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Disease Profile

Posterior column ataxia with retinitis pigmentosa

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of onset

Childhood

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ICD-10

G11.1

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

PCARP; AXPC1

Categories

Congenital and Genetic Diseases; Nervous System Diseases

Summary

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).[1] 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.[2][3] 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.

Symptoms

The signs and symptoms of PCARP usually appear in early childhood, typically starting with retinitis pigmentosa, proprioceptive abnormalities, and loss of the sense of touch.[2][3] Other signs and symptoms may include:[1][2][3]

  • Intellectual disability
  • Damage to the nerves in the esophagus and difficulties swallowing (achalasia
  • Issues with the movement of the intestines (gastrointestinal dysmotility)
  • Loss of bladder control
  • Recurrent urinary tract infections
  • Curvature of the spine (scoliosis)
  • Abnormal bending of the joints of the fingers (camptodactyly)
  • Muscle wasting and weakness
  • Lean body habitus

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Impaired vibration sensation in the lower limbs
Decreased lower limb vibratory sense
Decreased vibratory sense in lower limbs
Decreased vibratory sense in the lower extremities
Decreased vibratory sense in the lower limbs
Diminished vibratory sensation in the legs

[ more ]

0002166
30%-79% of people have these symptoms
Axonal degeneration
0040078
Bone spicule pigmentation of the retina
0007737
Gait ataxia
Inability to coordinate movements when walking
0002066
Generalized hypotonia
Decreased muscle tone
Low muscle tone

[ more ]

0001290
Intellectual disability
Mental-retardation
Mental retardation, nonspecific
Mental retardation
Mental deficiency

[ more ]

0001249
Nyctalopia
Night blindness
Night-blindness
Poor night vision

[ more ]

0000662
Rod-cone dystrophy
0000510
Visual loss
Loss of vision
Vision loss

[ more ]

0000572
5%-29% of people have these symptoms
Abnormal sensory nerve conduction velocity
0040132
Abnormality of the spinal cord
0002143
Areflexia
Absent tendon reflexes
0001284
Camptodactyly
Permanent flexion of the finger or toe
0012385
Cataract
Clouding of the lens of the eye
Cloudy lens

[ more ]

0000518
Chronic pain
Long-lasting pain
0012532
Delayed gross motor development
Delayed motor skills
0002194
Flexion contracture of finger
0012785
Gastrointestinal dysmotility
0002579
Kyphosis
Hunched back
Round back

[ more ]

0002808
Muscle spasm
0003394
Osteomyelitis
Bone infection
0002754
Positive Romberg sign
0002403
Scoliosis
0002650
Seizure
0001250
Truncal titubation
0030147
1%-4% of people have these symptoms
Bowel incontinence
Loss of bowel control
0002607
Percent of people who have these symptoms is not available through HPO
Achalasia
0002571
Ataxia
0001251
Autosomal recessive inheritance
0000007
Blindness
0000618
Broad-based gait
Wide based walk
0002136
Childhood onset
Symptoms begin in childhood
0011463
Decreased sensory nerve conduction velocity
0003448
Delayed ability to walk
0031936
Distal muscle weakness
Weakness of outermost muscles
0002460
Joint contracture of the hand
0009473
Optic atrophy
0000648
Recurrent urinary tract infections
Frequent urinary tract infections
Repeated bladder infections
Repeated urinary tract infections
Urinary tract infections
Urinary tract infections, recurrent

[ more ]

0000010
Ring scotoma
0030529
Scotoma
0000575
Sensory ataxia
0010871
Skeletal muscle atrophy
Muscle degeneration
Muscle wasting

[ more ]

0003202
Slow progression
Signs and symptoms worsen slowly with time
0003677
Undetectable electroretinogram
0000550
Urinary incontinence
Loss of bladder control
0000020

Cause

PCARP is a genetic condition. Most cases of PCARP are caused by mutations in the FLVCR1 gene. Scientists believe that mutations in this gene result in deterioration of the light detecting cells in the retina of the eye and certain nerve cells in the spinal cord. There may be other genes involved in the development of this condition, as some individuals with PCARP do not have mutations in the FLVCR1 gene.[4]

Diagnosis

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

    Organizations

    Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

    Organizations Supporting this Disease

      Organizations Providing General Support

        Learn more

        These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

        In-Depth Information

        • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
        • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
        • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
        • PubMed is a searchable database of medical literature and lists journal articles that discuss Posterior column ataxia with retinitis pigmentosa. Click on the link to view a sample search on this topic.

          References

          1. Shaibani A, Wong LJ, Wei Zhang V, Lewis RA, Shinawi M. Autosomal recessive posterior column ataxia with retinitis pigmentosa caused by novel mutations in the FLVCR1 gene. Int J Neurosci. January 2015; 125(1):43-49. https://www.ncbi.nlm.nih.gov/pubmed/24628582.
          2. Posterior column ataxia-retinitis pigmentosa syndrome. Orphanet. May 2011; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88628.
          3. Kniffin CL. Posterior column ataxia-retinitis pigmentosa; AXPC1. Online Mendelian Inheritance in Man (OMIM). 6/3/2016; https://www.omim.org/entry/609033.
          4. Rajadhyaksha AM, Elemento O, Puffenberger EG, et al. Mutations in FLVCR1 Cause Posterior Column Ataxia and Retinitis Pigmentosa. Journal of Human Genetics. November 12, 2010; v.87(5):643-654. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2978959/.

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