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Myotonia congenita
- Myotonia congenita is a disorder that affects muscles used for movement (skeletal muscles). Beginning in childhood, people with this condition experience bouts ...
- ... CLCN1 gene have been identified in people with myotonia congenita. Most of these mutations cause the autosomal recessive ... mutations also cause the autosomal dominant form of myotonia congenita, which is known as Thomsen disease. Autosomal dominant ...
- ... the lower body. Unlike many other forms of myotonia, the muscle stiffness associated with paramyotonia congenita tends to worsen with repeated movements.Most people— ...
- ... prolonged muscle contractions, which underlie the episodes of myotonia characteristic of paramyotonia congenita. Muscles with sustained high levels of sodium ions ...
