Question

which belief
emerged due to thomsen findina​

Answer 1

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)