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||
|80%-99% of people have these symptoms|
Degeneration of cerebellum
Impaired gait[ more ]
|30%-79% of people have these symptoms|
|Lower limb muscle weakness||
Lower extremity weakness
Lower limb weakness
Muscle weakness in lower limbs[ more ]
|Reduced tendon reflexes||0001315|
|Short attention span||
Poor attention span
Problem paying attention[ more ]
|Skeletal muscle atrophy||
Muscle wasting[ more ]
|5%-29% of people have these symptoms|
|Abnormality of the cerebral white matter||0002500|
Abnormal rhythmic movements of ankle
|Chronic axonal neuropathy||0007267|
|Decreased fetal movement||
Less than 10 fetal movements in 12 hours
Difficulty articulating speech
Lack of coordination of movement
|EMG: neuropathic changes||0003445|
|Impaired smooth pursuit||0007772|
Mental retardation, nonspecific
Mental-retardation[ more ]
Round back[ more ]
Low muscle tone, in neonatal onset
Weakness of muscles controlling eye movement
Drooping upper eyelid
Squint eyes[ more ]
Loss of bladder control
|1%-4% of people have these symptoms|
|Abnormality of the respiratory system||0002086|
|Atrophy/Degeneration affecting the brainstem||0007366|
|Impaired vibratory sensation||
Decreased vibration sense
Decreased vibratory sense
Diminished vibratory sense
Impaired vibratory sense[ more ]
|Peripheral axonal neuropathy||0003477|
Peripheral nerve disease
|Sensory axonal neuropathy||0003390|
Involuntary muscle stiffness, contraction, or spasm
|Percent of people who have these symptoms is not available through HPO|
Symptoms begin in adulthood
Inability to coordinate movements when walking
Involuntary, rapid, rhythmic eye movements
Signs and symptoms worsen slowly with time
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.