EmeryDreifuss muscular dystrophy – Wikipedia

Posted: Published on August 17th, 2018

This post was added by Dr. Richardson

EmeryDreifuss 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. Dreifuss.[4][5]

Symptoms of EDMD begin in teenage years with toe-walking, rigid spine, face weakness, hand weakness and calf hypertrophy.[3] Among other signs/symptoms of EmeryDreifuss muscular dystrophy are:[2][6]

Mutations in the EMD, LMNA, and several other genes cause the various types of EmeryDreifuss muscular dystrophy.[1] The EMD and LMNA genes provide instructions for making proteins that are components of the nuclear envelope, which surrounds the nucleus in cells. The nuclear envelope regulates the movement of molecules into and out of the nucleus, and researchers believe it may play a role in regulating the activity of certain genes.[medical citation needed]

The diagnosis of EmeryDreifuss muscular dystrophy can be established via single-gene testing or genomic testing, and clinically diagnosed via the following exams/methods:[2]

The types of EmeryDreifuss muscular dystrophy are distinguished by their pattern of inheritance: X-linked, autosomal dominant, and autosomal recessive.[2]

The treatment (management) of EmeryDreifuss muscular dystrophy can be done via several methods, however secondary complications should be consider in terms of the progression of EDMD, therefore cardiac defibrillators may be needed at some point by the affected individual. Other possible forms of management and treatment are the following:[2][20]

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EmeryDreifuss muscular dystrophy - Wikipedia

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