Orpha Number: 329308
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 | ||
Falls | 0002527 | |
Mental deterioration |
Cognitive decline
Cognitive decline, progressive
Intellectual deterioration
Progressive cognitive decline
[ more ]
|
0001268 |
Progressive gait |
0007240 | |
Progressive spastic paraplegia | 0007020 | |
30%-79% of people have these symptoms | ||
Anarthria |
Loss of articulate speech
|
0002425 |
Atrophy of the spinal cord |
Degeneration of the spinal cord
|
0006827 |
Bilateral tonic-clonic |
Grand mal seizures
|
0002069 |
Cerebellar atrophy |
Degeneration of cerebellum
|
0001272 |
Cerebellar vermis atrophy | 0006855 | |
Color vision test abnormality | 0030584 | |
Difficulty articulating speech
|
0001260 | |
Generalized |
0007325 | |
Horizontal |
0000666 | |
Hypoplasia of the |
Underdevelopment of part of brain called corpus callosum
|
0002079 |
Loss of ability to walk | 0006957 | |
Motor aphasia |
Loss of expressive speech
|
0002427 |
Optic atrophy | 0000648 | |
Progressive extrapyramidal movement disorder | 0007153 | |
Progressive spastic paraparesis | 0007199 | |
Progressive spastic quadriplegia | 0002478 | |
Slow decrease in visual acuity |
Slow decrease in sharpness of vision
|
0007924 |
Supranuclear gaze palsy | 0000605 | |
Visual field defect |
Partial loss of field of vision
|
0001123 |
5%-29% of people have these symptoms | ||
Ankle clonus |
Abnormal rhythmic movements of ankle
|
0011448 |
External ophthalmoplegia |
Paralysis or weakness of muscles within or surrounding outer part of eye
|
0000544 |
Focal seizures, afebril | 0040168 | |
Cross-eyed
Squint
Squint eyes
[ more ]
|
0000486 | |
Urinary incontinence |
Loss of bladder control
|
0000020 |
1%-4% of people have these symptoms | ||
Anxiety |
Excessive, persistent worry and fear
|
0000739 |
Bipolar affective disorder |
Bipolar disorder
|
0007302 |
Depressivity |
Depression
|
0000716 |
Poor swallowing
Swallowing difficulties
Swallowing difficulty
[ more ]
|
0002015 | |
0009830 | ||
Percent of people who have these symptoms is not available through HPO | ||
Abnormality of the periventricular white matter | 0002518 | |
Atrophy/Degeneration affecting the brainstem | 0007366 | |
0000007 | ||
Babinski sign | 0003487 | |
Difficulty walking |
Difficulty in walking
|
0002355 |
Dysmetria |
Lack of coordination of movement
|
0001310 |
Dysmyelinating leukodystrophy | 0006978 | |
Dystonia | 0001332 | |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
|
0001249 | |
Lower limb |
0002061 | |
Neurodegeneration |
Ongoing loss of nerve cells
|
0002180 |
Nystagmus |
Involuntary, rapid, rhythmic eye movements
|
0000639 |
Progressive |
Worsens with time
|
0003676 |
Seizure | 0001250 | |
Spastic paraparesis | 0002313 | |
Spastic paraplegia | 0001258 | |
Spastic tetraparesis | 0001285 | |
Urinary urgency |
Overactive bladder
|
0000012 |
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.
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.
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