Living with Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome
A rare mitochondrial condition that can affect the brain, heart, and kidneys, starting in the newborn period.
Understanding Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome
Mitochondria are the parts of cells that make energy. In this condition, the body has a defect in making coenzyme Q10. Symptoms are broad and can involve the brain, the heart, and the kidneys. They are seen in newborns. Brain scans may show shrinking of parts of the brain.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Seizures
- Delays in development (global developmental delay)
- Thickened heart muscle (left ventricular hypertrophy)
- Muscle stiffness or movement problems (dystonia, hypertonia)
- Shrinking of parts of the brain (cerebral and cerebellar atrophy)
- Feeding difficulties
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 brain and nervous system specialists, genetic specialists, heart and blood vessel specialists and seizure and epilepsy specialists.
- 3Consider genetic testing
Changes in COQ9 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
Children's Cardiomyopathy Foundation, Epilepsy Foundation and United Mitochondrial Disease Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists); Heart and blood vessel specialists (cardiologists); Seizure and epilepsy specialists (epileptologist)
- Expert care
- Expert lists: Children's Cardiomyopathy Foundation, Epilepsy Foundation, United Mitochondrial Disease 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 Children's Cardiomyopathy 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
Changes in the COQ9 gene cause this condition. It is autosomal recessive, which means a child inherits a changed copy of the gene from each parent. GARD also lists mitochondrial inheritance.
Also known as: coenzyme q10 deficiency, primary, type 5; coq9-related coenzyme q10 deficiency
Patient organizations
- Children's Cardiomyopathy FoundationCardiomyopathy · United States
- Epilepsy FoundationEpilepsy · United States
- United Mitochondrial Disease FoundationMitochondrial diseases · United States
- MitoActionMitochondrial diseases · United States
- The Foundation for Peripheral NeuropathyPeripheral neuropathy · United States
- Neuropathy Action FoundationPeripheral neuropathy · United States
You are more than your diagnosis
Perspectives from people navigating life with Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome.
Explore research for Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome
Explore actively recruiting Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome studies with HealthSpark.
Find actively recruiting studies for Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
Powered by HealthSpark, our AI chat helper
I can help you find recruiting Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.