which belief
emerged due to thomsen findina
Answers
Answer:
Myotonia congenita is a congenital neuromuscular channelopathy that affects skeletal muscles (muscles used for movement). It is a genetic disorder. The hallmark of the disease is the failure of initiated contraction to terminate, often referred to as delayed relaxation of the muscles (myotonia) and rigidity.[1] Symptoms include delayed relaxation of the muscles after voluntary contraction (myotonia), and may also include stiffness, hypertrophy (enlargement), transient weakness in some forms of the disorder (from certain genetic mutations), severe masseter spasm, and cramping. The condition is sometimes referred to as fainting goat syndrome, as it is responsible for the eponymous 'fainting' seen in fainting goats when presented with a sudden stimulus. Of note, myotonia congenita has no association with malignant hyperthermia (MH).
Myotonia congenita
Other names
Congenital myotonia, Thomsen syndrome, Becker syndrome
Specialty
Neurology
Symptoms
Delayed relaxation of muscles, falls, difficulty swallowing
Usual onset
Childhood
Types
Autosomal dominant (Thomsen disease), autosomal recessive (Becker disease)
Causes
Genetic, CLCN1 mutations
Diagnostic method
Clinical, genetic testing
Differential diagnosis
Myotonic dystrophy, Paramyotonia congenita
Treatment
Physiotherapy, medication
Medication
quinine, phenytoin, carbamazepine, mexiletine
Frequency
1 in 10,000 (Finland) - 1 in 1,000,000 (worldwide)