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)|
|Autosomal recessive inheritance||-|
|Decreased activity of cytochrome C oxidase in muscle tissue||-|
|Distal muscle weakness||-|
|Elevated serum creatine phosphokinase||-|
|EMG: myopathic abnormalities||-|
|Impaired distal proprioception||-|
|Impaired distal vibration sensation||-|
|Increased CSF protein||-|
|Increased variability in muscle fiber diameter||-|
|Mildly elevated creatine phosphokinase||-|
|Mitral valve prolapse||-|
|Multiple mitochondrial DNA deletions||-|
|Muscle fiber necrosis||-|
|Positive Romberg sign||-|
|Progressive external ophthalmoplegia||-|
|Proximal muscle weakness||-|
|Ragged-red muscle fibers||-|
|Respiratory insufficiency due to muscle weakness||-|
|Sensory ataxic neuropathy||-|
|Sensory axonal neuropathy||-|
|Subsarcolemmal accumulations of abnormally shaped mitochondria||-|
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.
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 Challenges in the High-Risk Infant Monday, September 14, 2009 -
Tuesday, September 15, 2009
Location: DC Metro Area,
Description: Evidence was critically evaluated at this workshop. Current gaps in knowledge in this area were identified and research priorities were formulated. The workshop summary will provide NICHD and the scientific community a template to address the scientific and clinical issues related to nutrition and neonatal care.
Contact: Dr. Rosemary D. Higgins, NICHD 301-435-7909
Co-funding Institute(s): National Institute of Child Health and Human Development
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.