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|
Absent tendon reflexes
|Cerebellar vermis atrophy||0006855|
Nerve damage causing decreased feeling and movement
|30%-79% of people have these symptoms|
Abnormality of balance
Abnormality of equilibrium
Imbalanced walk[ more ]
|Saccadic smooth pursuit||0001152|
|5%-29% of people have these symptoms|
Small dilated blood vessels near membrane covering front of eye and eyelids
Poor swallowing[ more ]
|Elevated serum creatine phosphokinase||
Elevated blood creatine phosphokinase
Elevated circulating creatine phosphokinase
Elevated creatine kinase
Elevated serum CPK
Elevated serum creatine kinase
High serum creatine kinase
Increased creatine kinase
Increased creatine phosphokinase
Increased serum CK
Increased serum creatine kinase
Increased serum creatine phosphokinase[ more ]
Elevated serum cholesterol
Elevated total cholesterol
Increased total cholesterol[ more ]
Low blood albumin
Squint eyes[ more ]
|Urinary bladder sphincter dysfunction||0002839|
|1%-4% of people have these symptoms|
Degeneration of cerebellum
Distal muscle wasting
|Distal muscle weakness||
Weakness of outermost muscles
Difficulty articulating speech
Inability to coordinate movements when walking
Decreased reflex response
Decreased reflexes[ more ]
|Impaired distal tactile sensation||
Decreased touch sensation in extremities
Involuntary, rapid, rhythmic eye movements
|Peripheral axonal neuropathy||0003477|
Abnormal curving of the spine
|Percent of people who have these symptoms is not available through HPO|
|Abnormal pyramidal sign||0007256|
|Chronic axonal neuropathy||0007267|
|Decreased motor nerve conduction velocity||0003431|
|Impaired distal vibration sensation||0006886|
Peripheral nerve disease
Worsens with time
|Progressive gait ataxia||0007240|
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
Differential diagnosis includes Friedreich ataxia, ataxia with vitamin E deficiency, AOA1, ataxia-telangiectasia, ataxia-telangiectasia-like disorder, autosomal recessive spastic ataxia of Charlevoix-Saguenay.
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.
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.