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Neuromuscular Issues in EDMD

Progression

The progression of EDMD on the muscles is slow and degenerative.  Onset is usually in the mid to late teens with contracture in the arms, Achilles tendon, neck and spine.  Some cases are severe enough to warrant wheelchair use at an early age.

Usually a patient with EDMD will show signs of contracture, poor coordination as a young child, and unusually skinny arms.  The inability to build muscle is part of this disease.  It is generally considered that a person with EDMD is born with a certain level of strength in the muscles and those levels will only decrease throughout their life.

There was a time when some people were encouraged to exercise when young in an attempt to build muscle, only to find that exercise may contribute to increasing or speeding up muscle weakening as a person ages.

Some people benefit from slow stretching techniques or swimming to tone and keep active.  Even though these are low impact techniques, they should be used with caution and only with your doctor’s approval.

Corrective Surgery

Some people have benefited from Achilles tendon surgery, lengthening the tendon, if the contracture is severe in this area.  Surgical intervention may reduce or eliminate the “toe walking” symptom that occurs with EDMD.


Muscle Testing

In EDMD Patients muscle tissue, when lost, can be replaced by fat cells. Doctors will measure the muscle using strength tests in the office. Taking circumference measurements of your limbs is not a valid way to measure muscle growth or loss. Allowing the doctor test the muscle strength is the best way to know how rapidly your muscle loss is progressing.

A scientific way exists to measure muscle loss which is done with a muscle MRI. Usually this test is not common when being followed for EDMD.  

Common Physical Symptoms of EDMD