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 | Learn More: HPO ID |
|---|---|---|
| 80%-99% of people have these symptoms | ||
| Muscle weakness |
Muscular weakness
|
0001324 |
| Reduced carnitine O-palmitoyltransferase level | 0012380 | |
| 30%-79% of people have these symptoms | ||
| Decreased plasma free carnitine | 0008315 | |
| Decreased plasma total carnitine | 0011936 | |
| Elevated plasma acylcarnitine levels | 0045045 | |
| Elevated serum creatine kinase |
Elevated blood creatine phosphokinase
Elevated circulating creatine phosphokinase
Elevated creatine kinase
Elevated serum CPK
Elevated serum creatine phosphokinase
High serum creatine kinase
Increased CPK
Increased creatine kinase
Increased creatine phosphokinase
Increased serum CK
Increased serum creatine kinase
Increased serum creatine phosphokinase
[ more ]
|
0003236 |
| Exercise intolerance |
Decreased ability to exercise
Inability to exercise
[ more ]
|
0003546 |
| Exercise-induced myalgia |
Exercise-induced muscle pain
Muscle pain on exercise
Muscle pain with exercise
Muscle pain, exercise-induced
[ more ]
|
0003738 |
| Hyperlipidemia |
Elevated lipids in blood
|
0003077 |
| Myoglobinuria | 0002913 | |
| Myopathy |
Muscle tissue disease
|
0003198 |
| Red-brown urine | 0040320 | |
| 5%-29% of people have these symptoms | ||
| Cold-induced muscle cramps | 0003449 | |
| Episodic abdominal pain | 0002574 | |
| Exercise-induced muscle cramps |
Exercise-induced muscle cramping
Muscle cramps following exercise
Muscle cramps on exercise
Muscle cramps on exertion
Muscle cramps with exertion
[ more ]
|
0003710 |
| Headache |
Headaches
|
0002315 |
| Hepatomegaly |
Enlarged liver
|
0002240 |
| Intermittent painful muscle spasms | 0011964 | |
| Renal tubular epithelial necrosis | 0008682 | |
| Rhabdomyolysis |
Breakdown of skeletal muscle
|
0003201 |
| 0001250 | ||
| Stage 5 chronic |
0003774 | |
| Tubulointerstitial nephritis | 0001970 | |
| 1%-4% of people have these symptoms | ||
| Abnormality of the basal ganglia | 0002134 | |
| Agenesis of |
0001274 | |
| Arrhythmia |
Abnormal heart rate
Heart rhythm disorders
Irregular heart beat
Irregular heartbeat
[ more ]
|
0011675 |
|
Disease of the heart muscle
|
0001638 | |
| Cerebellar vermis hypoplasia | 0001320 | |
| Cerebral calcification |
Abnormal deposits of calcium in the brain
|
0002514 |
| Coma | 0001259 | |
| Cystic renal dysplasia | 0000800 | |
| Hepatic calcification | 0006559 | |
| Hepatic failure |
Liver failure
|
0001399 |
|
Too much cerebrospinal fluid in the brain
|
0000238 | |
| Hypoketotic |
0001985 | |
| Neonatal respiratory distress |
Infantile respiratory distress
Newborn respiratory distress
Respiratory distress, neonatal
[ more ]
|
0002643 |
| Pachygyria |
Fewer and broader ridges in brain
|
0001302 |
| Polycystic kidney dysplasia | 0000113 | |
| Polymicrogyria |
More grooves in brain
|
0002126 |
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.
The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your healthcare professional.
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
|
|---|
|
The differential diagnosis for the myopathic form should include McArdle disease, Duchenne muscular dystrophy, and cytochrome c oxidase deficiency (see these terms) among others, and carnitine-acylcarnitine translocase deficiency (CACT) and very-long-chain acyl-CoA dehydrogenase deficiency (see these terms) for the infantile and neonatal forms
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.
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.
