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Disease Profile

Spinocerebellar ataxia autosomal recessive 8

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 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of onset

Adult

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ICD-10

G11.2

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.

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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)

ARCA1; SCAR8; autosomal recessive spinocerebellar ataxia 8;

Categories

Congenital and Genetic Diseases; Nervous System Diseases

Summary

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 88644

Definition
A rare disorder characterised by a slowly progressive pure cerebellar ataxia associated with dysarthria. It has been described in 53 individuals from 26 families of Canadian origin. The mode of transmission is autosomal recessive. Positional cloning has led to the identification of several gene mutations.

Visit the Orphanet disease page for more resources.

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
Cerebellar atrophy
Degeneration of cerebellum
0001272
Gait disturbance
Abnormal gait
Abnormal walk
Impaired gait

[ more ]

0001288
30%-79% of people have these symptoms
Babinski sign
0003487
Fasciculations
Muscle twitch
0002380
Lower limb muscle weakness
Lower extremity weakness
Lower limb weakness
Muscle weakness in lower limbs

[ more ]

0007340
Lower limb spasticity
0002061
Motor delay
0001270
Reduced tendon reflexes
0001315
Short attention span
Poor attention span
Problem paying attention

[ more ]

0000736
Skeletal muscle atrophy
Muscle degeneration
Muscle wasting

[ more ]

0003202
5%-29% of people have these symptoms
Abnormality of the cerebral white matter
0002500
Ankle clonus
Abnormal rhythmic movements of ankle
0011448
Arm dystonia
0031960
Chronic axonal neuropathy
0007267
Clumsiness
0002312
Decreased fetal movement
Less than 10 fetal movements in 12 hours
0001558
Dysarthria
Difficulty articulating speech
0001260
Dysmetria
Lack of coordination of movement
0001310
EMG: neuropathic changes
0003445
Impaired smooth pursuit
0007772
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation

[ more ]

0001249
Kyphosis
Hunched back
Round back

[ more ]

0002808
Neonatal hypotonia
Low muscle tone, in neonatal onset
0001319
Ophthalmoparesis
Weakness of muscles controlling eye movement
0000597
Pes cavus
High-arched foot
0001761
Ptosis
Drooping upper eyelid
0000508
Scoliosis
0002650
Square-wave jerks
0025402
Strabismus
Cross-eyed
Squint
Squint eyes

[ more ]

0000486
Urinary incontinence
Loss of bladder control
0000020
1%-4% of people have these symptoms
Abnormality of the respiratory system
0002086
Atrophy/Degeneration affecting the brainstem
0007366
Impaired vibratory sensation
Decreased vibration sense
Decreased vibratory sense
Diminished vibratory sense
Impaired vibratory sense

[ more ]

0002495
Motor polyneuropathy
0007178
Peripheral axonal neuropathy
0003477
Polyneuropathy
Peripheral nerve disease
0001271
Sensory axonal neuropathy
0003390
Spasticity
Involuntary muscle stiffness, contraction, or spasm
0001257
Percent of people who have these symptoms is not available through HPO
Adult onset
Symptoms begin in adulthood
0003581
Autosomal recessive inheritance
0000007
Gait ataxia
Inability to coordinate movements when walking
0002066
Limb ataxia
0002070
Nystagmus
Involuntary, rapid, rhythmic eye movements
0000639
Slow progression
Signs and symptoms worsen slowly with time
0003677

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.

    In-Depth Information

    • 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.