Living with Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
A rare condition of the cells' energy centers (mitochondria) that starts in newborns, with heart, brain, and breathing problems.
Understanding Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
It causes serious heart and/or nervous system signs in newborns. A milder form with later onset and slowly worsening nervous system decline has also been reported. Features vary and include breathing trouble, low muscle tone, heart muscle disease, and seizures. Blood lactate is raised in most cases.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Breathing trouble (respiratory insufficiency)
- Pauses in breathing (apnea)
- Low muscle tone
- Thickened heart muscle (hypertrophic cardiomyopathy)
- Seizures
- 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 COQ4 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
United Mitochondrial Disease Foundation, Children's Cardiomyopathy Foundation and Epilepsy 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: United Mitochondrial Disease Foundation, Children's Cardiomyopathy Foundation, Epilepsy 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 United Mitochondrial Disease 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
GARD lists changes in the COQ4 gene. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: coenzyme q10 deficiency, primary, 7; coenzyme q10 deficiency, primary, type 7; coenzyme q4-related neonatal encephalomyopathy; coq4-related neonatal encephalomyopathy; neonatal encephalomyopathy, cardiomyopathy, respiratory distress syndrome
Patient organizations
- United Mitochondrial Disease FoundationNeonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome · United States
- Children's Cardiomyopathy FoundationCardiomyopathy · United States
- Epilepsy FoundationEpilepsy · United States
- MitoActionMitochondrial diseases · United States
- The Foundation for Peripheral NeuropathyPeripheral neuropathy · United States
- Neuropathy Action FoundationPeripheral neuropathy · United States
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