Living with Multiple mitochondrial dysfunctions syndrome 1
A rare condition of the cells' energy centers (mitochondria) that affects the brain, muscles, lungs, and heart from infancy.
Understanding Multiple mitochondrial dysfunctions syndrome 1
This condition affects the brain, muscles, lungs, and sometimes the heart. Babies may have trouble gaining weight, low muscle tone, developmental delay, and loss of skills they had learned. Lung blood pressure can be high, and breathing may be affected. Brain scans may show changes in white matter.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Trouble gaining weight (failure to thrive)
- Feeding difficulties
- Delayed development
- Loss of skills (developmental regression)
- Muscle weakness and low muscle tone
- High blood pressure in the lungs
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 NFU1 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 NFU1 gene. It is listed as autosomal recessive, which means a child inherits a changed copy of the gene from each parent.
Also known as: fatal multiple mitochondrial dysfunctions syndrome caused by mutation in nfu1; mmds1; mmds1 - multiple mitochondrial dysfunctions syndrome type 1; multiple mitochondrial dysfunctions syndrome type 1; nfu1 (nfu1 iron-sulfur cluster scaffold) deficiency; nfu1 deficiency
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 1.
Explore research for Multiple mitochondrial dysfunctions syndrome 1
Explore actively recruiting Multiple mitochondrial dysfunctions syndrome 1 studies with HealthSpark.
Find actively recruiting studies for Multiple mitochondrial dysfunctions syndrome 1 with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
Powered by HealthSpark, our AI chat helper
I can help you find recruiting Multiple mitochondrial dysfunctions syndrome 1 studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for Multiple mitochondrial dysfunctions syndrome 1
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your Multiple mitochondrial dysfunctions syndrome 1 experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.