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 | ||
| Abnormality of the dorsal column of the spinal cord | 0011397 | |
| 30%-79% of people have these symptoms | ||
| Babinski sign | 0003487 | |
| Clumsiness | 0002312 | |
| Difficulty walking |
Difficulty in walking
|
0002355 |
| Distal muscle weakness |
Weakness of outermost muscles
|
0002460 |
|
Difficulty articulating speech
|
0001260 | |
| Dysmyelinating leukodystrophy | 0006978 | |
| Progressive cerebellar |
0002073 | |
| Progressive inability to walk | 0002505 | |
| Progressive |
0002191 | |
| Spastic ataxia | 0002497 | |
| Tremor | 0001337 | |
| Unsteady gait |
Unsteady walk
|
0002317 |
| 5%-29% of people have these symptoms | ||
| Cognitive impairment |
Abnormality of cognition
Cognitive abnormality
Cognitive defects
Cognitive deficits
Intellectual impairment
Mental impairment
[ more ]
|
0100543 |
| Hyporeflexia |
Decreased reflex response
Decreased reflexes
[ more ]
|
0001265 |
| Impaired distal proprioception | 0006858 | |
| Impaired vibration sensation in the lower limbs |
Decreased lower limb vibratory sense
Decreased vibratory sense in lower limbs
Decreased vibratory sense in the lower extremities
Decreased vibratory sense in the lower limbs
Diminished vibratory sensation in the legs
[ more ]
|
0002166 |
| Impaired visuospatial constructive cognition | 0010794 | |
| Increased CSF lactate | 0002490 | |
| Increased serum lactate | 0002151 | |
| Leg muscle stiffness | 0008969 | |
| Mental deterioration |
Cognitive decline
Cognitive decline, progressive
Intellectual deterioration
Progressive cognitive decline
[ more ]
|
0001268 |
| Motor delay | 0001270 | |
| Peripheral axonal neuropathy | 0003477 | |
| Poor fine motor coordination | 0007010 | |
| 1%-4% of people have these symptoms | ||
| Absent speech |
Absent speech development
Lack of language development
Lack of speech
No speech development
No speech or language development
Nonverbal
[ more ]
|
0001344 |
| Cerebellar atrophy |
Degeneration of cerebellum
|
0001272 |
| Cerebral atrophy |
Degeneration of cerebrum
|
0002059 |
| Diplopia |
Double vision
|
0000651 |
| Flexion |
Flexed joint that cannot be straightened
|
0001371 |
| Generalized limb muscle atrophy |
Generalized muscle wasting
|
0009055 |
| Hearing impairment |
Deafness
Hearing defect
[ more ]
|
0000365 |
| Hypoplasia of the |
Underdevelopment of part of brain called corpus callosum
|
0002079 |
| Impaired pursuit initiation and maintenance | 0007668 | |
|
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
|
0001249 | |
| Muscular |
Low or weak muscle tone
|
0001252 |
|
Involuntary, rapid, rhythmic eye movements
|
0000639 | |
| Optic atrophy | 0000648 | |
| Polyneuropathy |
Peripheral nerve disease
|
0001271 |
|
Drooping upper eyelid
|
0000508 | |
| 0001250 | ||
| Slow saccadic eye movements |
Slow eye movements
|
0000514 |
| Slurred speech | 0001350 | |
| Spastic/hyperactive bladder | 0005340 | |
| Truncal ataxia |
Instability or lack of coordination of central trunk muscles
|
0002078 |
| Percent of people who have these symptoms is not available through HPO | ||
| Ataxia | 0001251 | |
| 0000007 | ||
| Hyperreflexia |
Increased reflexes
|
0001347 |
| Leukoencephalopathy | 0002352 | |
| Muscle weakness |
Muscular weakness
|
0001324 |
| Skeletal muscle atrophy |
Muscle degeneration
Muscle wasting
[ more ]
|
0003202 |
| Slow progression |
Signs and symptoms worsen slowly with time
|
0003677 |
| Spasticity |
Involuntary muscle stiffness, contraction, or spasm
|
0001257 |
| 0003828 | ||
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.
