National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Spinocerebellar ataxia 29


Other Names:
SCA29; Spinocerebellar ataxia type 29; Cerebellar vermis aplasia; SCA29; Spinocerebellar ataxia type 29; Cerebellar vermis aplasia; ACV; Cerebellar ataxia early-onset nonprogressive; Aplasia of cerebellar vermis; Congenital nonprogressive spinocerebellar ataxia See More
Categories:
This disease is grouped under:
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 208513

Definition
An autosomal dominant cerebellar ataxia type I that is characterized by very slowly progressive or non-progressive ataxia, dysarthria, oculomotor abnormalities and intellectual disability.

Epidemiology
Spinocerebellar ataxia type 29 (SCA29) prevalence is unknown. More than 50 cases have been reported in the literature to date.

Clinical description
SCA29 presents at birth, or shortly after, with manifestations including very slowly progressive or non-progressive gait and limb ataxia causing delayed walking and frequent falling in children. Mild developmental delay, learning difficulties, and language dysfunction are frequently reported. Other manifestations include nystagmus, dysarthria, dysmetria, and dysdiadochokinesia. Affected patients occasionally present with intention tremor, dystonia, and migraine headaches. Although the disease course is not well established, it appears to range from non-progressive or very slowly progressive ataxia (that does not affect ambulation) to progressively disabling ataxia. A slight improvement in cerebellar signs has been reported in some cases over time.

Etiology
SCA29 is due to mutations in the ITPR1 gene (3p26.1), which is also the causal gene of SCA15.

Diagnostic methods
Diagnosis is based on the characteristic clinical findings and molecular genetic testing. As the manifestations of SCA29 are not specific, diagnosis is only confirmed with the finding of a mutation in the ITPR1 gene.

Differential diagnosis
Differential diagnosis includes other types of autosomal dominant cerebellar ataxia.

Antenatal diagnosis
Antenatal diagnosis is possible in families with a known mutation.

Genetic counseling
SCA29 is inherited autosomal dominantly, occasionally autosomal recessively, and genetic counseling is possible.

Management and treatment
There is no cure for SCA29 and treatment is supportive. Annual neurological examinations are recommended to monitor disease progression.

Prognosis
Disease progression is very slow, but precise prognosis is unknown.

Visit the Orphanet disease page for more resources.
Last updated: 1/1/2020

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.

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Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Delayed fine motor development 0010862
Delayed gross motor development
Delayed motor skills
0002194
Delayed speech and language development
Deficiency of speech development
Delayed language development
Delayed speech
Delayed speech acquisition
Delayed speech development
Impaired speech and language development
Impaired speech development
Language delay
Language delayed
Language development deficit
Late-onset speech development
Poor language development
Speech and language delay
Speech and language difficulties
Speech delay
[ more ] 		0000750
Dysarthria
Difficulty articulating speech
0001260
Dysmetria
Lack of coordination of movement
0001310
Gait ataxia
Inability to coordinate movements when walking
0002066
Intention tremor 0002080
30%-79% of people have these symptoms
Abnormal saccadic eye movements 0000570
Cerebellar atrophy
Degeneration of cerebellum
0001272
Cerebellar vermis atrophy 0006855
Cognitive impairment
Abnormality of cognition
Cognitive abnormality
Cognitive defects
Cognitive deficits
Intellectual impairment
Mental impairment
[ more ] 		0100543
Delayed social development 0012434
Dysdiadochokinesis
Difficulty performing quick and alternating movements
0002075
Generalized hypotonia
Decreased muscle tone
Low muscle tone
[ more ] 		0001290
Nystagmus
Involuntary, rapid, rhythmic eye movements
0000639
Oculomotor apraxia 0000657
5%-29% of people have these symptoms
Global developmental delay 0001263
Visual fixation instability 0025405
Percent of people who have these symptoms is not available through HPO
Agenesis of cerebellar vermis 0002335
Autosomal dominant inheritance 0000006
Broad-based gait
Wide based walk
0002136
Congenital onset
Symptoms present at birth
0003577
Limb ataxia 0002070
Motor delay 0001270
Nonprogressive cerebellar ataxia 0002470
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Last updated: 7/1/2020

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

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • The Centers for Mendelian Genomics program is working to discover the causes of rare genetic disorders. For more information about applying to the research study, please visit their website.

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

Social Networking Websites

Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

Financial Resources

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

  • 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 29. Click on the link to view a sample search on this topic.

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