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.
|Medical Terms||Other Names||
|80%-99% of people have these symptoms|
Bloating[ more ]
Pain in stomach
Stomach pain[ more ]
|Atrophic muscularis propria||0025149|
Swallowing difficulty[ more ]
Acid reflux disease
Heartburn[ more ]
|Small intestinal dysmotility||0012850|
|30%-79% of people have these symptoms|
|Abnormality of the cerebral white matter||0002500|
|Abnormality of the extraocular muscles||0008049|
|Abnormality of the hand||
Hand deformities[ more ]
|Abnormality of the mitochondrion||0012103|
|Decreased motor nerve conduction velocity||0003431|
|Decreased number of large peripheral myelinated nerve fibers||0003387|
|Decreased sensory nerve conduction velocity||0003448|
|Distal muscle weakness||
Weakness of outermost muscles
|Elevated hepatic transaminase||
High liver enzymes
|Foot dorsiflexor weakness||
Increased blood alanine
Increased serum alanine[ more ]
Increased lactate in body
Pins and needles feeling
Tingling[ more ]
|Peripheral axonal neuropathy||0003477|
Drooping upper eyelid
|Ragged-red muscle fibers||0003200|
|Sensorineural hearing impairment||0000407|
|5%-29% of people have these symptoms|
Low number of red blood cells or hemoglobin
Scar tissue replaces healthy tissue in the liver
|Decreased muscle mass||
Mental retardation, nonspecific
Mental-retardation[ more ]
|Macrovesicular hepatic steatosis||0001403|
|1%-4% of people have these symptoms|
Progressive dementia[ more ]
|Percent of people who have these symptoms is not available through HPO|
Absent tendon reflexes
|Cytochrome C oxidase-negative muscle fibers||0003688|
|Death in early adulthood||0100613|
Distal muscle wasting
|Distal sensory impairment||
Decreased sensation in extremities
Delayed gastric emptying
|Hypointensity of cerebral white matter on
Worsens with time
|Progressive external ophthalmoplegia||0000590|
|Subsarcolemmal accumulations of abnormally shaped
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.
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
Conditions with similar signs and symptoms from Orphanet
Differential diagnoses include similar disorders with phenotypes that overlap between MNGIE and MELAS, MERRF or progressive external ophthalmoplegia (PEO; see these terms), for example patients with prominent gastrointestinal symptoms and genetic alterations either in the mitochondrial DNA (such as the MT-TL1 or MT-TK genes with the m.3243A>G ``MELAS'' mutation or the m.8313G>A ``MERRF'' mutation) or in the nuclear POLG gene encoding DNA polymerase gamma (responsible for mitochondrial DNA replication and implicated in PEO).
Visit the Orphanet disease page for more information.
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.
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.
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.
Nutritional Interventions in Primary Mitochondrial Disorders: Developing an Evidence Base
Tuesday, December 2, 2014 -
Wednesday, December 3, 2014
Location: NIH Campus, Bethesda, MD
Description: The goal of this meeting is to explore the use of nutritional interventions, including dietary supplements, in primary mitochondrial disorders (PMD); identify gaps in knowledge; develop a research agenda; and identify research opportunities to promote an evidence base for the use of nutritional interventions in primary mitochondrial disorders.
Contact: Kathryn Camp, MS, RD, CSP,(301) 435-3608, firstname.lastname@example.org
Co-funding Institute(s): Office of Dietary Supplements, Office of Rare Diseases Research
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. Submit a new question
My daughter has all of the symptoms of MNGIE. She had a muscle biopsy and it came back normal. The geneticist that she saw said further testing is not necessary; is this correct? What can I do to help manage all of her issues? See answer
My doctor thinks I may have MNGIE.What tests can be performed to diagnosis this condition? See answer