Multiple mitochondrial dysfunctions syndrome

Title

Other Names:

Fatal multiple mitochondrial dysfunction syndrome; Fatal multiple mitochondrial dysfunctions syndrome

This disease is grouped under:

Lipoic acid biosynthesis defects

Summary Summary

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

Symptoms Symptoms

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
1%-4% of people have these symptoms
Seizures	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
Optic atrophy		0000648
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
Visual impairment	Impaired vision Loss of eyesight Poor vision [ more ]	0000505
Vomiting	Throwing up	0002013
Wide intermamillary distance	Wide-spaced nipples Widely spaced nipples Widely-spaced nipples [ more ]	0006610

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Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 3/1/2020

Do you have updated information on this disease? We want to hear from you.

Diagnosis Diagnosis

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.

Find a Specialist Find a Specialist

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

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Research Research

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

A registry supports research by collecting of information about patients that share something in common, such as being diagnosed with Multiple mitochondrial dysfunctions syndrome. The type of data collected can vary from registry to registry and is based on the goals and purpose of that registry. Some registries collect contact information while others collect more detailed medical information. Learn more about registries.

Registries for Multiple mitochondrial dysfunctions syndrome:
North American Mitochondrial Disease Consortium (NAMDC) Contact Registry
Mitochondrial Disease Community Registry

Organizations Organizations

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

MitoAction
PO Box 51474
Boston, MA 02205
Toll-free: 1-888-648-6228
Telephone: 1-888-MITO-411 (648-6411) for support line
E-mail: info@mitoaction.org
Website: https://www.mitoaction.org/
United Mitochondrial Disease Foundation
8085 Saltsburg Road, Suite 201
Pittsburgh, PA 15239
Toll-free: 1-888-317-8633
Telephone: +1-412-793-8077
Fax: +1-412-793-6477
E-mail: info@umdf.org
Website: https://www.umdf.org

Do you know of an organization? We want to hear from you.

Learn More Learn More

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.

GARD Answers GARD Answers

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.

Have a question? Contact a GARD Information Specialist.

References References

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

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