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 | ||
Focal motor |
0011153 | |
Focal sensory seizure | 0011157 | |
Migraine with aura | 0002077 | |
30%-79% of people have these symptoms | ||
Cerebral edema |
Swelling of brain
|
0002181 |
Complex febrile seizure | 0011172 | |
Confusion |
Disorientation
Easily confused
Mental disorientation
[ more ]
|
0001289 |
CSF lymphocytic pleiocytosis | 0200149 | |
Diplopia |
Double vision
|
0000651 |
Dissociated sensory loss | 0010835 | |
Difficulty articulating speech
|
0001260 | |
Facial tics |
Cramping of facial muscles
Facial spasms
Jerking of facial muscles
Mimic spasms
Spasms of facial muscles
Twitching of facial muscles
[ more ]
|
0011468 |
Hearing impairment |
Deafness
Hearing defect
[ more ]
|
0000365 |
Hemiparesis |
Weakness of one side of body
|
0001269 |
Increased CSF |
0002922 | |
Metamorphopsia | 0012508 | |
Paresthesia |
Pins and needles feeling
Tingling
[ more ]
|
0003401 |
Photopsia | 0030786 | |
Postural instability |
Balance impairment
|
0002172 |
Progressive gait |
0007240 | |
Scotoma | 0000575 | |
Tongue fasciculations |
Tongue twitching
Twitching of the tongue
[ more ]
|
0001308 |
Vertigo |
Dizzy spell
|
0002321 |
5%-29% of people have these symptoms | ||
Alien limb phenomenon | 0032506 | |
Cerebellar atrophy |
Degeneration of cerebellum
|
0001272 |
Coma | 0001259 | |
Decreased vigilance | 0032044 | |
Distal upper limb muscle weakness | 0008959 | |
Dysphasia | 0002357 | |
0011199 | ||
Facial paralysis | 0007209 | |
Gaze-evoked horizontal |
0007979 | |
Hemiplegia |
Paralysis on one side of body
|
0002301 |
Impaired thermal sensitivity | 0006901 | |
Nuchal rigidity | 0031179 | |
Seesaw nystagmus | 0012044 | |
Spontaneous pain sensation | 0010833 | |
Tinnitus |
Ringing in ears
Ringing in the ears
[ more ]
|
0000360 |
Vertical nystagmus | 0010544 | |
1%-4% of people have these symptoms | ||
Amaurosis fugax | 0100576 | |
EEG with focal sharp waves | 0011196 | |
First dorsal interossei muscle weakness | 0003392 | |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
|
0001249 | |
Status epilepticus |
Repeated seizures without recovery between them
|
0002133 |
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.
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. Submit a new question
What is the prognosis for memory retention when patient is on prophylactic medications such a Topamax? The migraines are interfering with my work, yet the Topamax makes me fuzzy as well. Will that resolve? See answer