Myotonic dystrophy with unilateral bulbar involvement.
نویسندگان
چکیده
منابع مشابه
Cardiac involvement in myotonic dystrophy
BACKGROUND Myotonic dystrophy (DM) is an inherited progressive muscle disorder caused by defects in muscle proteins. As the incidence of this condition is low, not many are familiar with the multisystem involvement. At times, cardiac disease may even be the predominant manifestation in the form of arrhythmias, conduction defects, and cardiomyopathies. The progression of the disease can lead to ...
متن کاملCardiac involvement in congenital myotonic dystrophy.
Seven young patients (mean age 19 years 8 months) with congenital myotonic dystrophy and with defined symptoms at birth were investigated by electrocardiography and echocardiography. None had cardiovascular symptoms. Electrocardiograms or echocardiograms or both were abnormal in all patients. Atrioventricular and intraventricular conduction defects were the most common electrocardiographic abno...
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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 کاملCongenital myotonic dystrophy: variability in muscle involvement and histopathological process.
In order to understand the involvement of specific muscles in congenital myotonic dystrophy type 1 (DM1), we studied the clinical manifestations, and the genetic effects on various tissues in 2 siblings with congenital DM1. The distal leg muscles were more severely involved than the thigh muscles, as seen in the skeletal muscle magnetic resonance imaging. Molecular genetic analysis of the myoto...
متن کاملThe Brain Involvement in Congenital Myotonic Dystrophy: a Review
The congenital variant of Myotonic Dystrophy (MyD) is transmitted by the affected mothers to children with the MyD gene, in the region q!3.3 of chromosome 19, carrying a CTG repeat length larger than 1000. We reviewed the brain abnormalities reported to date in series of cases with Congenital MyD and compared them with our data on patients affected by the same disease. Studies of molecular gene...
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ژورنال
عنوان ژورنال: Journal of Neurology, Neurosurgery & Psychiatry
سال: 1988
ISSN: 0022-3050
DOI: 10.1136/jnnp.51.11.1461-a