Living with Multiple mitochondrial dysfunctions syndrome 2
A rare condition of the cells' energy centers (mitochondria) with lost skills, seizures, and heart and muscle problems in infancy.
Understanding Multiple mitochondrial dysfunctions syndrome 2
After a period of normal development, infants can lose skills they had gained. Other features include seizures, low muscle tone, movement problems, and heart muscle disease (cardiomyopathy). Optic atrophy (damage to the nerve of the eye) may also be present. Brain scans vary and can show white matter changes.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Delayed development
- Seizures
- Breathing difficulties
- Stretched and thinned heart muscle (dilated cardiomyopathy)
- Enlarged liver
- Low energy (lethargy)
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.
- 3Consider genetic testing
Changes in BOLA3 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); 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
GARD lists changes in the BOLA3 gene. It is listed as autosomal recessive, which means a child inherits a changed copy of the gene from each parent.
Also known as: bola3 (bola family member 3) deficiency; bola3 deficiency; bola3 fatal multiple mitochondrial dysfunctions syndrome; fatal multiple mitochondrial dysfunctions syndrome caused by mutation in bola3; mmds2; mmds2 - multiple mitochondrial dysfunctions syndrome type 2
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 Multiple mitochondrial dysfunctions syndrome 2.
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