Learn About Paramyotonia Congenita

What is the definition of Paramyotonia Congenita?

Paramyotonia congenita is a disorder that affects muscles used for movement (skeletal muscles). Beginning in infancy or early childhood, people with this condition experience bouts of sustained muscle tensing (myotonia) that prevent muscles from relaxing normally. Myotonia causes muscle stiffness that typically appears after exercise and can be induced by muscle cooling. This stiffness chiefly affects muscles in the face, neck, arms, and hands, although it can also affect muscles used for breathing and muscles in the lower body. Unlike many other forms of myotonia, the muscle stiffness associated with paramyotonia congenita tends to worsen with repeated movements.

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What are the causes of Paramyotonia Congenita?

Mutations in the SCN4A gene cause paramyotonia congenita. This gene provides instructions for making a protein that is critical for the normal function of skeletal muscle cells. For the body to move normally, skeletal muscles must tense (contract) and relax in a coordinated way. Muscle contractions are triggered by the flow of positively charged atoms (ions), including sodium, into skeletal muscle cells. The SCN4A protein forms channels that control the flow of sodium ions into these cells.

How prevalent is Paramyotonia Congenita?

Paramyotonia congenita is an uncommon disorder; it is estimated to affect fewer than 1 in 100,000 people.

Is Paramyotonia Congenita an inherited disorder?

This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In many cases, an affected person has one parent with the condition.

Who are the top Paramyotonia Congenita Local Doctors?
Elite
Highly rated in
7
conditions
Neurology

Mass General Brigham

Partners TeleStroke Center

15 Parkman St 
Boston, MA 2114

Thurman Wheeler is a Neurologist in Boston, Massachusetts. Dr. Wheeler has been practicing medicine for over 27 years and is rated as an Elite doctor by MediFind in the treatment of Paramyotonia Congenita. He is also highly rated in 7 other conditions, according to our data. His top areas of expertise are Myotonic Dystrophy Type 2, Myotonic Dystrophy, Paramyotonia Congenita, and Duchenne Muscular Dystrophy. He is licensed to treat patients in New York. Dr. Wheeler is currently accepting new patients.

Elite
Highly rated in
12
conditions
Neurology

University of Rochester Medical Center

Strong Memorial Hospital

601 Elmwood Ave 
Rochester, NY 14642

Charles Thornton is a Neurologist in Rochester, New York. Dr. Thornton has been practicing medicine for over 41 years and is rated as an Elite doctor by MediFind in the treatment of Paramyotonia Congenita. He is also highly rated in 12 other conditions, according to our data. His top areas of expertise are Myotonic Dystrophy, Myotonic Dystrophy Type 2, Paramyotonia Congenita, and Amyotonia Congenita. He is licensed to treat patients in New York. Dr. Thornton is currently accepting new patients.

 
 
 
 
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Elite
Highly rated in
17
conditions
Neurology

Indiana University Health

IU Health Physicians Neurology

362 W 15th St 
Indianapolis, IN 46202

Laurie Gutmann is a Neurologist in Indianapolis, Indiana. Dr. Gutmann has been practicing medicine for over 36 years and is rated as an Elite doctor by MediFind in the treatment of Paramyotonia Congenita. She is also highly rated in 17 other conditions, according to our data. Her top areas of expertise are Paramyotonia Congenita, Myotonic Dystrophy, Myotonic Dystrophy Type 2, and Charcot-Marie-Tooth Disease. She is licensed to treat patients in Indiana, Iowa, and West Virginia. Dr. Gutmann is currently accepting new patients.

What are the latest Paramyotonia Congenita Clinical Trials?
Establishing Biomarkers and Clinical Endpoints in Myotonic Dystrophy Type 1 (END-DM1)
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Structured Collection of Data Relating to Rare Diseases With Predominantly Skeletal Involvement
Who are the sources who wrote this article ?

Published Date:updated Last, August

Published By: National Institutes of Health

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