Living with Deafness-encephaloneuropathy-obesity-valvulopathy syndrome
A rare mitochondrial condition that can affect hearing, the brain and nerves, kidneys, weight, and heart valves.
Understanding Deafness-encephaloneuropathy-obesity-valvulopathy syndrome
It varies a lot from person to person. Features can include brain and muscle problems, kidney disease (nephrotic syndrome), optic nerve damage, hearing loss early in life, low blood cell counts, obesity, and heart valve disease. GARD lists onset in the newborn or infant period.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Hearing loss
- Optic nerve damage (optic atrophy)
- Obesity or being overweight
- Heart valve leaking (aortic or mitral regurgitation)
- Nerve problems in the arms and legs (peripheral neuropathy)
- Larger head size (macrocephaly)
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 and seizure and epilepsy specialists.
- 3Consider genetic testing
Changes in PDSS1 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
Epilepsy Foundation, United Mitochondrial Disease Foundation and MitoAction may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists); Seizure and epilepsy specialists (epileptologist)
- Expert care
- Expert lists: Epilepsy Foundation, United Mitochondrial Disease Foundation, MitoAction
- 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 Epilepsy 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 PDSS1 gene cause this condition. GARD lists autosomal recessive and mitochondrial inheritance.
Also known as: coenzyme q10 deficiency, primary, type 2; hearing loss-encephaloneuropathy-obesity-valvulopathy syndrome; pdss1-related coenzyme q10 deficiency
Patient organizations
- 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 Deafness-encephaloneuropathy-obesity-valvulopathy syndrome.
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