 Myotonia
Congenita
What is Myotonia Congenita?
Myotonia congenita is a disorder where voluntary muscles (such as the
arms and legs) relax slowly. Symptoms include stiffness and muscle enlargement
(hypertrophy). Symptoms are often relieved by exercise. It is caused by
a gene mutation. There are two types, Thomsen (which is less severe) and
Becker (which is more severe).
Who Gets Myotonia Congenita?
Myotonia congenita is present at birth and comes from a genetic mutation.
The gene must be present in one parent or both parents for their child
to have myotonia congenita.
How is Myotonia Congenita Diagnosed?
After learning the patient's history to see if there is a family history
of myotonia congenita, a physician may perform an EMG and a muscle biopsy.
How is Myotonia Congenita Treated?
In many cases, no treatment is required. Some medications can be used
to help treat the symptoms, and physical therapy may be used to help muscles.
A person with myotonia congenita can lead a relatively normal life.
To Find a Specialist
To find a physician board-certified to conduct needle EMGs and nerve conduction
studies click here: www.abemexam.org
For More Information
National Society for Genetic
Counselors (NSGC): www.nsgc.org
Hereditary Disease Foundation:
www.hdfoundation.org
Alliance of Genetic Support
Groups: www.geneticalliance.org
Medline Plus: www.nlm.nih.gov
MD Association: www.mdausa.org
National Institute of Neurological
Disorders and Stroke: www.ninds.nih.gov
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