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Spinocerebellar ataxia 28


Title




Other Names:
SCA28; Spinocerebellar ataxia type 28
Categories:
Congenital and Genetic Diseases; Metabolic disorders; Nervous System Diseases
This disease is grouped under:
Hereditary ataxia; Spinocerebellar ataxia

Summary Summary


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Spinocerebellar ataxia 28 (SCA28)is a slowly progressive movement disorder that typically begins in early adulthood (but can affect children and older adults as well). Early signs and symptoms include problems with coordination and balance when walking (gait ataxia), speech and swallowing difficulties (dysarthria), over-reactive reflex reactions in knees and ankles (hyperreflexia), weakness in the muscles that control eye movement (ophthalmoparesis), uncontrolled movement of the eye (nystagmus) and drooping eyelid (ptosis). The symptoms worsen very slowly over time. SCA28 is caused by changes in the AFG3L2 gene and is inherited in an autosomal dominant fashion. There is currently not a cure for SCA28, but treatments are available to help manage symptoms.[1][2][3]
Last updated: 5/17/2016

Symptoms Symptoms


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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.

Showing of 24 |
Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Dysarthria
Difficulty articulating speech
0001260
Gait ataxia
Inability to coordinate movements when walking
0002066
Limb ataxia 0002070
Lower limb hyperreflexia
Overactive lower leg reflex
0002395
30%-79% of people have these symptoms
Babinski sign 0003487
Nystagmus
Involuntary, rapid, rhythmic eye movements
0000639
Ophthalmoparesis
Weakness of muscles controlling eye movement
0000597
Ptosis
Drooping upper eyelid
0000508
Slow saccadic eye movements
Slow eye movements
0000514
5%-29% of people have these symptoms
Dystonia 0001332
Kinetic tremor 0030186
Parkinsonism 0001300
1%-4% of people have these symptoms
Depressivity
Depression
0000716
Head tremor 0002346
Limb dystonia 0002451
Memory impairment
Forgetfulness
Memory loss
Memory problems
Poor memory
[ more ]
0002354
Rigidity
Muscle rigidity
0002063
Spasticity
Involuntary muscle stiffness, contraction, or spasm
0001257
Percent of people who have these symptoms is not available through HPO
Autosomal dominant inheritance 0000006
Cerebellar atrophy
Degeneration of cerebellum
0001272
Dysmetric saccades
Uncoordinated eye movement
0000641
Gaze-evoked nystagmus 0000640
Hypertonia 0001276
Slow progression
Signs and symptoms worsen slowly with time
0003677
Showing of 24 |
Do you have more information about symptoms of this disease? We want to hear from you.
Last updated: 2/1/2021
Do you have updated information on this disease? We want to hear from you.

Diagnosis Diagnosis


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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.

Find a Specialist Find a Specialist


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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

  • To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from MedlinePlus Genetics.
  • The National Ataxia Foundation, a nonprofit organization dedicated to improving the lives of persons affected by ataxia, provides lists of neurologists, ataxia clinics, and movement disorder clinics.

Organizations Organizations


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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

  • Ataxia UK
    12 Broadbent Close
    London, N6 5JW United Kingdom
    Toll-free: 0845 644 0606 (Helpline)
    Telephone: 020 7582 1444
    E-mail: helpline@ataxia.org.uk
    Website: https://www.ataxia.org.uk/
  • euro-ATAXIA (European Federation of Hereditary Ataxias)
    Website: https://www.euroataxia.org/
  • 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/
Do you know of an organization? We want to hear from you.

Living With Living With


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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

  • The Social Security Administration has included this condition in their Compassionate Allowances Initiative. This initiative speeds up the processing of disability claims for applicants with certain medical conditions that cause severe disability. More information about Compassionate Allowances and applying for Social Security disability is available online.

Learn More Learn More


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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

  • The National Center for Biotechnology Information (NCBI) was established in 1988 as a national resource for molecular biology information.  Click on the link to view information on this topic.

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

News & Events News & Events


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News

  • Rare Disease Day at NIH 2021
    March 1, 2021

GARD Answers GARD Answers


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Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

Have a question? Contact a GARD Information Specialist.

References References


  1. Brussino A, Brusco A, and Dürr A. Spinocerebellar Ataxia Type 28. GeneReviews. February 7 2013; https://www.ncbi.nlm.nih.gov/books/NBK54582/.
  2. Mariotti C, Bella DD, Di Donato S, and Taroni F. Spinocerebellar Ataxia Type 28. Handb Clin Neurol. 2012; 103:575-579. http://www.ncbi.nlm.nih.gov/pubmed/21827917.
  3. Qu J, Wu CK, Zuzuárregui JR, and Hohler AD. A novel AFG3L2 mutation in a Somalian patient with spinocerebellar ataxia type 28. J Neurol Sci. November 15 2015; 358(1-2):530-531. http://www.ncbi.nlm.nih.gov/pubmed/26454370.
Do you know of a review article? We want to hear from you.
You can help advance
rare disease research!
You can help advance rare disease research!
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