that are androgen dependent, including acne, hidradenitis suppurativa, androgenetic alopecia and keratosis pilaris. These cases suppo...
متن کاملMyotonic syndromes.
PURPOSE OF REVIEW To highlight recent advances in understanding the clinical manifestations and molecular genetics of myotonic syndromes, with particular emphasis on the myotonic dystrophies. RECENT FINDINGS Myotonic syndromes include the non-dystrophic myotonias, caused by mutations in genes encoding the chloride or sodium channels that are specific to skeletal muscle, and the myotonic dystr...
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ژورنال
عنوان ژورنال: Frontiers in Neurology
سال: 2018
ISSN: 1664-2295
DOI: 10.3389/fneur.2018.00601