Orpha Number: 199351
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 |
---|---|---|
30%-79% of people have these symptoms | ||
Abnormal circulating creatine kinase concentration |
Abnormal levels of creatine kinase in blood
|
0040081 |
Bradykinesia |
Slow movements
Slowness of movements
[ more ]
|
0002067 |
Clumsiness | 0002312 | |
Difficulty articulating speech
|
0001260 | |
Dyslexia |
Reading disability
|
0010522 |
Poor swallowing
Swallowing difficulties
Swallowing difficulty
[ more ]
|
0002015 | |
Eyelid apraxia |
Difficulty opening the eyelids
|
0000658 |
Focal |
0004373 | |
Frontotemporal cerebral atrophy | 0006892 | |
Frontotemporal |
0002145 | |
Generalized cerebral atrophy/hypoplasia |
Generalized cerebral degeneration/underdevelopment
|
0007058 |
Hyperreflexia |
Increased reflexes
|
0001347 |
Hypometric saccades | 0000571 | |
Hypomimic face |
Dull facial expression
|
0000338 |
Neurofibrillary tangles | 0002185 | |
Parkinsonism with favorable response to dopaminergic medication | 0002548 | |
Postural instability |
Balance impairment
|
0002172 |
Progressive extrapyramidal movement disorder | 0007153 | |
Rigidity |
Muscle rigidity
|
0002063 |
Involuntary muscle stiffness, contraction, or spasm
|
0001257 | |
Stiff hip |
Hip stiffness
|
0025262 |
Tremor | 0001337 | |
5%-29% of people have these symptoms | ||
Depressivity |
Depression
|
0000716 |
Global |
0001263 | |
Iron accumulation in brain | 0012675 | |
Myoclonus | 0001336 | |
Paranoia | 0011999 | |
Personality changes |
Personality change
|
0000751 |
0001250 | ||
Supranuclear gaze palsy | 0000605 | |
Percent of people who have these symptoms is not available through HPO | ||
Aggressive behavior |
Aggression
Aggressive behaviour
Aggressiveness
[ more ]
|
0000718 |
Apraxia | 0002186 | |
0000007 | ||
Dystonia | 0001332 | |
Elevated serum creatine kinase |
Elevated blood creatine phosphokinase
Elevated circulating creatine phosphokinase
Elevated creatine kinase
Elevated serum CPK
Elevated serum creatine phosphokinase
High serum creatine kinase
Increased CPK
Increased creatine kinase
Increased creatine phosphokinase
Increased serum CK
Increased serum creatine kinase
Increased serum creatine phosphokinase
[ more ]
|
0003236 |
Global brain atrophy |
Generalized brain degeneration
|
0002283 |
Parkinsonism | 0001300 | |
Rapidly progressive |
Worsening quickly
|
0003678 |
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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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