Orpha Number: 88644
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 | ||
| Progressive cerebellar |
0002073 | |
| Spastic |
0002464 | |
| 30%-79% of people have these symptoms | ||
| Brisk reflexes | 0001348 | |
| Cerebellar atrophy |
Degeneration of cerebellum
|
0001272 |
| Decreased fetal movement |
Less than 10 fetal movements in 12 hours
|
0001558 |
| Dysmetria |
Lack of coordination of movement
|
0001310 |
| Dysmetric saccades |
Uncoordinated eye movement
|
0000641 |
| Impaired smooth pursuit | 0007772 | |
| Limb ataxia | 0002070 | |
| Motor delay | 0001270 | |
|
Involuntary, rapid, rhythmic eye movements
|
0000639 | |
| Progressive gait ataxia | 0007240 | |
| 5%-29% of people have these symptoms | ||
| Abnormal motor evoked potentials | 0012896 | |
| Adducted thumb |
Inward turned thumb
|
0001181 |
|
Loss of developmental milestones
Mental deterioration in childhood
[ more ]
|
0002376 | |
| Distal arthrogryposis | 0005684 | |
| EMG: neuropathic changes | 0003445 | |
| Joint |
0009473 | |
| Mildly elevated creatine kinase | 0008180 | |
| Muscular |
Low or weak muscle tone
|
0001252 |
| Peripheral axonal neuropathy | 0003477 | |
| 1%-4% of people have these symptoms | ||
| Bilateral talipes equinovarus |
Club foot on both sides
|
0001776 |
| Cryptorchidism |
Undescended testes
Undescended testis
[ more ]
|
0000028 |
| Fasciculations |
Muscle twitch
|
0002380 |
|
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
|
0001249 | |
| Respiratory insufficiency due to muscle weakness |
Decreased lung function due to weak breathing muscles
|
0002747 |
|
Involuntary muscle stiffness, contraction, or spasm
|
0001257 | |
| Percent of people who have these symptoms is not available through HPO | ||
| Adult onset |
Symptoms begin in adulthood
|
0003581 |
| 0000007 | ||
| Dysarthria |
Difficulty articulating speech
|
0001260 |
| Gait ataxia |
Inability to coordinate movements when walking
|
0002066 |
| Kyphosis |
Hunched back
Round back
[ more ]
|
0002808 |
| Pes cavus |
High-arched foot
|
0001761 |
|
Drooping upper eyelid
|
0000508 | |
| 0002650 | ||
| Slow progression |
Signs and symptoms worsen slowly with time
|
0003677 |
|
Cross-eyed
Squint
Squint eyes
[ more ]
|
0000486 | |
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.
