Overview
Multiple mitochondrial dysfunctions syndrome type 6 (MMDS6) is a very rare and serious inherited condition that affects the mitochondria — the tiny structures inside your cells that produce energy. When mitochondria do not work properly, the body cannot make enough energy to keep organs and tissues running normally. MMDS6 is caused by changes (mutations) in the ISCA1 gene, which plays an important role in building proteins that help mitochondria function correctly. This condition mainly affects the brain and nervous system, causing problems that often appear in early infancy. Babies with MMDS6 may show signs of brain damage, severe developmental delays, and muscle weakness very early in life. The brain's white matter — the tissue that helps nerve signals travel — is often damaged, a finding doctors call leukoencephalopathy. Other organs that need a lot of energy, such as the heart and muscles, can also be affected. Currently, there is no cure for MMDS6. Treatment focuses on managing symptoms and supporting the child's quality of life. This may include physical therapy, nutritional support, and medications to address specific problems as they arise. Because this disease is so rare, research is still in early stages, and families often rely on specialized metabolic and neurological care teams.
Also known as:
Key symptoms:
Severe developmental delay or regression (losing skills already learned)Muscle weakness (hypotonia)Brain white matter damage (leukoencephalopathy)SeizuresBreathing difficultiesPoor feeding in infancyAbnormal eye movements or vision problemsElevated lactic acid in the blood (lactic acidosis)Heart muscle problems (cardiomyopathy)Failure to thrive or poor weight gainReduced or absent voluntary movement
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
Treatments
No FDA-approved treatments are currently listed for Multiple mitochondrial dysfunctions syndrome type 6.
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Specialists
View all specialists →No specialists are currently listed for Multiple mitochondrial dysfunctions syndrome type 6.
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 Multiple mitochondrial dysfunctions syndrome type 6.
Community
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Caregiver 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 changes were found in the ISCA1 gene, and what do they mean for my child's prognosis?,Should other family members be tested, and what are the chances of this happening in a future pregnancy?,What symptoms should prompt me to go to the emergency room immediately?,Are there any clinical trials or research studies my child might be eligible for?,What therapies — physical, occupational, or speech — would benefit my child most right now?,When should we involve palliative care, and what does that look like for a child with this condition?,Are there any supplements or vitamins that might help, and are there any that could be harmful?
Common questions about Multiple mitochondrial dysfunctions syndrome type 6
What is Multiple mitochondrial dysfunctions syndrome type 6?
Multiple mitochondrial dysfunctions syndrome type 6 (MMDS6) is a very rare and serious inherited condition that affects the mitochondria — the tiny structures inside your cells that produce energy. When mitochondria do not work properly, the body cannot make enough energy to keep organs and tissues running normally. MMDS6 is caused by changes (mutations) in the ISCA1 gene, which plays an important role in building proteins that help mitochondria function correctly. This condition mainly affects the brain and nervous system, causing problems that often appear in early infancy. Babies with MMDS
How is Multiple mitochondrial dysfunctions syndrome type 6 inherited?
Multiple mitochondrial dysfunctions syndrome type 6 follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Multiple mitochondrial dysfunctions syndrome type 6 typically begin?
Typical onset of Multiple mitochondrial dysfunctions syndrome type 6 is infantile. Age of onset can vary across affected individuals.