Living with Fatal multiple mitochondrial dysfunctions syndrome
A severe condition in infants in which the energy-making parts of cells work poorly, affecting the brain, growth, and sometimes the heart and lungs.
Understanding Fatal multiple mitochondrial dysfunctions syndrome
Signs begin early in life. Infants typically have severe brain dysfunction (encephalopathy), which can cause weak muscle tone, seizures, and delayed development. Many have trouble growing and a buildup of lactic acid. Some also have high blood pressure in the lungs' blood vessels or a weakened heart muscle.
Signs & symptoms
GARD doesn't list a separate symptom list. Its summary describes:
- Brain dysfunction (encephalopathy)
- Weak muscle tone (hypotonia)
- Seizures
- Delayed development
- Slow growth and weight gain
- Lactic acid buildup (lactic acidosis)
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 and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
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)
- Expert care
- Expert lists: 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 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
Changes in genes cause it. GARD lists autosomal recessive and mitochondrial inheritance but doesn't name a gene.
Also known as: mmds - multiple mitochondrial dysfunctions syndrome; multiple mitochondrial dysfunctions syndrome
Patient organizations
- United Mitochondrial Disease FoundationMitochondrial diseases · United States
- MitoActionMitochondrial diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Fatal multiple mitochondrial dysfunctions syndrome.
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