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These are a group of rare, inherited muscle diseases myopathies. The name of the disease refers to the two doctors who first described it in the s. Symptoms usually appear at about 10 years of age and slowly get worse.

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Will you find ways to support 30 Days of Strength? Emery-Dreifuss muscular dystrophy EDMD is one of nine types of muscular dystrophy, a group of genetic, degenerative diseases primarily affecting voluntary muscles. It is named for Alan Emery and Fritz Dreifuss, physicians who first described the disorder among a Virginia family in the s.

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Alternative titles; symbols. Emery-Dreifuss muscular dystrophy is a degenerative myopathy characterized by weakness and atrophy of muscle without involvement of the nervous system. Flexion deformities of the elbows dating from early childhood, mild pectus excavatum, signs of cardiac involvement and absence of muscle pseudohypertrophy, involvement of the forearm muscles, and mental retardation distinguish the Emery-Dreifuss form EDMD1 from the Becker form

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Emery—Dreifuss muscular dystrophy EDMD is characterized by the clinical triad of scapulohumeroperoneal muscle weakness, joint contractures, and cardiac defects that include arrhythmias and dilated cardiomyopathy. Although there is a defining group of clinical findings, the proteins responsible and their underlying gene defects leading to EDMD are varied. A common aspect of the gene defects is their involvement in, or with, the nuclear envelope. Treatment approaches are largely based on clinical symptoms.

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The age of onset, severity, and progression of EDMD varies greatly from case to case, even among individuals of the same family. Some affected individuals may experience childhood onset with rapid disease progression and severe complications; others may experience adult onset and a slowly progressive course. EDMD is associated with the clinical triad of contractures, muscle weakness, and heart disease.

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Muntoni, G. Bonne, L. Goldfarb, E.

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Emery—Dreifuss muscular dystrophy is a condition that mainly affects muscles used for movement, such as skeletal muscles and also affects the cardiac muscle, it is named after Alan Eglin H. Emery and Fritz E. Symptoms of EDMD begin in teenage years with toe-walking, rigid spineface weakness, hand weakness and calf hypertrophy.

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Will you find ways to support 30 Days of Strength? The year-old high school junior has a part-time job as a cook at a restaurant near his home in Port Charlotte, Fla. But had it not been for the alertness and persistence of his mother, Katherine, an intensive care nurse, things could have taken a tragic turn not long ago.

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Back to Muscular dystrophy. There are many different types of muscular dystrophy MD. Girls can occasionally be affected, although the condition tends to be milder.

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When refering to evidence in academic writing, you should always try to reference the primary original source. That is usually the journal article where the information was first stated. In most cases Physiopedia articles are a secondary source and so should not be used as references.


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