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|
Increased plasma triglycerides
Increased serum triglycerides
Increased triglycerides[ more ]
Muscle tissue disease
|Progressive proximal muscle weakness||0009073|
|30%-79% of people have these symptoms|
|Abnormal levels of creatine kinase in blood||0040081|
|Delayed skeletal maturation||
Delayed bone maturation
Delayed skeletal development[ more ]
Swallowing difficulty[ more ]
|Elevated hepatic transaminases||
High liver enzymes
Exercise-induced muscle pain
Muscle pain on exercise
Muscle pain with exercise
Muscle pain, exercise-induced[ more ]
|Failure to thrive||
Weight faltering[ more ]
|Generalized muscle hypertrophy||
Generalized increase in muscle cell size
|Loss of subcutaneous adipose
Loss of fat tissue below the skin in limbs
Missed heart beat
Skipped heart beat[ more ]
|Prolonged QTc interval||0005184|
|5%-29% of people have these symptoms|
|Abnormality of skeletal muscle fiber size||0012084|
Darkened and thickened skin
|Congestive heart failure||
Heart failure[ more ]
Fatty infiltration of liver
Fatty liver[ more ]
Frequent, severe infections
Increased frequency of infection
Predisposition to infections
Susceptibility to infection[ more ]
Abnormal curving of the spine
Increased spleen size
|1%-4% of people have these symptoms|
|Percent of people who have these symptoms is not available through HPO|
|Elevated serum creatine phosphokinase||
Elevated blood creatine phosphokinase
Elevated circulating creatine phosphokinase
Elevated creatine kinase
Elevated serum CPK
Elevated serum creatine kinase
High serum creatine kinase
Increased creatine kinase
Increased creatine phosphokinase
Increased serum CK
Increased serum creatine kinase
Increased serum creatine phosphokinase[ more ]
Poor feeding[ more ]
|Generalized muscle weakness||0003324|
Onset in first year of life
Onset in infancy[ more ]
Muscle pain[ more ]
|Prolonged QT interval||0001657|
Prominent belly button
Prominent navel[ more ]
|Proximal muscle weakness||0003701|
|Skeletal muscle hypertrophy||
Increased skeletal muscle cells
Fast heart rate
Racing heart[ more ]
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.
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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.
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.
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.