|Signs and Symptoms||Approximate number of patients (when available)|
|Myotonia with warm-up phenomenon||27/27|
|Skeletal muscle hypertrophy||15/27|
|Autosomal recessive inheritance||-|
|EMG: myotonic runs||-|
|Muscle hypertrophy of the lower extremities||-|
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
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How can I learn about research involving myotonia congenita? Is gene therapy available for myotonia congenita? See answer