Orpha Number: 1933
The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
| Signs and Symptoms | Approximate number of patients (when available) |
| Abnormal electroretinogram | Very frequent (present in 80%-99% of cases) |
| Abnormality of visual evoked potentials | Very frequent (present in 80%-99% of cases) |
| Aminoaciduria | Very frequent (present in 80%-99% of cases) |
| Very frequent (present in 80%-99% of cases) |
|
| Behavioral abnormality | Very frequent (present in 80%-99% of cases) |
| Cachexia | Very frequent (present in 80%-99% of cases) |
| Cerebral calcification | Very frequent (present in 80%-99% of cases) |
| Decreased nerve conduction velocity | Very frequent (present in 80%-99% of cases) |
| Delayed gross motor development | Very frequent (present in 80%-99% of cases) |
| Elevated serum creatine phosphokinase | Very frequent (present in 80%-99% of cases) |
| Generalized hirsutism | Very frequent (present in 80%-99% of cases) |
| Hyporeflexia | Very frequent (present in 80%-99% of cases) |
| Very frequent (present in 80%-99% of cases) |
|
| Methylmalonic aciduria | Very frequent (present in 80%-99% of cases) |
| Very frequent (present in 80%-99% of cases) |
|
| Very frequent (present in 80%-99% of cases) |
|
| Very frequent (present in 80%-99% of cases) |
|
| Sensorineural hearing impairment | Very frequent (present in 80%-99% of cases) |
| Skeletal muscle atrophy | Very frequent (present in 80%-99% of cases) |
| Ventriculomegaly | Very frequent (present in 80%-99% of cases) |
| Visual impairment | Very frequent (present in 80%-99% of cases) |
| Abnormality of the basal ganglia | - |
| Athetosis | - |
| - | |
| Cerebral atrophy | - |
| Decreased activity of mitochondrial respiratory chain | - |
| - | |
| Facial diplegia | - |
| Failure to thrive | - |
| Feeding difficulties in infancy | - |
| Infantile onset | - |
| Irritability | - |
| Lactic acidosis | - |
| Loss of ability to walk in early childhood | - |
| Methylmalonic acidemia | - |
| Muscular |
- |
| Ophthalmoplegia | - |
| - | |
| Progressive |
- |
| Respiratory insufficiency due to muscle weakness | - |
| - | |
| - |
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.
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.
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare 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.
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, campkm@od.nih.gov
Co-funding Institute(s): Office of Dietary Supplements, Office of Rare Diseases Research
2013 Neurobiology of Disease in Children Symposium: Mitochondrial Disease
Wednesday, October 30, 2013 -
Wednesday, October 30, 2013
Location:
Austin,
TX
Description: The topic for the 2013 NDC Symposium is Mitochondrial Disease. The NDC Symposium is a forum for preeminent investigators assembled to discuss recent accomplishments and future directions with a large group of child neurologists, program officers from the National Institutes of Health, and members of dedicated foundations and associations.
Contact:
Co-funding Institute(s): National Institute of Neurological Disorders and Stroke, Office of Rare Diseases Research
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