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Disease Profile

Spinocerebellar ataxia 1

Prevalence
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

3,310 - 29,790

US Estimated

1-9 / 100 000

5,135 - 46,215

Europe Estimated

Age of onset

All ages

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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

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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

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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.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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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.

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Not applicable

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Other names (AKA)

SCA1; Spinocerebellar ataxia type 1; Olivopontocerebellar atrophy 1;

Categories

Congenital and Genetic Diseases; Nervous System Diseases

Summary

Spinocerebellar ataxia type 1 (SCA1) is a progressive movement disorder that typically begins in early adulthood (but can affect children and older adults as well). Early signs and symptoms includes problems with coordination and balance (ataxia), speech and swallowing difficulties, muscle stiffness, and weakness in the muscles that control eye movement. Over time, SCA1 may cause mental impairment, numbness, tingling, or pain in the arms and legs and uncontrolled muscle tensing, wasting, and twitches. SCA1 is caused by changes in the ATXN1 gene and is inherited in an autosomal dominant fashion. There is currently not a cure for SCA1, but treatments are available to help manage symptoms. People with SCA1 typically survive 10 to 30 years after symptoms first appear.[1][2]

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 ataxia
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
Dysarthria
Difficulty articulating speech
0001260
Dysphagia
Poor swallowing
Swallowing difficulties
Swallowing difficulty

[ more ]

0002015
Dystonia
0001332
Inertia
0030216
Loss of Purkinje cells in the cerebellar vermis
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 hypotonia
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
Nystagmus
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
Autosomal dominant inheritance
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 anticipation with paternal anticipation bias
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
Spasticity
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

Diagnosis

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.

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
  • Spinocerebellar Ataxia: Making an Informed Choice about Genetic Testing is a booklet providing information about spinocerebellar ataxia and is available as a PDF document on the University of Washington Medical Center Web site. Click on the title above to view this resource.

    Organizations

    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.

    Organizations Supporting this Disease

      Learn more

      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.

      Where to Start

        In-Depth Information

        • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
        • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
        • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
        • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
        • PubMed is a searchable database of medical literature and lists journal articles that discuss Spinocerebellar ataxia 1. Click on the link to view a sample search on this topic.

          References

          1. Spinocerebellar ataxia type 1. Genetic Home Reference. Reviewed February 2011; https://ghr.nlm.nih.gov/condition/spinocerebellar-ataxia-type-1. Accessed 2/24/2016.
          2. Bird TD. Hereditary Ataxia Overview. GeneReviews. November 26, 2014; https://www.ncbi.nlm.nih.gov/books/NBK1138/. Accessed 2/17/2015.
          3. Frequently asked questions about sporadic ataxia and multiple system atrophy (MSA). National Ataxia Foundation. https://www.ataxia.org/pdf/Sporadic.pdf. Accessed 2/24/2016.
          4. Mähler A et al.,. Increased catabolic state in spinocerebellar ataxia type 1 patients. Cerebellum. 2014 Aug; 13(4):440-6. Accessed 2/24/2016.

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