National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Multiple mitochondrial dysfunctions syndrome


Other Names:
Fatal multiple mitochondrial dysfunction syndrome; Fatal multiple mitochondrial dysfunctions syndrome
This disease is grouped under:
Multiple mitochondrial dysfunctions syndrome (MMDS) is a severe condition that affects the energy-producing structures of cells (called the mitochondria). Signs and symptoms of this condition generally develop early in life and may include encephalopathy, hypotonia (poor muscle tone), seizures, developmental delay, failure to thrive, lactic acidosis and a variety of other health problems. Due to the severity of the condition, most affected babies do not live past infancy. MMDS can be caused by changes (mutations) in the NFU1 gene or the BOLA3 gene. In these cases, the condition is inherited in an autosomal recessive manner.[1] Treatment is based on the signs and symptoms present in each person.[2]
Last updated: 6/16/2015

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
Learn More:
HPO ID
5%-29% of people have these symptoms
Ataxia 0001251
Myoclonus 0001336
Optic atrophy 0000648
Visual impairment
Impaired vision
Loss of eyesight
Poor vision
[ more ] 		0000505
1%-4% of people have these symptoms
Seizure 0001250
Percent of people who have these symptoms is not available through HPO
Abnormality of extrapyramidal motor function 0002071
Abnormality of mitochondrial metabolism 0003287
Abnormality of the periventricular white matter 0002518
Absent speech
Absent speech development
Lack of language development
Lack of speech
No speech development
No speech or language development
Nonverbal
[ more ] 		0001344
Arthrogryposis multiplex congenita 0002804
Autosomal recessive inheritance 0000007
Cerebral atrophy
Degeneration of cerebrum
0002059
Cognitive impairment
Abnormality of cognition
Cognitive abnormality
Cognitive defects
Cognitive deficits
Intellectual impairment
Mental impairment
[ more ] 		0100543
Congenital onset
Symptoms present at birth
0003577
Death in infancy
Infantile death
Lethal in infancy
[ more ] 		0001522
Decreased activity of mitochondrial respiratory chain 0008972
Developmental regression
Loss of developmental milestones
Mental deterioration in childhood
[ more ] 		0002376
Dilated cardiomyopathy
Stretched and thinned heart muscle
0001644
Edema
Fluid retention
Water retention
[ more ] 		0000969
Encephalopathy 0001298
Epileptic encephalopathy 0200134
Failure to thrive
Faltering weight
Weight faltering
[ more ] 		0001508
Feeding difficulties
Feeding problems
Poor feeding
[ more ] 		0011968
Generalized hypotonia
Decreased muscle tone
Low muscle tone
[ more ] 		0001290
Global developmental delay 0001263
Hepatomegaly
Enlarged liver
0002240
High palate
Elevated palate
Increased palatal height
[ more ] 		0000218
Hyperreflexia
Increased reflexes
0001347
Hypertension 0000822
Hypertrophic cardiomyopathy
Enlarged and thickened heart muscle
0001639
Hypoplasia of the corpus callosum
Underdevelopment of part of brain called corpus callosum
0002079
Infantile onset
Onset in first year of life
Onset in infancy
[ more ] 		0003593
Intrauterine growth retardation
Prenatal growth deficiency
Prenatal growth retardation
[ more ] 		0001511
Irritability
Irritable
0000737
Lactic acidosis
Increased lactate in body
0003128
Lethargy 0001254
Leukodystrophy 0002415
Metabolic acidosis 0001942
Microcephaly
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ] 		0000252
Muscle weakness
Muscular weakness
0001324
Nystagmus
Involuntary, rapid, rhythmic eye movements
0000639
Polyhydramnios
High levels of amniotic fluid
0001561
Polymicrogyria
More grooves in brain
0002126
Poor head control 0002421
Progressive
Worsens with time
0003676
Psychomotor retardation 0025356
Pulmonary arterial hypertension
Increased blood pressure in blood vessels of lungs
0002092
Recurrent fever
Episodic fever
Increased body temperature, episodic
Intermittent fever
[ more ] 		0001954
Respiratory failure 0002878
Retrognathia
Receding chin
Receding lower jaw
Weak chin
Weak jaw
[ more ] 		0000278
Severe muscular hypotonia
Severely decreased muscle tone
0006829
Spastic tetraplegia 0002510
Spasticity
Involuntary muscle stiffness, contraction, or spasm
0001257
Variable expressivity 0003828
Vegetative state 0031358
Vomiting
Throwing up
0002013
Wide intermamillary distance
Wide-spaced nipples
Widely spaced nipples
Widely-spaced nipples
[ more ] 		0006610
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Last updated: 7/1/2020

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • ClinicalTrials.gov lists trials that are related to Multiple mitochondrial dysfunctions syndrome. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

    Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.

Patient Registry

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • Boston Children's Hospital provides an information page on Multiple mitochondrial dysfunctions syndrome. Click on the link above to access this information.
  • Genetics Home Reference (GHR) contains information on Multiple mitochondrial dysfunctions syndrome. This website is maintained by the National Library of Medicine.
  • The Cleveland Clinic Web site has an information page on Multiple mitochondrial dysfunctions syndrome. Click on the Cleveland Clinic link to view this page.

In-Depth Information

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
    Multiple Mitochondrial Dysfunctions Syndrome 1
    Multiple Mitochondrial Dysfunctions Syndrome 2
    Multiple Mitochondrial Dysfunctions Syndrome 3
    Multiple Mitochondrial Dysfunctions Syndrome 4
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Multiple mitochondrial dysfunctions syndrome. Click on the link to view a sample search on this topic.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

  1. Multiple mitochondrial dysfunctions syndrome. Genetics Home Reference. May 2015; http://ghr.nlm.nih.gov/condition/multiple-mitochondrial-dysfunctions-syndrome.
  2. Patrick F Chinnery, PhD, FRCPath, FRCP, FMedSci. Mitochondrial Disorders Overview. GeneReviews. August 2014; http://www.ncbi.nlm.nih.gov/books/NBK1224/.