King–Denborough syndrome

King-Denborough Syndrome is a rare congenital myopathy characterized by hypotonia, skeletal abnormalities, and susceptibility to malignant hyperthermia. It was first described by Australian physicians, John King and David Denborough, in 1973.

Etiology

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 encodes the ryanodine receptor 1, a protein that plays a crucial role in muscle contraction. The syndrome is inherited in an autosomal recessive manner.

Clinical Features

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. Skeletal abnormalities such as pectus excavatum, joint contractures, and scoliosis are also common.

The most life-threatening aspect of the syndrome is the susceptibility to malignant hyperthermia, a severe reaction to certain drugs used during general anesthesia. This reaction can cause a rapid increase in heart rate, muscle rigidity, and a high fever that can lead to serious complications if not treated promptly.

Diagnosis

Diagnosis of King-Denborough Syndrome is based on clinical features, family history, and genetic testing. Muscle biopsy may also be performed to confirm the diagnosis.

Treatment

There is currently no cure for King-Denborough Syndrome. Treatment is symptomatic and supportive, focusing on managing the skeletal abnormalities and preventing malignant hyperthermia. Patients are advised to avoid triggering agents, such as certain anesthetics and muscle relaxants.

Prognosis

The prognosis for individuals with King-Denborough Syndrome varies. With careful management of the condition, most individuals can lead a normal life. However, the risk of malignant hyperthermia remains a significant concern.

See Also

• Congenital Myopathies
• Malignant Hyperthermia
• RYR1-Related Disorders

NIH genetic and rare disease info

• NIH info on King–Denborough syndrome

King–Denborough syndrome is a rare disease.

King–Denborough syndrome Resources
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