Orpha Number: 746
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 | ||
Areflexia |
Absent tendon reflexes
|
0001284 |
Exercise intolerance |
Decreased ability to exercise
Inability to exercise
[ more ]
|
0003546 |
Rhabdomyolysis |
Breakdown of skeletal muscle
|
0003201 |
30%-79% of people have these symptoms | ||
Disease of the heart muscle
|
0001638 | |
Chronic hepatic failure |
Chronic liver failure
|
0100626 |
Congestive heart failure |
Cardiac failure
Cardiac failures
Heart failure
[ more ]
|
0001635 |
Decreased patellar reflex |
Decreased knee jerk reflex
|
0011808 |
Difficulty climbing stairs |
Difficulty walking up stairs
|
0003551 |
Diffuse hepatic steatosis | 0006555 | |
Failure to thrive in infancy |
Faltering weight in infancy
Weight faltering in infancy
[ more ]
|
0001531 |
Hypocalcemia |
Low blood calcium levels
|
0002901 |
Hypoketotic |
0001985 | |
Left ventricular hypertrophy | 0001712 | |
Lethargy | 0001254 | |
Lower limb muscle weakness |
Lower extremity weakness
Lower limb weakness
Muscle weakness in lower limbs
[ more ]
|
0007340 |
Muscle spasm | 0003394 | |
Muscular |
Low or weak muscle tone
|
0001252 |
Poor suck |
Poor sucking
|
0002033 |
Progressive distal muscle weakness | 0009063 | |
Skeletal myopathy | 0003756 | |
5%-29% of people have these symptoms | ||
Arrhythmia |
Abnormal heart rate
Heart rhythm disorders
Irregular heart beat
Irregular heartbeat
[ more ]
|
0011675 |
Babinski sign | 0003487 | |
Cholestasis |
Slowed or blocked flow of bile from liver
|
0001396 |
Coma | 0001259 | |
Equinovarus deformity | 0008110 | |
Equinus calcaneus | 0008138 | |
Frequent falls | 0002359 | |
Generalized muscle weakness | 0003324 | |
Hypoparathyroidism |
Decreased parathyroid hormone secretion
|
0000829 |
Mitral regurgitation | 0001653 | |
Motor delay | 0001270 | |
Myalgia |
Muscle ache
Muscle pain
[ more ]
|
0003326 |
Pes cavus |
High-arched foot
|
0001761 |
Pigmentary retinopathy | 0000580 | |
Respiratory failure | 0002878 | |
0001250 | ||
Toe walking |
Toe-walking
|
0040083 |
Tricuspid regurgitation | 0005180 | |
1%-4% of people have these symptoms | ||
Distal peripheral sensory neuropathy | 0007067 | |
Primitive reflex | 0002476 | |
Rigors | 0025145 | |
Sensorimotor neuropathy |
Nerve damage causing decreased feeling and movement
|
0007141 |
Percent of people who have these symptoms is not available through HPO | ||
Abnormality of the amniotic fluid | 0001560 | |
0000007 | ||
Dilated cardiomyopathy |
Stretched and thinned heart muscle
|
0001644 |
Elevated hepatic transaminase |
High liver enzymes
|
0002910 |
Failure to thrive |
Faltering weight
Weight faltering
[ more ]
|
0001508 |
Generalized hypotonia |
Decreased muscle tone
Low muscle tone
[ more ]
|
0001290 |
Global |
0001263 | |
Hydrops fetalis | 0001789 | |
Hyperammonemia |
High blood ammonia levels
|
0001987 |
Lactic acidosis |
Increased lactate in body
|
0003128 |
Myoglobinuria | 0002913 | |
Myopathy |
Muscle tissue disease
|
0003198 |
0009830 | ||
Prenatal maternal abnormality | 0002686 | |
Respiratory insufficiency |
Respiratory impairment
|
0002093 |
Small for gestational age |
Birth weight less than 10th percentile
Low birth weight
[ more ]
|
0001518 |
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.
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.
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.
NIH-Supported Research Survey to Examine Impact of COVID-19 on Rare Diseases Community
May 22, 2020
NCATS Translational Approach Addresses COVID-19
May 21, 2020
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.