This 18 years old boy has complaints of releasing his grip when intending to throw a ball.What is the diagnosis ?
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8 comments:
rupture of biceps tendon. popeye muscle.
Nope ! Good guess though....try again !
radial nerve palsy
Congenital Myotonica
Yes ! Myotonia congenita. There are 2 types :
1) Thomsen disease (AD)
2) Becker disease (AR)
It is a Chloride channel disorder
The picture shows Herculean appearance !!
Warm up effect - repeated movements can relieve myotonia
thomsen is the name of the founder of the disease whom also was a patient oa MD
http://en.wikipedia.org/wiki/Myotonia_congenita
Myotonia congenita is a neuromuscular disease occurs in the skeletal muscles. This disease leads to delayed relaxation of the body muscles resulting in the voluntary contraction of the muscles. Some of the symptoms are difficulty in swallowing, falling frequently, inability to open the eyelids,etc.
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