autosomal recessive spastic ataxia - Symptoms, Causes & Research | Kisho | Kisho

autosomal recessive spastic ataxia

Rare Disease

MONDO:0017847

Also known as:

AR-SPAXspastic ataxia, autosomal recessive

Autosomal recessive form of spastic ataxia.

Genes

Clinical Trials

2 active

Newborn Screening

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Patient Groups

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Patient-Friendly Information

Comprehensive, easy-to-understand information about this condition

How we create this content →

Last reviewed: Feb 2026

Evidence base: Early

Find Clinical TrialsTrials

Clinical Trials

Research studies investigating treatments and therapies for this condition.

Active Trials

Total Trials

Filter trials on ClinicalTrials.gov:

View Recruiting Trials View All Trials

Data from ClinicalTrials.gov Jan 7, 2026

Clinical Trials

Research studies investigating treatments and therapies for this condition.

Active Trials

Total Trials

Filter trials on ClinicalTrials.gov:

View Recruiting Trials View All Trials

Data from ClinicalTrials.gov Jan 7, 2026

Overview

Limited structured data is available for this condition. Information continues to be gathered as research progresses.(5 data sources · Data coverage: Limited)

Overview

Autosomal recessive spastic ataxia is an extremely rare condition. Because few cases have been documented, detailed clinical information is limited.

Symptoms & Signs

This condition is classified as an autosomal recessive disorder. Currently, there are no orphan drugs under investigation for this disease, and no specific symptoms or phenotypes have been documented.

Prognosis & Outlook

Patients and caregivers are encouraged to seek genetic counseling to understand the implications of this inherited condition. Connecting with rare disease registries such as NORD or Orphanet may provide additional resources and support. Finding specialists experienced in rare neurological disorders could also be beneficial.

Quick Resources

Helpful links for rare disease information and support

GARD (Genetic and Rare Diseases Information Center)NORD (National Organization for Rare Disorders)Find a Genetic Counselor

General Questions to Consider

Questions that may be helpful when speaking with your healthcare team

•Are there specialists or centers of excellence with experience in this condition?
•Is there a patient registry I could participate in?
•Should my family members consider genetic testing?
•What clinical trials might be available for this condition?
•Are there patient advocacy groups I should connect with?

Clinical

Associated Genes

5 genes

AFG3L2 SACS MTPAP NKX6-2 MARS2

Gene data from HGNC • Click to view on NCBI Gene

Treatment

Clinical Trials

Research studies investigating treatments and therapies for this condition.

Active Trials

Total Trials

Filter trials on ClinicalTrials.gov:

View Recruiting Trials View All Trials

Data from ClinicalTrials.gov Jan 7, 2026

Support

External Resources

Orphanet

European rare disease database

Orphanet:316240

GARD

Genetic and Rare Diseases Info Center

GARD:21403

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AI-Generated Content: This summary was generated using AI. Always consult with qualified healthcare providers for medical guidance.

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autosomal recessive spastic ataxia

Patient-Friendly Information

Clinical Trials

Clinical Trials

Overview

Overview

Symptoms & Signs

Prognosis & Outlook

Quick Resources

General Questions to Consider

Clinical

Associated Genes

Treatment

Clinical Trials

Support

External Resources

Orphanet

GARD

Related Diseases

Know a Patient Advocacy Group for this condition?

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