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Disease Profile
Mitochondrial genetic disorders
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
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Age of onset
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ICD-10
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Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
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Categories
Congenital and Genetic Diseases
Summary
Mitochondrial genetic disorders refer to a group of conditions that affect the
Symptoms
- Poor growth
- Loss of muscle coordination
- Muscle weakness
Seizures Autism - Problems with vision and/or hearing
Developmental delay - Learning disabilities
- Heart, liver, and/or
kidney disease - Gastrointestinal disorders
- Diabetes
- Increased risk of infection
- Thyroid and/or adrenal abnormalities
- Autonomic dysfunction
Dementia
The United
Cause
When the mitochondria are not working properly, the body does not have enough energy to carry out its normal functions. This can lead to the variety of health problems associated with mitochondrial genetic disorders.[1][2]
Diagnosis
If a mitochondrial genetic disorder is suspected but the signs and symptoms do not suggest a specific diagnosis, a more extensive work-up may be required. In these cases, a physician may start by evaluating the levels of certain substances in a sample of blood or cerebrospinal fluid. Other tests that can support a diagnosis include:[1]
- Exercise testing
- Magnetic resonance spectroscopy (detects abnormalities in the brain's chemical makeup)
Imaging studies of the brain such asMRI orCT scan - Electroencephalography (EEG)
- Tests that evaluate the heart including electrocardiography and echocardiography
- Muscle biopsy
When possible, confirming a diagnosis with genetic testing can have important implications for family members. Identifying the disease-causing gene(s) will give the family information about the inheritance pattern and the risk to other family members. It will also allow other at-risk family members to undergo genetic testing.[1]
For more information regarding the diagnosis of mitochondrial genetic disorders, please visit the United
GeneReviews also provides information on establishing a diagnosis of a mitochondrial disorder. Click on the link to view the article on this topic.
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.
Treatment
For more general information about the treatment of mitochondrial genetic disorders, please visit GeneReviews.
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 Providing General Support
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MitoAction
PO Box 310
Novi, MI 48376
Toll-free: 888-648-6228
E-mail: [email protected]
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: [email protected]
Website: https://www.umdf.org
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
- MitoAction provides information on this condition for patients and caregivers.
- The Cleveland Clinic Web site has an information page on Mitochondrial genetic disorders. Click on the Cleveland Clinic link to view this page.
- The United Mitochondrial Disease Foundation has an information page on Mitochondrial genetic disorders.
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.
- MitoAction provides information on this condition for health care professionals.
- Nature Education’s Scitable provides a comprehensive explanation of mitochondrial DNA and the conditions that can be associated with mitochondrial DNA
mutations. - PubMed is a searchable database of medical literature and lists journal articles that discuss Mitochondrial genetic disorders. Click on the link to view a sample search on this topic.
References
- Patrick F Chinnery, PhD, FRCPath, FRCP, FMedSci. Mitochondrial Disorders Overview. GeneReviews. August 2014; https://www.ncbi.nlm.nih.gov/books/NBK1224/.
- About Mitochondrial Disease Mito FAQ. MitoAction. https://www.mitoaction.org/mito-faq. Accessed 1/26/2015.
- Vento JM, Pappa B. Genetic counseling in mitochondrial disease. Neurotherapeutics. April 2013; 10(2):243-250. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3625385/.
- Treatments & Therapies. United Mitochondrial Disease Foundation. https://www.umdf.org/site/c.otJVJ7MMIqE/b.5692887/k.6686/Treatments__Therapies.htm. Accessed 4/3/2011.
- Getting a Diagnosis. United Mitochondrial Disease Foundation. https://www.umdf.org/site/pp.aspx?c=8qKOJ0MvF7LUG&b=7934633. Accessed 1/26/2015.
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