Living with King Denborough syndrome
A condition with weak muscle tone from birth, bone and facial differences, and a risk of a serious reaction to certain anesthesia drugs.
Understanding King Denborough syndrome
Malignant hyperthermia is a severe reaction that can be triggered by certain medicines used in surgery. People have low muscle tone, delayed walking, joint flexibility, drooping eyelids, a high palate, curved spine, and distinctive facial features. It can be noticed during pregnancy, at birth, or in infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Low muscle tone
- Delayed walking
- Very flexible joints
- Drooping upper eyelids
- Curved spine (kyphoscoliosis)
- Undescended testes
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include bone and joint specialists, brain and nervous system specialists and genetic specialists.
- 3Consider genetic testing
Changes in RYR1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
RYR-1 Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: RYR-1 Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with RYR-1 Foundation and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Although the cause is not fully understood, some cases are attributed to the RYR1 gene. GARD lists autosomal dominant inheritance.
Also known as: kds; king-denborough syndrome; koussef nichols syndrome; koussef-nichols syndrome
Patient organizations
- RYR-1 FoundationKing Denborough syndrome · United States
- Malignant Hyperthermia Association of the United StatesKing Denborough syndrome · United States
You are more than your diagnosis
Perspectives from people navigating life with King Denborough syndrome.
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