Living with Posterior column ataxia-retinitis pigmentosa syndrome
A genetic condition that affects vision and the nervous system, with night blindness, poor balance and muscle weakness.
Understanding Posterior column ataxia-retinitis pigmentosa syndrome
It causes loss of cells in the light-sensitive tissue at the back of the eye (retinitis pigmentosa) and trouble sensing body position and movement (proprioception). It also causes muscle weakness and wasting. Other signs can include curved spine, bent finger joints and digestive problems. It often starts in childhood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Night blindness and vision loss
- Poor balance and unsteady walking (ataxia)
- Trouble sensing body position (proprioception)
- Reduced vibration sense in the legs
- Low muscle tone
- Intellectual disability
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 and genetic specialists.
- 3Consider genetic testing
Changes in FLVCR1 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); 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
Changes in the FLVCR1 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, posterior column, with retinitis pigmentosa; autosomal recessive posterior column ataxia and retinitis pigmentosa; pcarp; posterior column ataxia with retinitis pigmentosa syndrome; retinopathy-sensory neuropathy syndrome; retsns
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 Posterior column ataxia-retinitis pigmentosa syndrome.
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