Medical Health Encyclopedia

Injury Disease Nutrition Poison Symptoms Surgery Test Special Topic

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Superficial anterior muscles

Overview Symptoms Treatment Prevention

Myotonia congenita

Alternative Names: Thomsen's disease Symptoms: The hallmark of this condition is the myotonia -- the inability of the muscle to quickly relax after voluntary contraction. For example, after a handshake, the affected individual is only very slowly able to open and disengage his hand. Text Continues Below Early symptoms may include gagging and difficulty in swallowing, because oropharyngeal muscles are slow to relax. Initial movements may be stiff but improve with immediate repetition. Children with myotonia congenita often appear to be muscular and well-developed. There may not be symptoms of myotonia congenita until the child is 2 or 3 years old. Signs and tests: There is often a family history of myotonia congenita. An EMG demonstrates myotonic potentials. A muscle biopsy may show an absence of type 2B fibers.

A.D.A.M., Inc. is accredited by URAC, also known as the American Accreditation HealthCare Commission (www.urac.org). The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed physician should be consulted for diagnosis and treatment of any and all medical conditions. Call 911 for all medical emergencies. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. Copyright 2004 A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.