Orpha Number: 199351
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||
|30%-79% of people have these symptoms|
|Abnormal levels of creatine kinase in blood||0040081|
Slowness of movements[ more ]
Difficulty articulating speech
Swallowing difficulty[ more ]
Difficulty opening the eyelids
|Frontotemporal cerebral atrophy||0006892|
|Generalized cerebral atrophy/hypoplasia||
Generalized cerebral degeneration/underdevelopment
Dull facial expression
|Parkinsonism with favorable response to dopaminergic medication||0002548|
|Progressive extrapyramidal movement disorder||0007153|
Involuntary muscle stiffness, contraction, or spasm
|5%-29% of people have these symptoms|
|Iron accumulation in brain||0012675|
|Supranuclear gaze palsy||0000605|
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.