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Disease Profile
Spinocerebellar ataxia autosomal recessive 8
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
Age of onset
Adult
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.
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)
ARCA1; SCAR8; autosomal recessive spinocerebellar ataxia 8;
Categories
Congenital and Genetic Diseases; Nervous System Diseases
Summary
Orpha Number: 88644
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 |
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 |
0031960 | |
| Chronic axonal neuropathy | 0007267 | |
| Clumsiness | 0002312 | |
| Decreased fetal movement |
Less than 10 fetal movements in 12 hours
|
0001558 |
|
Difficulty articulating speech
|
0001260 | |
| Dysmetria |
Lack of coordination of movement
|
0001310 |
| EMG: neuropathic changes | 0003445 | |
| Impaired smooth pursuit | 0007772 | |
|
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 | |
| Kyphosis |
Hunched back
Round back
[ more ] |
0002808 |
| Neonatal |
Low muscle tone, in neonatal onset
|
0001319 |
| Ophthalmoparesis |
Weakness of muscles controlling eye movement
|
0000597 |
| Pes cavus |
High-arched foot
|
0001761 |
|
Drooping upper eyelid
|
0000508 | |
| 0002650 | ||
| Square-wave jerks | 0025402 | |
|
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 |
| 0000007 | ||
| Gait |
Inability to coordinate movements when walking
|
0002066 |
| Limb ataxia | 0002070 | |
|
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
-
National Ataxia Foundation
600 Highway 169 South
Suite 1725
Minneapolis, MN 55426
Telephone: +1-763-553-0020
Fax: +1-763-553-0167
E-mail: naf@ataxia.org
Website: https://ataxia.org/
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.