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 | |
| 30%-79% of people have these symptoms | ||
| Abnormality of the foot musculature |
Abnormal foot muscles
|
0001436 |
| Decreased fetal movement |
Less than 10 fetal movements in 12 hours
|
0001558 |
| Delayed gross motor development |
Delayed motor skills
|
0002194 |
| Difficulty walking |
Difficulty in walking
|
0002355 |
| EMG: myopathic abnormalities | 0003458 | |
| Generalized |
Decreased muscle tone
Low muscle tone
[ more ]
|
0001290 |
| Large for gestational age |
Birth weight > 90th percentile
Birthweight > 90th percentile
[ more ]
|
0001520 |
| Macrocephaly at birth |
Big skull present at birth
Big skull present since birth
Large skull present at birth
Large skull present since birth
[ more ]
|
0004488 |
| Mildly elevated creatine kinase | 0008180 | |
| Muscle fibrillation | 0010546 | |
| Polyhydramnios |
High levels of amniotic fluid
|
0001561 |
| Proximal muscle weakness in lower limbs | 0008994 | |
| Proximal muscle weakness in upper limbs | 0008997 | |
|
Drooping upper eyelid
|
0000508 | |
| Spontaneous abortion | 0005268 | |
| Thin ribs |
Slender ribs
|
0000883 |
| Type 1 muscle fiber predominance | 0003803 | |
| 5%-29% of people have these symptoms | ||
| Areflexia of lower limbs | 0002522 | |
| Calf muscle hypertrophy |
Increased size of calf muscles
|
0008981 |
| Cavernous hemangioma |
Collection of dilated blood vessels that forms mass
|
0001048 |
| Cryptorchidism |
Undescended testes
Undescended testis
[ more ]
|
0000028 |
| Exercise-induced myalgia |
Exercise-induced muscle pain
Muscle pain on exercise
Muscle pain with exercise
Muscle pain, exercise-induced
[ more ]
|
0003738 |
| External ophthalmoplegia |
Paralysis or weakness of muscles within or surrounding outer part of eye
|
0000544 |
| Neonatal asphyxia | 0012768 | |
| Peripheral axonal neuropathy | 0003477 | |
| Pyloric stenosis | 0002021 | |
| Respiratory insufficiency due to muscle weakness |
Decreased lung function due to weak breathing muscles
|
0002747 |
| Skeletal muscle hypertrophy |
Increased skeletal muscle cells
|
0003712 |
| Urinary incontinence |
Loss of bladder control
|
0000020 |
| 1%-4% of people have these symptoms | ||
| Malignant hyperthermia | 0002047 | |
| Percent of people who have these symptoms is not available through HPO | ||
| Areflexia |
Absent tendon reflexes
|
0001284 |
| 0000006 | ||
| Easy fatigability | 0003388 | |
| Facial palsy |
Bell's palsy
|
0010628 |
| Flexion |
Flexed joint that cannot be straightened
|
0001371 |
| Hyperlordosis |
Prominent swayback
|
0003307 |
| Motor delay | 0001270 | |
| Proximal muscle weakness |
Weakness in muscles of upper arms and upper legs
|
0003701 |
| Sleepy facial expression | 0005335 | |
| Slow progression |
Signs and symptoms worsen slowly with time
|
0003677 |
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
|
|---|
|
The main differential diagnoses include other congenital myopathies with predominant distal involvement, myotonic dystrophy and, if facial involvement is prominent, fascio-scapulo-humeral dystrophy (FSH) (see these terms).
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.
