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Disease Profile
Spinocerebellar ataxia 1
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
1-9 / 100 000
Age of onset
All ages
ICD-10
G11.8
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
SCA1; Spinocerebellar ataxia type 1; Olivopontocerebellar atrophy 1;
Categories
Congenital and Genetic Diseases; Nervous System Diseases
Summary
Spinocerebellar
Symptoms
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 | ||
Progressive cerebellar |
0002073 | |
30%-79% of people have these symptoms | ||
Abnormal flash visual evoked potentials | 0007928 | |
Abnormal nerve conduction velocity | 0040129 | |
Abnormality of somatosensory evoked potentials | 0007377 | |
Atrophy/Degeneration affecting the brainstem | 0007366 | |
Bradykinesia |
Slow movements
Slowness of movements
[ more ] |
0002067 |
Bulbar signs | 0002483 | |
Cerebellar atrophy |
Degeneration of cerebellum
|
0001272 |
Chorea | 0002072 | |
Difficulty articulating speech
|
0001260 | |
Poor swallowing
Swallowing difficulties
Swallowing difficulty
[ more ] |
0002015 | |
0001332 | ||
Inertia | 0030216 | |
Loss of Purkinje |
0007001 | |
Memory impairment |
Forgetfulness
Memory loss
Memory problems
Poor memory
[ more ] |
0002354 |
Slow saccadic eye movements |
Slow eye movements
|
0000514 |
Slurred speech | 0001350 | |
Staring gaze | 0025401 | |
Upgaze palsy | 0025331 | |
5%-29% of people have these symptoms | ||
Abnormality of masticatory muscle | 0410011 | |
Dysdiadochokinesis |
Difficulty performing quick and alternating movements
|
0002075 |
Dysmetria |
Lack of coordination of movement
|
0001310 |
Fasciculations |
Muscle twitch
|
0002380 |
Gait imbalance |
Abnormality of balance
Abnormality of equilibrium
Imbalanced walk
[ more ] |
0002141 |
Generalized |
Decreased muscle tone
Low muscle tone
[ more ] |
0001290 |
Hyperactive deep tendon reflexes | 0006801 | |
Hypermetric saccades | 0007338 | |
Hyporeflexia |
Decreased reflex response
Decreased reflexes
[ more ] |
0001265 |
Impaired proprioception | 0010831 | |
Involuntary, rapid, rhythmic eye movements
|
0000639 | |
Ophthalmoparesis |
Weakness of muscles controlling eye movement
|
0000597 |
Optic atrophy | 0000648 | |
Postural tremor | 0002174 | |
Respiratory failure | 0002878 | |
Skeletal muscle atrophy |
Muscle degeneration
Muscle wasting
[ more ] |
0003202 |
1%-4% of people have these symptoms | ||
Decreased amplitude of sensory action potentials | 0007078 | |
Decreased motor nerve conduction velocity | 0003431 | |
Decreased sensory nerve conduction velocity | 0003448 | |
Percent of people who have these symptoms is not available through HPO | ||
Abnormality of extrapyramidal motor function | 0002071 | |
Adult onset |
Symptoms begin in adulthood
|
0003581 |
Areflexia |
Absent tendon reflexes
|
0001284 |
0000006 | ||
Babinski sign | 0003487 | |
Bulbar palsy | 0001283 | |
Cognitive impairment |
Abnormality of cognition
Cognitive abnormality
Cognitive defects
Cognitive deficits
Intellectual impairment
Mental impairment
[ more ] |
0100543 |
Dilated fourth ventricle | 0002198 | |
Distal amyotrophy |
Distal muscle wasting
|
0003693 |
Dorsal column degeneration | 0007006 | |
Dysmetric saccades |
Uncoordinated eye movement
|
0000641 |
Gaze-evoked nystagmus | 0000640 | |
Genetic |
0003744 | |
Hyperreflexia |
Increased reflexes
|
0001347 |
Impaired horizontal smooth pursuit | 0001151 | |
Impaired vibratory sensation |
Decreased vibration sense
Decreased vibratory sense
Diminished vibratory sense
Impaired vibratory sense
[ more ] |
0002495 |
Limb ataxia | 0002070 | |
Muscular hypotonia |
Low or weak muscle tone
|
0001252 |
Olivopontocerebellar atrophy | 0002542 | |
Optic disc pallor | 0000543 | |
Scanning speech |
Explosive speech
|
0002168 |
Involuntary muscle stiffness, contraction, or spasm
|
0001257 | |
Spinocerebellar atrophy | 0007263 | |
Spinocerebellar tract degeneration | 0002503 | |
Supranuclear ophthalmoplegia | 0000623 | |
Truncal ataxia |
Instability or lack of coordination of central trunk muscles
|
0002078 |
Urinary bladder sphincter dysfunction | DiagnosisMaking 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. Testing Resources
OrganizationsSupport 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. Organizations Supporting this Disease
Learn moreThese 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. Where to Start
In-Depth Information
References
Rare Nephrology News |