Living with Ataxia-telangiectasia-like disorder 2
A rare genetic condition with nerve decline, short stature, hearing loss, and sensitivity to light and sun.
Understanding Ataxia-telangiectasia-like disorder 2
Features include progressive loss of nerve cells, slow growth after birth, hearing loss that is present before speech develops, early signs of aging, and small clusters of enlarged blood vessels (telangiectasia) in the eyes and skin. People are sensitive to light and sunlight and may be prone to sun-related cancers. Over time, walking, strength, speech, swallowing, and thinking skills can decline.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Gradual loss of nerve cells (neurodegeneration)
- Unsteady walking (gait ataxia)
- Hearing loss
- Short stature
- Sensitivity of the eyes and skin to light
- Small clusters of enlarged blood vessels in the eyes and skin
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, cancer specialists, ear, nose, and throat specialists and genetic specialists.
- 3Consider genetic testing
Changes in PCNA are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Cancer specialists (oncologists); Ear, nose, and throat specialists (otolaryngologists); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- 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 Children's Skin Disease 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 PCNA gene cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: ataxia-telangiectasia-like disorder type 2; atld2; pcna-related progressive neurodegenerative photosensitivity syndrome; proliferating cell nuclear antigen-related progressive neurodegenerative photosensitivity syndrome
Patient organizations
- Children's Skin Disease FoundationSkin diseases · 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 Ataxia-telangiectasia-like disorder 2.
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