A Case of Myotonic Dystrophy with Electrolyte Imbalance
نویسندگان
چکیده
منابع مشابه
A Case of Myotonic Dystrophy with Electrolyte Imbalance
Type 1 myotonic dystrophy (DM1) is an autosomal-dominant inherited disorder with a multisystem involvement, caused by an abnormal expansion of the CTG sequence of the dystrophic myotonia protein kinase (DMPK) gene. DM1 is a variable multisystem disorder with muscular and nonmuscular abnormalities. Increasingly, endocrine abnormalities, such as gonadal, pancreatic, and adrenal dysfunction are be...
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A 46-year-old man presented with visual disturbances in both eyes. His best corrected visual acuity was 0.7 (both eyes). Ptosis and limitation of ocular movement in every direction were observed. Slit lamp examination showed a bilateral iridescent cataract. Fundus examination showed peripheral depigmentation of the retinal pigment epithelium and pigmentary clumping in both eyes that agreed with...
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An unquiet life. Memoirs of a physician and cardiologist. This book is of unusual interest. It is not a history of cardiology in Belfast in the last forty years, though that is touched on in some of its aspects. It is the self-revelation of the remarkable man and physician who revolutionised the practice of cardiology in Belfast, in Ulster, and ultimately the world. He may not have meant it, bu...
متن کاملmyotonic dystrophy
SYNOPSIS A case of myotonic dystrophy accompanied by alveolar hypoventilation and hypersomnia is presented. Radiological studies and EMG examination of the intercostal muscles demonstrated that the respiratory muscles were affected by the disease, while polygraphic recordings showed that the alveolar hypoventilation and pulmonary hypertension worsened during sleep. The hypersomnia preceded the ...
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We hereby report a 79-year-old Iranian man presenting with nail dystrophy and subsequent development of purpuric and ecchymotic plaques, hemorrhagic bullae, and infiltrated papules on the head, neck and trunk. Histological examination of the gingiva, bone marrow aspiration, and biopsy confirmed the diagnosis of primary systemic amyloidosis. In this case, nail dystrophy was the presenting sign o...
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ژورنال
عنوان ژورنال: Journal of Korean Medical Science
سال: 2013
ISSN: 1011-8934,1598-6357
DOI: 10.3346/jkms.2013.28.7.1111