Orpha Number: 97244
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|
Decreased muscle tone
Low muscle tone[ more ]
Muscle tissue disease
|Neck muscle weakness||
Abnormal curving of the spine
Reduced spine movement
|30%-79% of people have these symptoms|
|Abnormality on pulmonary function testing||0030878|
|Cardiac conduction abnormality||0031546|
Contractures of elbows
Elbow contractures[ more ]
Decreased reflex response
Decreased reflexes[ more ]
|Poor head control||0002421|
|Skeletal muscle atrophy||
Muscle wasting[ more ]
|5%-29% of people have these symptoms|
Waddling walk[ more ]
|Percent of people who have these symptoms is not available through HPO|
|Abnormality of the rib cage||0001547|
|Axial muscle weakness||0003327|
|Failure to thrive||
Weight faltering[ more ]
Flexed joint that cannot be straightened
Diffuse skeletal muscle wasting
Generalized muscle degeneration
Muscle atrophy, generalized[ more ]
|Generalized muscle weakness||0003324|
Increased palatal height[ more ]
|High pitched voice||0001620|
|Increased variability in muscle fiber diameter||0003557|
Onset in first year of life
Onset in infancy[ more ]
|Limited neck flexion||
Limited neck flexibility
Low or weak muscle tone
|Reduced vital capacity||0002792|
|Restrictive deficit on pulmonary function testing||0002111|
Decreased body height
Small stature[ more ]
|Type 1 and type 2 muscle fiber minicore regions||0003787|
The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your 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.
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.