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 | ||
| Bulbar palsy | 0001283 | |
| Progressive hearing impairment | 0001730 | |
| 30%-79% of people have these symptoms | ||
| Abnormality of eye movement |
Abnormal eye movement
Abnormal eye movements
Eye movement abnormalities
Eye movement issue
[ more ]
|
0000496 |
|
Difficulty articulating speech
|
0001260 | |
|
Poor swallowing
Swallowing difficulties
Swallowing difficulty
[ more ]
|
0002015 | |
| Facial palsy |
Bell's palsy
|
0010628 |
| Hyporeflexia |
Decreased reflex response
Decreased reflexes
[ more ]
|
0001265 |
| Limb muscle weakness |
Limb weakness
|
0003690 |
| Muscular |
Low or weak muscle tone
|
0001252 |
| Myoclonus | 0001336 | |
|
Drooping upper eyelid
|
0000508 | |
| Respiratory insufficiency |
Respiratory impairment
|
0002093 |
| Skeletal muscle atrophy |
Muscle degeneration
Muscle wasting
[ more ]
|
0003202 |
| 5%-29% of people have these symptoms | ||
| Abnormal autonomic nervous system physiology | 0012332 | |
| Abnormality of macular pigmentation | 0008002 | |
| Aggressive behavior |
Aggression
Aggressive behaviour
Aggressiveness
[ more ]
|
0000718 |
| 0001251 | ||
| Cachexia |
Wasting syndrome
|
0004326 |
| Cerebral cortical atrophy |
Decrease in size of the outer layer of the brain due to loss of brain cells
|
0002120 |
| Color vision defect |
Abnormal color vision
Abnormality of color vision
[ more ]
|
0000551 |
| Diabetes insipidus | 0000873 | |
|
Enlarged male breast
|
0000771 | |
| Hallucinations |
Hallucination
Sensory hallucination
[ more ]
|
0000738 |
| 0000822 | ||
|
Decreased activity of gonads
|
0000135 | |
|
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
|
0001249 | |
| Iris hypopigmentation |
Light eye color
|
0007730 |
| Optic disc pallor | 0000543 | |
|
Seizure
|
0001250 | |
| Sleep apnea |
Pauses in breathing while sleeping
|
0010535 |
| Tremor | 0001337 | |
| Visual impairment |
Impaired vision
Loss of eyesight
Poor vision
[ more ]
|
0000505 |
| Percent of people who have these symptoms is not available through HPO | ||
| Abnormal cerebellum morphology |
Abnormality of the cerebellum
Cerebellar abnormalities
Cerebellar abnormality
Cerebellar anomaly
[ more ]
|
0001317 |
| Ankle clonus |
Abnormal rhythmic movements of ankle
|
0011448 |
| 0000007 | ||
| Clumsiness | 0002312 | |
| Cranial nerve motor loss | 0007097 | |
| Diaphragmatic weakness |
Weak diaphragm
|
0009113 |
| External ophthalmoplegia |
Paralysis or weakness of muscles within or surrounding outer part of eye
|
0000544 |
| Hand muscle atrophy |
Hand muscle degeneration
|
0009130 |
| Juvenile onset |
Signs and symptoms begin before 15 years of age
|
0003621 |
| Knee clonus | 0011449 | |
| Kyphosis |
Hunched back
Round back
[ more ]
|
0002808 |
| Myopathic facies | 0002058 | |
| Neck muscle weakness |
Floppy neck
|
0000467 |
| Nocturnal hypoventilation | 0002877 | |
| 0009830 | ||
| Progressive |
Worsens with time
|
0003676 |
| Proximal muscle weakness |
Weakness in muscles of upper arms and upper legs
|
0003701 |
| Recurrent respiratory infections |
Frequent respiratory infections
Multiple respiratory infections
respiratory infections, recurrent
Susceptibility to respiratory infections
[ more ]
|
0002205 |
| Respiratory distress |
Breathing difficulties
Difficulty breathing
[ more ]
|
0002098 |
| 0002650 | ||
| Sensorineural hearing impairment | 0000407 | |
| Stridor | 0010307 | |
| Tongue atrophy |
Wasting of the tongue
|
0012473 |
| Tongue fasciculations |
Tongue twitching
Twitching of the tongue
[ more ]
|
0001308 |
| Vocal cord paralysis |
Inability to move vocal cords
|
0001605 |
| Weak voice |
Soft voice
|
0001621 |
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 diagnosis include neuromuscular diseases like some forms of congenital or mitochondrial myopathy and rapidly progressive neuropathies.
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.
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 causes riboflavin transporter deficiency? Is genetic testing for this available? Who can I talk to if a diagnosis of riboflavin transporter deficiency is suspected in a friend or family member? How can I learn more about research? See answer
