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

Autosomal recessive spastic ataxia 4


Other Names:
SPAX4; Spastic ataxia 4, autosomal recessive; Autosomal recessive spastic ataxia - optic atrophy - dysarthria; SPAX4; Spastic ataxia 4, autosomal recessive; Autosomal recessive spastic ataxia - optic atrophy - dysarthria; Autosomal recessive spastic ataxia type 4; Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome See More
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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 254343

Definition
A rare, genetic, autosomal recessive spastic ataxia disease characterized by onset in early childhood of spastic paraparesis, cerebellar ataxia, dysarthria and optic atrophy.

Visit the Orphanet disease page for more resources.
Last updated: 1/1/2019

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
Babinski sign 0003487
Dysarthria
Difficulty articulating speech
0001260
Hyperreflexia
Increased reflexes
0001347
Optic atrophy 0000648
Spastic paraparesis 0002313
30%-79% of people have these symptoms
Frequent falls 0002359
Lower limb hypertonia 0006895
Motor delay 0001270
Movement abnormality of the tongue 0000182
Myoclonus 0001336
Nystagmus
Involuntary, rapid, rhythmic eye movements
0000639
Progressive cerebellar ataxia 0002073
Progressive gait ataxia 0007240
Upper limb hypertonia 0200049
5%-29% of people have these symptoms
Emotional lability
Emotional instability
0000712
Hyporeflexia
Decreased reflex response
Decreased reflexes
[ more ] 		0001265
Percent of people who have these symptoms is not available through HPO
Autosomal recessive inheritance 0000007
Delayed ability to walk 0031936
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
Slow progression
Signs and symptoms worsen slowly with time
0003677
Spastic ataxia 0002497
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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

  • Orphanet lists international laboratories offering diagnostic testing for this condition.

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

  • 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.

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

  • Orphanet lists European clinical trials, research studies, and patient registries enrolling people with this condition. 

Patient Registry

  • Coordination of Rare Diseases at Sanford (CoRDS) hosts a specific registry for patients with ataxia in partnership with the National Ataxia Foundation. The goal of the CoRDS registry is to connect as many patients and researchers as possible to help advance treatments and cures for rare diseases. The CoRDS registry is free for patients to enroll and for researchers to access.

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.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Autosomal recessive spastic ataxia 4. Click on the link to view a sample search on this topic.

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