Living with Arts syndrome
An X-linked genetic condition causing hearing loss, low muscle tone, vision loss, and developmental delay, mostly in boys.
Understanding Arts syndrome
Boys have profound hearing loss from birth, low muscle tone, poor coordination, developmental delay, and intellectual disability. In early childhood they develop vision loss from optic nerve damage, and numbness and weakness in the limbs (peripheral neuropathy). They often have repeated infections, especially in the airways. Females are typically much milder, and may only have hearing loss that starts in adulthood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Profound hearing loss from birth
- Low muscle tone
- Poor coordination (ataxia)
- Vision loss from optic nerve damage
- Developmental delay and intellectual disability
- Nerve damage in the limbs (peripheral neuropathy)
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists, ear, nose, and throat specialists and genetic specialists.
- 3Consider genetic testing
Changes in PRPS1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
National Ataxia Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Ear, nose, and throat specialists (otolaryngologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: National Ataxia Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with National Ataxia Foundation
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD says changes in the PRPS1 gene cause this condition. It is X-linked, meaning the gene is on the X chromosome.
Also known as: arts; arts syndrome and phosphoribosylpyrophosphate synthetase superactivity; arts syndrome, x-linked recessive; fatal x-linked ataxia with deafness and loss of vision; lethal ataxia with deafness and optic atrophy; lethal ataxia with hearing loss and optic atrophy
Patient organizations
- National Ataxia FoundationAtaxia · United States
Broader rare-disease groups
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Arts syndrome.
Explore research for Arts syndrome
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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