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 | ||
| Abnormal pyramidal sign | 0007256 | |
| Abnormality of extrapyramidal motor function | 0002071 | |
| Clumsiness | 0002312 | |
| Delayed speech and language development |
Deficiency of speech development
Delayed language development
Delayed speech
Delayed speech acquisition
Delayed speech development
Impaired speech and language development
Impaired speech development
Language delay
Language delayed
Language development deficit
Late-onset speech development
Poor language development
Speech and language delay
Speech and language difficulties
Speech delay
[ more ]
|
0000750 |
| Diplopia |
Double vision
|
0000651 |
|
Difficulty articulating speech
|
0001260 | |
| 0001332 | ||
| Hyperreflexia |
Increased reflexes
|
0001347 |
|
Involuntary, rapid, rhythmic eye movements
|
0000639 | |
| Progressive cerebellar |
0002073 | |
| Progressive external ophthalmoplegia | 0000590 | |
| Proptosis |
Bulging eye
Eyeballs bulging out
Prominent eyes
Prominent globes
Protruding eyes
[ more ]
|
0000520 |
| Skeletal muscle atrophy |
Muscle degeneration
Muscle wasting
[ more ]
|
0003202 |
| 5%-29% of people have these symptoms | ||
| Abnormal autonomic nervous system physiology | 0012332 | |
| Abnormality of temperature regulation |
Poor temperature regulation
|
0004370 |
| Vestibular dysfunction | 0001751 | |
| Vocal cord paralysis |
Inability to move vocal cords
|
0001605 |
| 1%-4% of people have these symptoms | ||
| Ataxia | 0001251 | |
| External ophthalmoplegia |
Paralysis or weakness of muscles within or surrounding outer part of eye
|
0000544 |
| Fasciculations |
Muscle twitch
|
0002380 |
| Gaze-evoked nystagmus | 0000640 | |
| Parkinsonism | 0001300 | |
|
Involuntary muscle stiffness, contraction, or spasm
|
0001257 | |
| Percent of people who have these symptoms is not available through HPO | ||
| Abnormal electrooculogram | 0030454 | |
| Absent Achilles reflex |
Absent ankle reflexes
|
0003438 |
| 0000006 | ||
| Babinski sign | 0003487 | |
| Bradykinesia |
Slow movements
Slowness of movements
[ more ]
|
0002067 |
| Cerebellar atrophy |
Degeneration of cerebellum
|
0001272 |
| Chronic pain |
Long-lasting pain
|
0012532 |
|
Dementia, progressive
Progressive dementia
[ more ]
|
0000726 | |
| Dilated fourth ventricle | 0002198 | |
| Distal amyotrophy |
Distal muscle wasting
|
0003693 |
| Dysmetric saccades |
Uncoordinated eye movement
|
0000641 |
|
Poor swallowing
Swallowing difficulties
Swallowing difficulty
[ more ]
|
0002015 | |
| Facial-lingual fasciculations | 0007089 | |
| Genetic |
0003743 | |
| Gliosis | 0002171 | |
| Impaired horizontal smooth pursuit | 0001151 | |
| Impaired vibratory sensation |
Decreased vibration sense
Decreased vibratory sense
Diminished vibratory sense
Impaired vibratory sense
[ more ]
|
0002495 |
| Limb ataxia | 0002070 | |
| Muscle spasm | 0003394 | |
| Postural instability |
Balance impairment
|
0002172 |
| Progressive |
Worsens with time
|
0003676 |
|
Drooping upper eyelid
|
0000508 | |
| Rigidity |
Muscle rigidity
|
0002063 |
| Spinocerebellar tract degeneration | 0002503 | |
| Supranuclear ophthalmoplegia | 0000623 | |
| Truncal ataxia |
Instability or lack of coordination of central trunk muscles
|
0002078 |
| Urinary bladder sphincter dysfunction | 0002839 | |
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a 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.
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 is broad and includes other types of SCA which may have similar features.
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.
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
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. Submit a new question
My daughter was just diagnosed with multiple sclerosis (MS). Her father is in a care facility with advanced Machado Joseph disease (spinocerebellar ataxia 3). Her grandmother and great grandfather passed from Machado Joseph. Is it possible they have misdiagnosed the MS? See answer
Is Machado Joseph disease a form of Parkinson's disease? See answer
