Orpha Number: 1878
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 | ||
| 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 CPK
Increased creatine kinase
Increased creatine phosphokinase
Increased serum CK
Increased serum creatine kinase
Increased serum creatine phosphokinase
[ more ]
|
0003236 |
| EMG abnormality | 0003457 | |
| Increased variability in muscle fiber diameter | 0003557 | |
| Mask-like facies |
Expressionless face
Lack of facial expression
Mask-like facial appearance
[ more ]
|
0000298 |
| Myopathy |
Muscle tissue disease
|
0003198 |
| Proximal muscle weakness in lower limbs | 0008994 | |
| Waddling gait |
'Waddling' gait
Waddling walk
[ more ]
|
0002515 |
| 30%-79% of people have these symptoms | ||
| Tall stature |
Increased body height
|
0000098 |
| Percent of people who have these symptoms is not available through HPO | ||
| Areflexia |
Absent tendon reflexes
|
0001284 |
| 0000007 | ||
| Calf muscle pseudohypertrophy | 0003707 | |
| Centrally nucleated skeletal muscle fibers | 0003687 | |
| EMG: myopathic abnormalities | 0003458 | |
| Exercise-induced myalgia |
Exercise-induced muscle pain
Muscle pain on exercise
Muscle pain with exercise
Muscle pain, exercise-induced
[ more ]
|
0003738 |
| Facial palsy |
Bell's palsy
|
0010628 |
| Gowers sign | 0003391 | |
| Hyporeflexia | 0001265 | |
| Muscular dystrophy | 0003560 | |
| Neck flexor weakness |
Neck flexion weakness
|
0003722 |
| 0008988 | ||
| Pelvic girdle muscle weakness | 0003749 | |
| Quadriceps muscle weakness |
Quadriceps weakness
|
0003731 |
| Shoulder girdle muscle atrophy |
Shoulder girdle muscle wasting
Shoulder-girdle muscle atrophy
[ more ]
|
0003724 |
| Shoulder girdle muscle weakness | 0003547 | |
| Slow progression | 0003677 | |
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.
NCATS Rare Diseases Are Not Rare! Challenge
October 9, 2018
The NIH Undiagnosed Diseases Network Expands
September 26, 2018
Publication Highlights Release of Muscular Dystrophy Action Plan
April 8, 2016
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.
