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 | ||
| Generalized muscle weakness | 0003324 | |
| Muscular |
Low or weak muscle tone
|
0001252 |
| Reduced tendon reflexes | 0001315 | |
| 30%-79% of people have these symptoms | ||
| Ankle |
0006466 | |
| Decreased fetal movement |
Less than 10 fetal movements in 12 hours
|
0001558 |
| EMG: myopathic abnormalities | 0003458 | |
| Failure to thrive |
Faltering weight
Weight faltering
[ more ]
|
0001508 |
| Fatigable weakness of bulbar muscles | 0030192 | |
| High palate |
Elevated palate
Increased palatal height
[ more ]
|
0000218 |
| Hip contracture | 0003273 | |
| Joint laxity |
Joint instability
Lax joints
Loose-jointedness
Loosejointedness
[ more ]
|
0001388 |
| Long face |
Elongation of face
Increased height of face
Increased length of face
Vertical elongation of face
Vertical enlargement of face
Vertical overgrowth of face
[ more ]
|
0000276 |
| Mildly elevated creatine phosphokinase | 0008180 | |
| Motor delay | 0001270 | |
| Pectus excavatum |
Funnel chest
|
0000767 |
| Poor suck |
Poor sucking
|
0002033 |
| Recurrent respiratory infections |
Frequent respiratory infections
Multiple respiratory infections
respiratory infections, recurrent
Susceptibility to respiratory infections
[ more ]
|
0002205 |
| Reduced vital capacity | 0002792 | |
| Respiratory insufficiency due to muscle weakness | 0002747 | |
| Tented upper lip vermilion | 0010804 | |
| Type 1 muscle fiber atrophy | 0011807 | |
| Waddling gait |
'Waddling' gait
Waddling walk
[ more ]
|
0002515 |
| Weak cry | 0001612 | |
| 5%-29% of people have these symptoms | ||
| Calf muscle hypertrophy |
Increased size of calf muscles
|
0008981 |
|
Dislocated hip since birth
|
0001374 | |
| Elbow flexion contracture |
Contractures of elbows
Elbow contracture
Elbow contractures
[ more ]
|
0002987 |
| Flexion contracture of finger | 0012785 | |
| Hyperlordosis |
Prominent swayback
|
0003307 |
| Knee flexion contracture | 0006380 | |
| Kyphoscoliosis | 0002751 | |
|
Little lower jaw
Small jaw
Small lower jaw
[ more ]
|
0000347 | |
| Ophthalmoplegia |
Eye muscle paralysis
|
0000602 |
| Polyhydramnios | 0001561 | |
|
Drooping upper eyelid
|
0000508 | |
| Pulmonary hypoplasia |
Small lung
Underdeveloped lung
[ more ]
|
0002089 |
| Scapular winging |
Winged shoulder blade
|
0003691 |
|
Decreased body height
Small stature
[ more ]
|
0004322 | |
| Talipes equinovarus |
Club feet
Club foot
Clubfeet
Clubfoot
[ more ]
|
0001762 |
| 1%-4% of people have these symptoms | ||
| Cryptorchidism |
Undescended testes
Undescended testis
[ more ]
|
0000028 |
| Dilated |
Stretched and thinned heart muscle
|
0001644 |
|
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
|
0001249 | |
| Limb joint contracture |
Limb contractures
|
0003121 |
|
Abnormal curving of the spine
|
0002650 | |
| Percent of people who have these symptoms is not available through HPO | ||
| 0000006 | ||
| 0000007 | ||
| Bulbar palsy | 0001283 | |
| Centrally nucleated skeletal muscle fibers | 0003687 | |
| Congenital onset |
Symptoms present at birth
|
0003577 |
|
Poor swallowing
Swallowing difficulties
Swallowing difficulty
[ more ]
|
0002015 | |
| Facial palsy |
Bell's palsy
|
0010628 |
| Feeding difficulties |
Feeding problems
Poor feeding
[ more ]
|
0011968 |
| Lumbar hyperlordosis | 0002938 | |
| Narrow face |
Decreased breadth of face
Decreased width of face
[ more ]
|
0000275 |
| Neonatal hypotonia |
Low muscle tone, in neonatal onset
|
0001319 |
| Proximal muscle weakness | 0003701 | |
| Respiratory insufficiency |
Respiratory impairment
|
0002093 |
| Type 1 fibers relatively smaller than type 2 fibers | 0003755 | |
| 0003828 | ||
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 other congenital myopathies (X-linked myotubular myopathy, multiminicore disease, nemaline myopathy) and neuromuscular disorders (congenital muscular dystrophy, Emery-Dreifuss muscular dystrophy) (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.
NCATS Rare Diseases Are Not Rare! Challenge
October 9, 2018
The NIH Undiagnosed Diseases Network Expands
September 26, 2018
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
What is the incidence of congenital fiber type disproportion? Is it considered a rare disease? See answer
My child has congenital fiber type disproportion due to a mutation in SEPN1. Are there any new drugs or vitamins (even under trial) to treat this condition. See answer
