Myotonia congenita
Myotonia Congenita
Myotonia Congenita (pronounced: my-oh-TOE-nee-uh kuhn-JEN-ih-tuh) is a genetic disorder characterized by the inability of muscles to quickly relax after a voluntary contraction. The condition is present from early childhood, but symptoms can be mild.
Etymology
The term "Myotonia Congenita" is derived from Greek words: "myo" meaning muscle, "tonia" meaning tension, and "congenita" meaning present from birth.
Symptoms
The most common symptom of Myotonia Congenita is muscle stiffness, especially in the legs, often triggered by movement after rest. Other symptoms may include muscle weakness, difficulty swallowing (Dysphagia), and fatigue.
Causes
Myotonia Congenita is caused by mutations in the CLCN1 gene. This gene provides instructions for making a protein that is critical for the normal function of skeletal muscle cells.
Diagnosis
Diagnosis of Myotonia Congenita is based on the clinical symptoms, a physical examination, and specialized tests that can measure the electrical activity in muscles (Electromyography). Genetic testing can confirm the diagnosis.
Treatment
Treatment for Myotonia Congenita is aimed at relieving symptoms. Medications like Mexiletine can be used to treat muscle stiffness. Physical therapy may also be beneficial.
Prognosis
With treatment, individuals with Myotonia Congenita can lead a normal life. However, the condition is lifelong and symptoms may vary in severity.
Related Terms
External links
- Medical encyclopedia article on Myotonia congenita
- Wikipedia's article - Myotonia congenita
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