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Home > West Medicine > Pediatrics > Pediatric Internal Med

Classroom classification

百科

Congenital myotonic syndrome in children

儿科综合

Common symptoms

眼睑痉挛、肢体僵硬感、肌肉挛缩、肌肉肥大

The pathology of disease

Congenital myotonic syndrome in children (myotonia congenita) is chloride channelopathy; delayed muscle relaxation; children; autosomal dominant/recessive; Thomsen/Becker; children; supportive; avoid cold; pediatric neurology.

Symptoms

Delayed muscle relaxation; child; known AD/AR; Thomsen/Becker; supportive; avoid cold

Causes

CLCN1 mutation; myotonia congenita; child.

Treatment

Avoid cold/strenuous; mexiletine selected; PT; pediatric neurology; genetic counseling

Dept

Pediatric neurology / pediatrics / medical genetics.

Warm reminder: Health education reference only; seek care at regular hospital.

Family room

儿科综合Overview of the Western Medical Room