Story about Central Core Disease .

Missold

Aug 21, 2017

By: Karen


My son was born floppy and muscle biopsies confirmed congenital MD. Recent blood genetics result now say RYR1 Mutation and Central core disease is back on the table as it was in the beginning.

I believed until a week ago that Chris disease and my symptoms,s of last two years had no connection as we knew it was autosomal recessive... 

Now not so convinced, lack of stamina, muscle pain, nerve pain... pins and needles, sensations of cold running water down my face and muscle flubbers apparently formally known as fasciculation... so at age fifty... could it be mild symptoms of central core?

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