King Denborough syndrome

From WikiMD's Food, Medicine & Wellness Encyclopedia

Alternate names

Anesthetic-induced malignant hyperpyrexia in children; King syndrome

Definition

The King-Denborough syndrome (KDS) is a congenital myopathy associated with susceptibility to malignant hyperthermia, skeletal abnormalities and dysmorphic features with characteristic facial appearance.

Cause

Although the cause of King-Denborough syndrome is not fully understood, at least some cases have been attributed to the ryanodine receptor gene (RYR1), which has been tied to malignant hyperthermia and central core disease.

Inheritance

Autosomal dominant pattern, a 50/50 chance.

The presence of a myopathy associated with a prediposition to malignant hyperthermia suggests an autosomal dominant pattern of inheritance with variable expression (the altered gene is expressed in different ways in different people).

NIH genetic and rare disease info

King Denborough syndrome is a rare disease.


Resources

Frequently asked questions

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