Overview
PCNA-related progressive neurodegenerative photosensitivity syndrome, also known as ataxia-telangiectasia-like disorder 2 (ATLD2) or PCNA-associated DNA repair disorder, is an extremely rare genetic condition caused by mutations in the PCNA gene. PCNA stands for Proliferating Cell Nuclear Antigen, a protein that plays a critical role in DNA repair and replication. When this protein does not work properly, cells cannot fix DNA damage effectively, especially damage caused by ultraviolet (UV) light from the sun. The disease affects multiple body systems. Patients typically develop progressive neurological problems, including difficulty with coordination and balance (ataxia), along with marked sensitivity to sunlight (photosensitivity). Over time, the nervous system gradually deteriorates, leading to worsening movement difficulties, hearing loss, and sometimes cognitive decline. The skin is also significantly affected, with sun-exposed areas being particularly vulnerable to damage. This condition was first described in the Amish population and remains extremely rare worldwide. There is currently no cure for this disease. Treatment focuses on managing symptoms, protecting the skin from sun exposure, and providing supportive therapies such as physical therapy and occupational therapy to help maintain function for as long as possible. A multidisciplinary team of specialists is needed to address the wide range of symptoms that can develop over time.
Key symptoms:
Progressive difficulty with balance and coordination (ataxia)Severe sensitivity to sunlightSkin rashes or burns from minimal sun exposureHearing lossShort stature or growth problemsTelangiectasias (small visible blood vessels on the skin or eyes)Progressive muscle weaknessDifficulty walkingSpeech difficultiesVision problemsLearning difficulties or cognitive declineFrequent infectionsTremors or involuntary movementsFatigue
Clinical phenotype terms (16)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Childhood
Begins in childhood, roughly ages 1 to 12
Treatments
No FDA-approved treatments are currently listed for PCNA-related progressive neurodegenerative photosensitivity syndrome.
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Specialists
View all specialists →No specialists are currently listed for PCNA-related progressive neurodegenerative photosensitivity syndrome.
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 PCNA-related progressive neurodegenerative photosensitivity syndrome.
Community
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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.
Questions for your doctor
Bring these to your next appointment
- Q1.What is the expected rate of progression for my child's specific case?,What sun protection measures are most important, and are there specific products you recommend?,How often should neurological assessments, hearing tests, and eye exams be scheduled?,Are there any clinical trials or research studies we could participate in?,What therapies (physical, occupational, speech) should we start now to maintain function?,Should other family members be tested to see if they are carriers?,What resources or support groups are available for families affected by this condition?
Common questions about PCNA-related progressive neurodegenerative photosensitivity syndrome
What is PCNA-related progressive neurodegenerative photosensitivity syndrome?
PCNA-related progressive neurodegenerative photosensitivity syndrome, also known as ataxia-telangiectasia-like disorder 2 (ATLD2) or PCNA-associated DNA repair disorder, is an extremely rare genetic condition caused by mutations in the PCNA gene. PCNA stands for Proliferating Cell Nuclear Antigen, a protein that plays a critical role in DNA repair and replication. When this protein does not work properly, cells cannot fix DNA damage effectively, especially damage caused by ultraviolet (UV) light from the sun. The disease affects multiple body systems. Patients typically develop progressive ne
How is PCNA-related progressive neurodegenerative photosensitivity syndrome inherited?
PCNA-related progressive neurodegenerative photosensitivity syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does PCNA-related progressive neurodegenerative photosensitivity syndrome typically begin?
Typical onset of PCNA-related progressive neurodegenerative photosensitivity syndrome is childhood. Age of onset can vary across affected individuals.