Myotonia congenita

What is Myotonia congenita?

An uncommon muscle disorder, with onset in infancy or early childhood, characterized by muscle hypertrophy, myotonia, and a nonprogressive course; autosomal dominant inheritance; caused by mutations in the skeletal muscle chloride channel gene (CLCN1) on chromosome 7q.

Questions and answers on "Myotonia congenita"

Doctor suspected myotonia congenita after EMG, no Gene tests were done.
is gene tests reqquired to confirm the Myotonia congenita,
from the...

doctor1 MD

yeah.. gene test is necessary to know the phenotypes and the genes which are involved. genes test will also help us to know the exact cause for the...

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I sometimes feel my muscles get tight(Contracted) and muscles take few seconds to relax. It happens when i indulge in any physical activity...

doctor1 MD

Brief Answer:
Suggestive of myotonia congenita.

Detailed Answer:

I have gone through the reports attached.
Your symptoms are suggestive...

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Hi, My name Is Deepak m From Belgaum Dist. I have Myotonia Congenita Disease It was diagnosed in the year 2004 through EMG , from now m taking...

doctor1 MD

Thanks for writing to us.
There are other drugs also available. but the one you are taking is the ost acceptable and is with least side...

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