Living with Mitochondrial DNA depletion syndrome 8a
A rare mitochondrial condition that starts in newborns or infants, with weak muscles, slow growth, and kidney problems.
Understanding Mitochondrial DNA depletion syndrome 8a
It usually starts in newborns or infants and can cause weak muscles, slow growth, lactic acid buildup, and developmental delay. It can lead to breathing and digestive problems. Some babies have milder symptoms. Other symptoms may include hearing loss, small head size, seizures, vision problems, and kidney problems.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Low muscle tone in the trunk
- Kidney tube problems (proximal tubulopathy)
- Slow growth
- Lactic acid buildup
- Delays in reaching developmental milestones
- Breathing and digestive problems
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, digestive system specialists and genetic specialists.
- 3Consider genetic testing
Changes in RRM2B 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 and MitoAction may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); 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
This condition is caused by changes in the RRM2B gene. It is autosomal recessive, which means a child inherits a changed copy of the gene from each parent.
Also known as: mitochondrial dna depletion syndrome 8a (encephalomyopathic type with renal tubulopathy); mitochondrial dna depletion syndrome 8a encephalomyopathic type with renal tubulopathy; mitochondrial dna depletion syndrome caused by mutation in rrm2b; mitochondrial dna depletion syndrome type 8a; mitochondrial dna depletion syndrome, encephalomyopathic form with renal tubulopathy; mitochondrial dna depletion syndrome, encephalomyopathic form, with renal tubulopathy
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 8a.
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