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||
|80%-99% of people have these symptoms|
|Abnormal palate morphology||
Abnormality of the palate
Abnormality of the roof of the mouth[ more ]
|Elevated serum creatine kinase||
Elevated blood creatine phosphokinase
Elevated circulating creatine phosphokinase
Elevated creatine kinase
Elevated serum CPK
Elevated serum creatine phosphokinase
High serum creatine kinase
Increased creatine kinase
Increased creatine phosphokinase
Increased serum CK
Increased serum creatine kinase
Increased serum creatine phosphokinase[ more ]
|EMG: myopathic abnormalities||0003458|
|Generalized muscle weakness||0003324|
|Hyperextensibility at wrists||
Increased wrist mobility
|Increased endomysial connective
|Increased laxity of fingers||0006149|
|Increased variability in muscle fiber diameter||0003557|
Round back[ more ]
Reduced spine movement
|30%-79% of people have these symptoms|
Inward turned thumb
|Decreased fetal movement||
Less than 10 fetal movements in 12 hours
Contractures of elbows
Elbow contractures[ more ]
Inward turning cross eyed
Diffuse skeletal muscle wasting
Generalized muscle degeneration
Muscle atrophy, generalized[ more ]
Decreased muscle tone
Low muscle tone[ more ]
Dislocation of hip[ more ]
|Knee flexion contracture||0006380|
Increased length of toes
Long toes[ more ]
Little lower jaw
Small lower jaw[ more ]
Decreased length of neck
thin fingers[ more ]
|1%-4% of people have these symptoms|
|Reduced muscle collagen VI||0030095|
|Percent of people who have these symptoms is not available through HPO|
|Failure to thrive||
Weight faltering[ more ]
|Feeding difficulties in infancy||0008872|
Flexed joint that cannot be straightened
Increased palatal height[ more ]
Sweating, increased[ more ]
|Increased laxity of ankles||0006460|
Onset in first year of life
Onset in infancy[ more ]
|Mildly elevated creatine kinase||0008180|
|Muscle fiber necrosis||0003713|
Low muscle tone, in neonatal onset
Worsens with time
Prominent ears[ more ]
|Proximal muscle weakness||
Weakness in muscles of upper arms and upper legs
|Recurrent lower respiratory tract infections||
Recurrent chest infections
|Respiratory insufficiency due to muscle weakness||
Decreased lung function due to weak breathing muscles
Round facial appearance
Round facial shape[ more ]
Clubfoot[ more ]
|Type 1 muscle fiber predominance||0003803|
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
In the neonatal period, the differential diagnoses include Bethlem myopathy and other forms of congenitalmuscular dystrophy (CMD) and myopathy, spinal muscular atrophy, forms of Ehlers-Danlos syndrome, and Marfan syndrome (see these terms). Some CMD subtypes such as merosin-deficient congenital muscular dystrophy (MDC1A), Walker-Warburg syndrome, muscle-eye-brain disease, and Fukuyama CMD (see these terms) should also be considered, although in these disorders intellectual deficit is a major symptom.
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.
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
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.
2017 Million Dollar Bike Ride Pilot Grant Program
August 30, 2017
2016 Million Dollar Bike Ride Pilot Grant Program
August 15, 2016
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My brother has Ullrich congenital muscular dystrophy. Is there a cure for this disease? See answer