Overview
Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies is an extremely rare genetic disorder that affects the body's ability to maintain mitochondrial DNA (mtDNA). Mitochondria are the tiny power plants inside every cell that produce the energy your body needs to function. In this condition, the amount of mitochondrial DNA drops severely, which means cells cannot produce enough energy. This particularly affects the brain (encephalo-) and muscles (-myopathic), leading to progressive neurological problems and muscle weakness. A distinctive feature of this form is that some affected individuals also develop craniofacial anomalies, meaning differences in the shape or structure of the skull and face. Symptoms typically appear in infancy or early childhood and may include poor muscle tone (hypotonia), difficulty feeding, developmental delays, seizures, and progressive loss of previously acquired skills. Craniofacial features can vary widely between individuals and may include a small head, unusual facial features, or other structural differences. Some children also experience hearing loss, vision problems, or liver dysfunction. There is currently no cure for this condition. Treatment is supportive and focuses on managing symptoms, preventing complications, and improving quality of life. This may include physical therapy, seizure management, nutritional support, and monitoring of organ function. Research into mitochondrial diseases is ongoing, and families are encouraged to connect with specialists who understand these complex conditions.
Also known as:
Key symptoms:
Severe muscle weakness and low muscle toneDevelopmental delay or regressionSeizuresDifficulty feeding or swallowingAbnormal facial features or skull shapeSmall head size (microcephaly)Hearing lossVision problemsLiver dysfunctionFailure to thrive or poor growthBreathing difficultiesMovement problems or involuntary movementsLactic acidosis (buildup of lactic acid in the blood)Loss of previously learned skills
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Infantile
Begins in infancy, roughly 1 month to 2 years old
FDA & Trial Timeline
1 eventKenneth Myers, MD — PHASE2
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
No FDA-approved treatments are currently listed for Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies.
1 clinical trialare actively recruiting — trials can provide access to cutting-edge therapies.
View clinical trials →Specialists
View all specialists →No specialists are currently listed for Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies.
Community
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Start the conversation →Latest news about Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies
1 articlesCaregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.What specific gene mutation is causing my child's condition, and what does that mean for their outlook?,What symptoms should I watch for that would require emergency medical attention?,Are there any supplements or medications that might help support my child's mitochondrial function?,What therapies (physical, occupational, speech) would benefit my child the most right now?,Are there any clinical trials or research studies my child might be eligible for?,Should other family members be tested to see if they carry the gene mutation?,Can you help us connect with a palliative care team to support our family's quality of life?
Common questions about Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies
What is Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies?
Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies is an extremely rare genetic disorder that affects the body's ability to maintain mitochondrial DNA (mtDNA). Mitochondria are the tiny power plants inside every cell that produce the energy your body needs to function. In this condition, the amount of mitochondrial DNA drops severely, which means cells cannot produce enough energy. This particularly affects the brain (encephalo-) and muscles (-myopathic), leading to progressive neurological problems and muscle weakness. A distinctive feature of t
How is Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies inherited?
Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies typically begin?
Typical onset of Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies is infantile. Age of onset can vary across affected individuals.
Are there clinical trials for Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies?
Yes — 1 recruiting clinical trial is currently listed for Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.