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 | ||
| Foot dorsiflexor weakness |
Foot drop
|
0009027 |
| Toe extensor amyotrophy | 0011916 | |
| 30%-79% of people have these symptoms | ||
| Abnormal |
0008316 | |
| Abnormality of the calf musculature |
Abnormal calf muscles
|
0001430 |
| Distal muscle weakness |
Weakness of outermost muscles
|
0002460 |
| Gait disturbance |
Abnormal gait
Abnormal walk
Impaired gait
[ more ]
|
0001288 |
| High palate |
Elevated palate
Increased palatal height
[ more ]
|
0000218 |
| Mildly elevated creatine kinase | 0008180 | |
| Minicore myopathy | 0003789 | |
| Myalgia |
Muscle ache
Muscle pain
[ more ]
|
0003326 |
| Neck muscle weakness |
Floppy neck
|
0000467 |
| Progressive muscle weakness | 0003323 | |
|
Abnormal curving of the spine
|
0002650 | |
| Talipes cavus equinovarus | 0004696 | |
| Type 1 muscle fiber predominance | 0003803 | |
| Weakness of orbicularis oculi muscle | 0012507 | |
| 5%-29% of people have these symptoms | ||
| Dilated |
Stretched and thinned heart muscle
|
0001644 |
| EMG: myopathic abnormalities | 0003458 | |
| Proximal muscle weakness |
Weakness in muscles of upper arms and upper legs
|
0003701 |
| Proximal muscle weakness in lower limbs | 0008994 | |
| Percent of people who have these symptoms is not available through HPO | ||
| Amyotrophy of ankle musculature | 0009031 | |
| 0000006 | ||
| Childhood onset |
Symptoms begin in childhood
|
0011463 |
| EMG: neuropathic changes | 0003445 | |
| Facial palsy |
Bell's palsy
|
0010628 |
| Infantile onset |
Onset in first year of life
Onset in infancy
[ more ]
|
0003593 |
| Pes cavus |
High-arched foot
|
0001761 |
| Ragged-red muscle fibers | 0003200 | |
| Rimmed vacuoles | 0003805 | |
| Slow progression |
Signs and symptoms worsen slowly with time
|
0003677 |
| Weakness of long finger extensor muscles | 0009077 | |
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.
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
|
|---|
|
Differential diagnoses include milder congenital myopathies (central core disease and centronuclear myopathy) and distal myopathies (Udd distal myopathy, Nonaka distal myopathy, Markesbery-Griggs distal myopathy) (see these terms). Genetically related (allelic) disorders are familial hypertrophic cardiomyopathy 1 and myosin storage myopathy, however, the clinical picture of MPD1 is distinct from that of these conditions.
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. Submit a new question
Any current research? See answer
