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 | ||
Gait disturbance |
Abnormal gait
Abnormal walk
Impaired gait
[ more ]
|
0001288 |
Iris hypopigmentation |
Light eye color
|
0007730 |
30%-79% of people have these symptoms | ||
Abnormal cranial nerve morphology | 0001291 | |
Abnormality of the foot |
Abnormal feet morphology
Abnormality of the feet
Foot deformities
Foot deformity
[ more ]
|
0001760 |
Choreoathetosis | 0001266 | |
Constipation | 0002019 | |
Poor swallowing
Swallowing difficulties
Swallowing difficulty
[ more ]
|
0002015 | |
Gastroesophageal reflux |
Acid reflux
Acid reflux disease
Heartburn
[ more ]
|
0002020 |
Hyperreflexia |
Increased reflexes
|
0001347 |
Recurrent respiratory infections |
Frequent respiratory infections
Multiple respiratory infections
respiratory infections, recurrent
Susceptibility to respiratory infections
[ more ]
|
0002205 |
Rigidity |
Muscle rigidity
|
0002063 |
Spasticity |
Involuntary muscle stiffness, contraction, or spasm
|
0001257 |
Tremor | 0001337 | |
5%-29% of people have these symptoms | ||
Abnormality of skin pigmentation |
Abnormal pigmentation
Abnormal skin color
Abnormal skin pigmentation
Abnormality of pigmentation
Pigmentary changes
Pigmentary skin changes
Pigmentation anomaly
[ more ]
|
0001000 |
Akinesia | 0002304 | |
Bradykinesia |
Slow movements
Slowness of movements
[ more ]
|
0002067 |
Cachexia |
Wasting syndrome
|
0004326 |
Dementia, progressive
Progressive dementia
[ more ]
|
0000726 | |
Depressivity |
Depression
|
0000716 |
Loss of developmental milestones
Mental deterioration in childhood
[ more ]
|
0002376 | |
Dysarthria |
Difficulty articulating speech
|
0001260 |
Dysphonia |
Inability to produce voice sounds
|
0001618 |
Failure to thrive |
Faltering weight
Weight faltering
[ more ]
|
0001508 |
Joint dislocation |
Joint dislocations
Recurrent joint dislocations
[ more ]
|
0001373 |
Obsessive-compulsive |
Obsessive-compulsive traits
|
0008770 |
0001250 | ||
Visual impairment |
Impaired vision
Loss of eyesight
Poor vision
[ more ]
|
0000505 |
Percent of people who have these symptoms is not available through HPO | ||
Abnormal pyramidal sign | 0007256 | |
Acanthocytosis | 0001927 | |
0001251 | ||
0000007 | ||
Blepharospasm |
Eyelid spasm
Eyelid twitching
Involuntary closure of eyelid
Spontaneous closure of eyelid
[ more ]
|
0000643 |
Cerebral degeneration | 0007313 | |
Decreased muscle mass | 0003199 | |
Eye of the tiger anomaly of globus pallidus | 0002454 | |
Eyelid apraxia |
Difficulty opening the eyelids
|
0000658 |
Facial grimacing | 0000273 | |
Feeding difficulties in infancy | 0008872 | |
Global brain atrophy |
Generalized brain degeneration
|
0002283 |
Global |
0001263 | |
Hyperactivity |
More active than typical
|
0000752 |
Hyperpigmentation of the skin |
Patchy darkened skin
|
0000953 |
Motor tics | 0100034 | |
Myopathy |
Muscle tissue disease
|
0003198 |
Neurodegeneration |
Ongoing loss of nerve cells
|
0002180 |
Optic atrophy | 0000648 | |
Orofacial dyskinesia | 0002310 | |
Palilalia | 0031814 | |
Parkinsonism | 0001300 | |
Pigmentary retinopathy | 0000580 | |
Rapidly progressive |
Worsening quickly
|
0003678 |
Retinal degeneration |
Retina degeneration
|
0000546 |
Urinary incontinence |
Loss of bladder control
|
0000020 |
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 diagnoses include Wilson disease (see this term), which is excluded by normal plasma ceruloplasmin concentration or copper metabolism, and other types of NBIA, which can be differentiated using MRI findings and genetic testing.
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.
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.
NIH-Supported Research Survey to Examine Impact of COVID-19 on Rare Diseases Community
May 22, 2020
NCATS Translational Approach Addresses COVID-19
May 21, 2020
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
I am looking for treatment information for PKAN. My brother was diagnosed with it a little over a year ago. It started about age 3 with all the classic signs. He now is in very bad shape. I am looking for any help. He may start a clinical trial of deferiprone treatment if approved by the FDA. See answer