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 | ||
| Centrally nucleated skeletal muscle fibers | 0003687 | |
| EMG abnormality | 0003457 | |
| Gait disturbance |
Abnormal gait
Abnormal walk
Impaired gait
[ more ]
|
0001288 |
| Muscular |
Low or weak muscle tone
|
0001252 |
| Progressive muscle weakness | 0003323 | |
| Skeletal muscle atrophy |
Muscle degeneration
Muscle wasting
[ more ]
|
0003202 |
| 30%-79% of people have these symptoms | ||
| External ophthalmoplegia |
Paralysis or weakness of muscles within or surrounding outer part of eye
|
0000544 |
| Heart block | 0012722 | |
| Mask-like facies |
Expressionless face
Lack of facial expression
Mask-like facial appearance
[ more ]
|
0000298 |
|
Drooping upper eyelid
|
0000508 | |
| Reduced tendon reflexes | 0001315 | |
| Respiratory failure | 0002878 | |
| 0002650 | ||
| 0001250 | ||
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 main differential diagnoses include congenital myotonic dystrophy and other conditions with severe neonatal hypotonia.
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.
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