Definition:
Emery-Dreifuss muscular dystrophy is characterized by some form of a clinical triad consisting of joint structures that usually develop during early childhood. This is accompanied by the slow progression of muscle weakness as well as wasting that starts from the scapular down to the pelvic girdle, along with cardiac muscle involvement.
Diagnosis:
Diagnosis include blood testing to detect the two genes EMD and EDMD that have been known to be the underlying cause of this disease. Molecular genetic testing is typically conducted as well as study of the family medical history.
Treatment:
Treatments for Emery-Dreifuss muscular dystrophy is entirely focused on the management of this debilitating disease. Patients are usually provided with walking aids such as canes and wheelchairs. Other medical assistance also includes a cardiac pacemaker, an implantable cardioverter defibrillator, as well as possible heart transplantations for severe cases.
Symptoms and Signs:
The symptoms for Emery-Dreifuss muscular dystrophy include gradual muscle weakness, palpitations, congestive heart failure and poor tolerance to exercise. It can have a severe manifestation even in childhood or develop as a slow progressive disease in adulthood.
Causes:
For years, Emery-Dreifuss muscular dystrophy was associated to Duchenne muscular dystrophy. But has be categorized as a separate disease altogether. This is a genetic defect caused by an X-lined recessive form as well as an autosomal dominant case.
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emerydreifussmusculardystrophy
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