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||
|80%-99% of people have these symptoms|
|30%-79% of people have these symptoms|
Slowness of movements[ more ]
Inability to produce voice sounds
Impaired gait[ more ]
|5%-29% of people have these symptoms|
|Abnormality of eye movement||
Abnormal eye movement
Abnormal eye movements
Eye movement abnormalities
Eye movement issue[ more ]
Psychiatric disturbances[ more ]
Progressive dementia[ more ]
Loss of developmental milestones
Mental deterioration in childhood[ more ]
Swallowing difficulty[ more ]
Low blood pressure
Mental retardation, nonspecific
Mental-retardation[ more ]
|Percent of people who have these symptoms is not available through HPO|
|Abnormal cerebellum morphology||
Abnormality of the cerebellum
Cerebellar anomaly[ more ]
|Abnormality of metabolism/homeostasis||
Metabolism abnormality[ more ]
Loss of articulate speech
Involuntary closure of eyelid
Spontaneous closure of eyelid[ more ]
|Cavitation of the basal ganglia||0007007|
|Decreased serum ferritin||
Low ferritin level
Reduced serum ferritin[ more ]
Difficulty articulating speech
Disorder of involuntary muscle movements
Dull facial expression
Inability to speak
Muteness[ more ]
Ongoing loss of nerve cells
Worsens with time
Involuntary muscle stiffness, contraction, or spasm
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 Huntington disease and spinocerebellar ataxia type 17 (see these terms), although neither has the characteristic findings on neuroimaging; choreoacanthocytosis and McLeod neuroacanthocytosis syndrome (see these terms), although, unlike in these two diseases, the reflexes are preserved in neuroferritinopathy, and juvenile-onset Parkinson disease, aceruloplasminemia and Neimann-Pick type C (see these terms), although these disorders do not show the characteristic neuroimaging of neuroferritinopathy. The MRI findings are similar to those found in pantothenate kinase-associated neurodegeneration (PKAN; see this term). Individuals with neuroferritinopathy also show the 'eye of the tiger'' sign.
Visit the Orphanet disease page for more information.
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.
NORD RareLaunch® Workshops
December 1, 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 was recently diagnosed with neuroferritinopathy. Should I be avoiding foods that are high in iron such as liver, black pudding, cabbage and broccoli? See answer