Living with Mitochondrial DNA depletion syndrome
A group of mitochondrial conditions in which cells have too little mitochondrial DNA, affecting muscles, gut, brain, and liver.
Understanding Mitochondrial DNA depletion syndrome
Mitochondria are the structures that make energy for our cells. In these conditions there are fewer copies of mitochondrial DNA in affected tissues. They can affect one or more organs, such as the muscles, stomach and intestines, brain, and liver. The group includes several rare genetic diseases, such as Alpers syndrome and early-onset spastic ataxia-neuropathy syndrome. It can start at any time in life.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet.
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 digestive 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
- Digestive system specialists (gastroenterologists); 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 (also called variants) lower the amount of mitochondrial DNA in affected tissues. GARD lists mitochondrial inheritance but does not name a gene in this record.
Also known as: depletion of mitochondrial deoxyribonucleic acid; depletion of mitochondrial dna; mitochondrial dna depletion; mtdna depletion 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 Mitochondrial DNA depletion syndrome.
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