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Emery–Dreifuss muscular dystrophy
Emery–Dreifuss muscular dystrophy is a condition that chiefly affects muscles used for movement (skeletal muscles) and heart (cardiac) muscle.
It is named after Alan Eglin H. Emery (1928–) and Fritz E. Dreifuss.
==Presentation==
Among the earliest features of this disorder are joint deformities called contractures, which restrict the movement of certain joints. Contractures become noticeable in early childhood to teenage years and most often involve the elbows, ankles, and neck. Most affected individuals also experience slowly progressive muscle weakness and wasting, beginning in muscles of the upper arms and lower legs and progressing to muscles in the shoulders and hips. A power chair or scooter or wheelchair may be needed by adulthood.
Almost all people with Emery–Dreifuss muscular dystrophy have heart problems by adulthood. In many cases, these heart problems stem from abnormalities of the electrical signals that control the heartbeat (cardiac conduction defects) and abnormal heart rhythms (arrhythmias). If untreated, these abnormalities can lead to an unusually slow heartbeat (bradycardia), fainting (syncope), and an increased risk of stroke and sudden death.
抄文引用元・出典: フリー百科事典『 ウィキペディア（Wikipedia）』
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