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Lifespan’s A - Z Health Information Library |
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Myotonia congenitaDefinitionMyotonia congenita is an inherited condition that affects muscle relaxation. It is congenital, meaning that it is present from birth. Alternative NamesThomsen's disease; Becker's disease CausesMyotonia congenita is caused by a change (mutation) to a gene. It is passed down from either one or both parents to the children (inherited). Myotonia congenita is believed to be caused by a problem in the part of the muscle cells that are needed for muscles to relax. Abnormal repeated electrical discharges occur in the muscles, causing a stiffness called myotonia. SymptomsThe hallmark of this condition is the myotonia -- the inability of the muscle to quickly relax after contracting. For example, after a handshake, the person is only very slowly able to open and pull away his hand. Early symptoms may include:
Children with myotonia congenita often appear to be muscular and well-developed. The child may not have symptoms of myotonia congenita until age 2 or 3. Exams and TestsThe doctor may ask if there is a family history of myotonia congenita. Tests include:
TreatmentTreatment for symptoms includes:
Outlook (Prognosis)People can do well with this condition. Symptoms only occur when a movement is first started. After a few repetitions, the muscle relaxes and the movement becomes normal. Symptoms may improve later in life. Possible Complications
When to Contact a Medical ProfessionalCall your health care provider if your child has symptoms of myotonia congenita. PreventionGenetic counseling may be of interest to couples who want to have children and have a family history of myotonia congenita. ReferencesBarohn RJ. Muscle diseases. Goldman L, Ausiello D, eds. Cecil Medicine. 23rd ed. Philadelphia, Pa: Saunders Elsevier; 2008:chap 447. Bernard G, Shevell MI. Channelopathies: a review. Pediatr Neurol. 2008 Feb;38(2):73-85. Review Date: 4/22/2009
Reviewed By: A.D.A.M. Editorial Team: David Zieve, MD, MHA, Greg Juhn, MTPW, David R. Eltz. Previously reviewed by Luc Jasmin, MD, PhD, Departments of Anatomy & Neurological Surgery, University of California, San Francisco, CA. Review provided by VeriMed Healthcare Network (4/28/2009). The information provided herein should not be used during any
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