King-Denborough syndrome

King-Denborough Syndrome is a rare congenital disorder characterized by malignant hyperthermia, muscular dystrophy, and distinctive facial features. It was first described by Australian pediatricians, John King and Michael Denborough, in 1973.

Etiology[edit | edit source]

The exact cause of King-Denborough Syndrome is not fully understood. However, it is believed to be associated with mutations in the RYR1 gene, which provides instructions for making a protein involved in muscle contraction. This gene mutation is also linked to malignant hyperthermia, a severe reaction to certain drugs used during general anesthesia.

Clinical Features[edit | edit source]

Patients with King-Denborough Syndrome typically present with a distinctive facial appearance, including a narrow, elongated face, down-slanting palpebral fissures, a high-arched palate, and a small jaw. Other physical characteristics may include a short neck, broad chest, and joint contractures.

The syndrome is also associated with muscular dystrophy, leading to progressive muscle weakness and wasting. Affected individuals may have delayed motor development, and some may never achieve independent ambulation.

One of the most serious aspects of King-Denborough Syndrome is the susceptibility to malignant hyperthermia, a potentially fatal reaction to certain anesthetic drugs. Symptoms of malignant hyperthermia include a high fever, muscle rigidity, and a rapid heart rate.

Diagnosis[edit | edit source]

Diagnosis of King-Denborough Syndrome is based on clinical features, family history, and genetic testing. The caffeine-halothane contracture test can be used to assess susceptibility to malignant hyperthermia.

Treatment[edit | edit source]

There is currently no cure for King-Denborough Syndrome. Treatment is symptomatic and supportive, and may include physical therapy for muscle weakness, and avoidance of triggering agents for malignant hyperthermia.

Prognosis[edit | edit source]

The prognosis for individuals with King-Denborough Syndrome varies. Some individuals may have a normal lifespan with mild symptoms, while others may experience severe muscle weakness and life-threatening reactions to anesthesia.

NIH genetic and rare disease info[edit source]

NIH info on King-Denborough syndrome

King-Denborough syndrome is a rare disease.

King-Denborough syndrome Resources
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