Overview
Lethal ataxia with deafness and optic atrophy (also known as Arts syndrome or ARTS syndrome) is an extremely rare X-linked disorder characterized by a combination of progressive cerebellar ataxia, sensorineural hearing loss (deafness), and optic atrophy. The condition is caused by loss-of-function mutations in the PRPS1 gene, which encodes phosphoribosylpyrophosphate synthetase 1, an enzyme critical for purine and pyrimidine nucleotide synthesis. The ICD-10 classification under E79.8 reflects its categorization among disorders of purine and pyrimidine metabolism. The disease primarily affects the nervous system, including the cerebellum (causing ataxia and impaired coordination), the auditory system (causing sensorineural deafness), and the optic nerves (causing progressive visual loss through optic atrophy). Additional features may include hypotonia, intellectual disability, delayed motor development, and recurrent infections due to immune dysfunction. The condition predominantly affects males, with onset typically in early childhood or infancy. Affected males often experience a severe and progressive clinical course, and the condition has historically been described as lethal, with early death frequently occurring due to infections or neurological decline. There is currently no cure for this condition. Management is supportive and multidisciplinary, focusing on addressing hearing loss (hearing aids or cochlear implants), visual impairment, physical therapy for motor difficulties, and prompt treatment of infections. Some research has explored S-adenosylmethionine (SAM) supplementation as a potential therapeutic approach to bypass the metabolic defect, but evidence remains limited. Genetic counseling is recommended for affected families.
Clinical phenotype terms— hover any for plain English:
X-linked recessive
Carried on the X chromosome; typically affects males more than females
Infantile
Begins in infancy, roughly 1 month to 2 years old
FDA & Trial Timeline
10 eventsNational Institute of Allergy and Infectious Diseases (NIAID) — PHASE1
Massachusetts General Hospital — NA
Lahore University of Biological and Applied Sciences — NA
National Institute of Allergy and Infectious Diseases (NIAID) — PHASE1
Universitair Ziekenhuis Brussel — NA
Emory University — NA
Yale University — NA
National Institute of Allergy and Infectious Diseases (NIAID) — PHASE1
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
No FDA-approved treatments are currently listed for Lethal ataxia with deafness and optic atrophy.
3 clinical trialsare actively recruiting — trials can provide access to cutting-edge therapies.
View clinical trials →Rare Disease Specialist
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Lethal ataxia with deafness and optic atrophy.
Community
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Start the conversation →Latest news about Lethal ataxia with deafness and optic atrophy
Disease timeline:
New recruiting trial: Peer Behavioral Activation Utilization to Improve Substance Use and HIV Outcomes in People Receiving Long Acting Injectable-PrEP/ART (PUSH)
A new clinical trial is recruiting patients for Lethal ataxia with deafness and optic atrophy
New recruiting trial: Observational Study on Patients With HIV/AIDS(OSPWH)
A new clinical trial is recruiting patients for Lethal ataxia with deafness and optic atrophy
New recruiting trial: Mandala and Music for PMS Relief
A new clinical trial is recruiting patients for Lethal ataxia with deafness and optic atrophy
New recruiting trial: Reducing Stigma in People Who Inject Drugs (PWID) With HIV Using a Rapid Start Antiretroviral Therapy Intervention (ART)
A new clinical trial is recruiting patients for Lethal ataxia with deafness and optic atrophy
New recruiting trial: Reducing Hazardous Alcohol Use and Optimizing Treatment as Prevention Among Men Living With HIV in Risk Environments
A new clinical trial is recruiting patients for Lethal ataxia with deafness and optic atrophy
New recruiting trial: The T Cell Activator of Cell Killing ("TACK") IT ON" STUDY
A new clinical trial is recruiting patients for Lethal ataxia with deafness and optic atrophy
New recruiting trial: Accelerated ART Initiation for PWHIV Who Are Out of Care
A new clinical trial is recruiting patients for Lethal ataxia with deafness and optic atrophy
New recruiting trial: HeadStART: Evaluating the Effectiveness of Community ART Delivery for People Newly Diagnosed With HIV
A new clinical trial is recruiting patients for Lethal ataxia with deafness and optic atrophy
New recruiting trial: Lenacapavir Intensification to Disrupt HIV Reservoirs in Virologically Suppressed People With HIV Receiving Antiretroviral Therapy
A new clinical trial is recruiting patients for Lethal ataxia with deafness and optic atrophy
New recruiting trial: Creative Arts Program to Reduce Burnout in Healthcare Professionals
A new clinical trial is recruiting patients for Lethal ataxia with deafness and optic atrophy
Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Common questions about Lethal ataxia with deafness and optic atrophy
What is Lethal ataxia with deafness and optic atrophy?
Lethal ataxia with deafness and optic atrophy (also known as Arts syndrome or ARTS syndrome) is an extremely rare X-linked disorder characterized by a combination of progressive cerebellar ataxia, sensorineural hearing loss (deafness), and optic atrophy. The condition is caused by loss-of-function mutations in the PRPS1 gene, which encodes phosphoribosylpyrophosphate synthetase 1, an enzyme critical for purine and pyrimidine nucleotide synthesis. The ICD-10 classification under E79.8 reflects its categorization among disorders of purine and pyrimidine metabolism. The disease primarily affects
How is Lethal ataxia with deafness and optic atrophy inherited?
Lethal ataxia with deafness and optic atrophy follows a x-linked recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Lethal ataxia with deafness and optic atrophy typically begin?
Typical onset of Lethal ataxia with deafness and optic atrophy is infantile. Age of onset can vary across affected individuals.
Are there clinical trials for Lethal ataxia with deafness and optic atrophy?
Yes — 3 recruiting clinical trials are currently listed for Lethal ataxia with deafness and optic atrophy on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.
Which specialists treat Lethal ataxia with deafness and optic atrophy?
17 specialists and care centers treating Lethal ataxia with deafness and optic atrophy are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.