Posterior column ataxia with retinitis pigmentosa

Print

Disease Overview

Posterior column ataxia with retinitis pigmentosa (PCARP) is a genetic condition that affects vision and the nervous system. It is characterized by a loss of cells in the light sensitive tissue in the back of the eye (retinitis pigmentosa), abnormalities in the body’s unconscious perception of movement and spatial orientation (proprioception), and muscle weakness and breakdown (atrophy).[13467] Other signs and symptoms may include curvature of the spine (scoliosis), an abnormal bending of the joints in the fingers (camptodactyly), and issues with the gastrointestinal system. PCARP is caused by mutations in the FLVCR1 gene and is inherited in an autosomal recessive manner.[13468][13469] While there is no one treatment for this condition, there may be ways to manage the symptoms. A team of doctors is often needed to figure out the treatment options based on each person’s symptoms.


Synonyms

  • PCARP
  • AXPC1

For more information, visit GARD.

National Organization for Rare Disorders