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 | ||
|
Loss of developmental milestones
Mental deterioration in childhood
[ more ]
|
0002376 | |
| Muscular |
Low or weak muscle tone
|
0001252 |
| 30%-79% of people have these symptoms | ||
| Cachexia |
Wasting syndrome
|
0004326 |
| Infantile onset |
Onset in first year of life
Onset in infancy
[ more ]
|
0003593 |
| Visual impairment |
Impaired vision
Loss of eyesight
Poor vision
[ more ]
|
0000505 |
| 1%-4% of people have these symptoms | ||
| Areflexia |
Absent tendon reflexes
|
0001284 |
| Decreased nerve conduction velocity | 0000762 | |
| Percent of people who have these symptoms is not available through HPO | ||
| Abnormal pyramidal sign | 0007256 | |
| Abnormality of metabolism/homeostasis |
Laboratory abnormality
Metabolism abnormality
[ more ]
|
0001939 |
| Abnormality of visual evoked potentials | 0000649 | |
| 0001251 | ||
| 0000007 | ||
| Babinski sign | 0003487 | |
| Bradykinesia |
Slow movements
Slowness of movements
[ more ]
|
0002067 |
| Cerebellar atrophy |
Degeneration of cerebellum
|
0001272 |
| Cerebral atrophy |
Degeneration of cerebrum
|
0002059 |
| Childhood onset |
Symptoms begin in childhood
|
0011463 |
| Chorea | 0002072 | |
| Delayed speech and language development |
Deficiency of speech development
Delayed language development
Delayed speech
Delayed speech acquisition
Delayed speech development
Impaired speech and language development
Impaired speech development
Language delay
Language delayed
Language development deficit
Late-onset speech development
Poor language development
Speech and language delay
Speech and language difficulties
Speech delay
[ more ]
|
0000750 |
|
Difficulty articulating speech
|
0001260 | |
| Dysdiadochokinesis | 0002075 | |
| Dysmetria |
Lack of coordination of movement
|
0001310 |
|
Poor swallowing
Swallowing difficulties
Swallowing difficulty
[ more ]
|
0002015 | |
| 0001332 | ||
| EMG: chronic denervation signs | 0003444 | |
| Emotional lability |
Emotional instability
|
0000712 |
| Feeding difficulties |
Feeding problems
Poor feeding
[ more ]
|
0011968 |
| Frontal bossing | 0002007 | |
| Gait ataxia |
Inability to coordinate movements when walking
|
0002066 |
| Generalized hypotonia |
Decreased muscle tone
Low muscle tone
[ more ]
|
0001290 |
| Generalized muscle weakness | 0003324 | |
| Gliosis | 0002171 | |
| Global |
0001263 | |
| Hearing impairment |
Deafness
Hearing defect
[ more ]
|
0000365 |
| Hyperactivity |
More active than typical
|
0000752 |
| Hyperreflexia |
Increased reflexes
|
0001347 |
| Hypertonia | 0001276 | |
| Impaired smooth pursuit | 0007772 | |
| Impulsivity |
Impulsive
|
0100710 |
|
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
|
0001249 | |
| Intention tremor | 0002080 | |
| Lewy bodies | 0100315 | |
| Mental deterioration |
Cognitive decline
Cognitive decline, progressive
Intellectual deterioration
Progressive cognitive decline
[ more ]
|
0001268 |
|
Little lower jaw
Small jaw
Small lower jaw
[ more ]
|
0000347 | |
| Morphological abnormality of the pyramidal tract | 0002062 | |
| Neurodegeneration | 0002180 | |
| Neurofibrillary tangles | 0002185 | |
| Neuronal loss in |
Loss of brain cells
|
0002529 |
|
Involuntary, rapid, rhythmic eye movements
|
0000639 | |
| Optic atrophy | 0000648 | |
| Progressive |
Worsens with time
|
0003676 |
| Prominent forehead |
Pronounced forehead
Protruding forehead
[ more ]
|
0011220 |
|
Seizure
|
0001250 | |
| Short attention span |
Poor attention span
Problem paying attention
[ more ]
|
0000736 |
| Short nose |
Decreased length of nose
Shortened nose
[ more ]
|
0003196 |
| Spastic tetraplegia | 0002510 | |
|
Involuntary muscle stiffness, contraction, or spasm
|
0001257 | |
|
Cross-eyed
Squint
Squint eyes
[ more ]
|
0000486 | |
| Talipes calcaneovalgus | 0001884 | |
| Unsteady gait |
Unsteady walk
|
0002317 |
| Visual loss |
Loss of vision
Vision loss
[ more ]
|
0000572 |
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 infantile neuronal ceroid-lipofuscinosis, ataxia-telangectasia, and hereditary ataxia (see these terms), although cerebellar atrophy usually presents later for these disorders, other forms of NBIA, including pantothenate kinase-associated neurodegeneration (PKAN; see this term) which is characterized by an ``eye of the tiger'' sign not observed in INAD, infantile GM2 gangliosidosis, Niemann-Pick disease type C, autism and Menkes disease (see these terms).
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.
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
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.
The NIH Undiagnosed Diseases Network Expands
September 26, 2018
NBIA Disorders Association Announces Research Grants for Neurodegeneration with Brain Iron Accumulation (NBIA)
February 19, 2015
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.
