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The rate of progression varies from person to person. Generally, within 10 to 20 years after the first symptoms appear, people with Friedreich ataxia need to consistently use a wheelchair. Life expectancy may be affected, and many people with Friedreich ataxia die in adulthood from the associated heart disease. However, some people with less severe symptoms of Friedreich ataxia live much longer, sometimes into their sixties or seventies[2].
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 |
|---|---|---|
| 100% of people have these symptoms | ||
| Gait ataxia |
Inability to coordinate movements when walking
|
0002066 |
| 80%-99% of people have these symptoms | ||
| Babinski sign | 0003487 | |
| Dysarthria |
Difficulty articulating speech
|
0001260 |
| Gait imbalance |
Abnormality of balance
Abnormality of equilibrium
Imbalanced walk
[ more ]
|
0002141 |
| Hand muscle atrophy |
Hand muscle degeneration
|
0009130 |
| Impaired proprioception | 0010831 | |
| Limb ataxia | 0002070 | |
| 30%-79% of people have these symptoms | ||
| Abnormal saccadic eye movements | 0000570 | |
| Areflexia of lower limbs | 0002522 | |
| Cardiomyopathy |
Disease of the heart muscle
|
0001638 |
| Cervical spinal cord atrophy | 0010873 | |
| Dysmetria |
Lack of coordination of movement
|
0001310 |
| Falls | 0002527 | |
| Impaired visually enhanced vestibulo-ocular reflex | 0030183 | |
| Intention tremor | 0002080 | |
| Muscle weakness |
Muscular weakness
|
0001324 |
| Nystagmus |
Involuntary, rapid, rhythmic eye movements
|
0000639 |
| Optic atrophy | 0000648 | |
| Pes cavus |
High-arched foot
|
0001761 |
| Poor fine motor coordination | 0007010 | |
| Scoliosis | 0002650 | |
| Sensory axonal neuropathy | 0003390 | |
| Urinary bladder sphincter dysfunction | 0002839 | |
| 5%-29% of people have these symptoms | ||
| Chorea | 0002072 | |
| Decreased motor nerve conduction velocity | 0003431 | |
| Diabetes mellitus | 0000819 | |
|
Poor swallowing
Swallowing difficulties
Swallowing difficulty
[ more ]
|
0002015 | |
| 0001332 | ||
| Hearing impairment |
Deafness
Hearing defect
[ more ]
|
0000365 |
| Inability to walk | 0002540 | |
| Incomprehensible speech | 0002546 | |
| Reduced visual acuity |
Decreased clarity of vision
|
0007663 |
|
Involuntary muscle stiffness, contraction, or spasm
|
0001257 | |
| Percent of people who have these symptoms is not available through HPO | ||
| Abnormal echocardiogram |
Abnormal echocardiography
|
0003116 |
| Abnormal EKG |
Abnormal ECG
|
0003115 |
| Abnormality of visual evoked potentials | 0000649 | |
| 0000007 | ||
| Congestive heart failure |
Cardiac failure
Cardiac failures
Heart failure
[ more ]
|
0001635 |
| Decreased amplitude of sensory action potentials | 0007078 | |
| Decreased pyruvate carboxylase activity | 0003209 | |
| Decreased sensory nerve conduction velocity | 0003448 | |
| Hypertrophic cardiomyopathy |
Enlarged and thickened heart muscle
|
0001639 |
| Impaired vibratory sensation |
Decreased vibration sense
Decreased vibratory sense
Diminished vibratory sense
Impaired vibratory sense
[ more ]
|
0002495 |
| Juvenile onset |
Signs and symptoms begin before 15 years of age
|
0003621 |
| Mitochondrial malic |
0003232 | |
| Sensory neuropathy |
Damage to nerves that sense feeling
|
0000763 |
| Visual field defect |
Partial loss of field of vision
|
0001123 |
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.
The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your 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 Charcot-Marie-Tooth type 1 and 2, ataxia with vitamin E deficiency, ataxia-oculomotor apraxia type 1 and 2 and other early-onset ataxias.
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.
NORD RareLaunch® Workshops
December 1, 2020
Rare Diseases Are Not Rare - Gallery of Creative Work Raises Awareness of Rare Diseases
September 1, 2020
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
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