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Disease Profile

Autosomal recessive spinocerebellar ataxia 9

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

Childhood

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ICD-10

G11.1

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)

Autosomal recessive ataxia due to ubiquinone deficiency; ARCA2; Autosomal recessive ataxia due to coenzyme Q10 deficiency;

Categories

Congenital and Genetic Diseases; Metabolic disorders; 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: 139485

Definition
This syndrome is characterised by childhood-onset progressive ataxia and cerebellar atrophy.

Epidemiology
Prevalence is unknown.

Clinical description
Exercise intolerance with elevated lactate levels and mild intellectual deficit may also be present.

Etiology
The syndrome is caused by ubiquinone deficiency. Mutations in the ADCK3/CABC1 gene have been detected in affected individuals. This gene is already known to play a role in ubiquinone biosynthesis in yeast.

Genetic counseling
The syndrome is transmitted as an autosomal recessive trait.

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
Progressive cerebellar ataxia
0002073
30%-79% of people have these symptoms
Brisk reflexes
0001348
Central hypotonia
0011398
Developmental regression
Loss of developmental milestones
Mental deterioration in childhood

[ more ]

0002376
Exercise intolerance
Decreased ability to exercise
Inability to exercise

[ more ]

0003546
Focal T2 hypointense basal ganglia lesion
0012752
Intellectual disability, moderate
IQ between 34 and 49
0002342
Proximal muscle weakness
Weakness in muscles of upper arms and upper legs
0003701
Talipes cavus equinovarus
0004696
5%-29% of people have these symptoms
Abnormal pyramidal sign
0007256
EMG abnormality
0003457
Increased CSF lactate
0002490
Increased serum lactate
0002151
Lactic acidosis
Increased lactate in body
0003128
Myoclonus
0001336
Neurodevelopmental delay
0012758
Seizure
0001250
Strabismus
Cross-eyed
Squint
Squint eyes

[ more ]

0000486
Tremor
0001337
1%-4% of people have these symptoms
Dystonia
0001332
Gynecomastia
Enlarged male breast
0000771
Hearing impairment
Deafness
Hearing defect

[ more ]

0000365

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

    • Genetics Home Reference (GHR) contains information on Autosomal recessive spinocerebellar ataxia 9. This website is maintained by the National Library of Medicine.

      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.
      • 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 Autosomal recessive spinocerebellar ataxia 9. Click on the link to view a sample search on this topic.