Rare Endocrinology News

Disease Profile

Neuropathy ataxia retinitis pigmentosa syndrome

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.
1-9 / 100 000

3,310 - 29,790

US Estimated

1-9 / 100 000

5,135 - 46,215

Europe Estimated

Age of onset

Childhood

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ICD-10

E88.8

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)

NARP syndrome; NARP

Categories

Congenital and Genetic Diseases; Eye diseases; Metabolic disorders;

Summary

Neuropathy ataxia retinitis pigmentosa (NARP) syndrome is characterized by a variety of signs and symptoms that mainly affect the nervous system. Beginning in childhood or early adulthood, most people with NARP experience numbness, tingling, or pain in the arms and legs (sensory neuropathy); muscle weakness; and problems with balance and coordination (ataxia). Affected individuals may also have vision loss caused by a condition called retinitis pigmentosa. Other features of NARP include learning disabilities, developmental delay, seizures, dementia, hearing loss, and cardiac conduction defects. Mutations in the MT-ATP6 gene cause NARP syndrome. This gene is located within mitochondrial DNA (mtDNA).[1] Most individuals with NARP have a specific MT-ATP6 mutation in 70 percent to 90 percent of their mitochondria.[2] NARP syndrome is inherited from the mother (maternal inheritance) because only females pass mitochondrial DNA to their children.[1]

Symptoms

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
30%-79% of people have these symptoms
Abnormal basal ganglia MRI signal intensity
0012751
Abnormal visual field test
0030588
Babinski sign
0003487
Blindness
0000618
Cerebral cortical atrophy
Decrease in size of the outer layer of the brain due to loss of brain cells
0002120
Constriction of peripheral visual field
Limited peripheral vision
0001133
Corticospinal tract atrophy
0007117
Dementia
Dementia, progressive
Progressive dementia

[ more ]

0000726
Global developmental delay
0001263
Headache
Headaches
0002315
Hearing impairment
Deafness
Hearing defect

[ more ]

0000365
Intellectual disability, severe
Early and severe mental retardation
Mental retardation, severe
Severe mental retardation

[ more ]

0010864
Irritability
Irritable
0000737
Muscle spasm
0003394
Myoclonic spasms
0003739
Nystagmus
Involuntary, rapid, rhythmic eye movements
0000639
Optic disc pallor
0000543
Progressive gait ataxia
0007240
Proximal muscle weakness
Weakness in muscles of upper arms and upper legs
0003701
Retinal arteriolar tortuosity
0001136
Retinal pigment epithelial mottling
0007814
Rod-cone dystrophy
0000510
Seizure
0001250
Sensory neuropathy
Damage to nerves that sense feeling
0000763
Short stature
Decreased body height
Small stature

[ more ]

0004322
Ventriculomegaly
0002119
Percent of people who have these symptoms is not available through HPO
Ataxia
0001251
Mitochondrial inheritance
0001427
Mitochondrial myopathy
0003737
Myopathy
Muscle tissue disease
0003198
Retinopathy
Noninflammatory retina disease
0000488

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.
  • Orphanet lists international laboratories offering diagnostic testing for this condition.

    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 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.

      Where to Start

      • MedlinePlus Genetics contains information on Neuropathy ataxia retinitis pigmentosa syndrome. This website is maintained by the National Library of Medicine.
      • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

        In-Depth Information

        • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
        • 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 Neuropathy ataxia retinitis pigmentosa syndrome. Click on the link to view a sample search on this topic.

          References

          1. Neuropathy, ataxia, and retinitis pigmentosa. Genetics Home Reference. November 2006; https://ghr.nlm.nih.gov/condition/neuropathy-ataxia-and-retinitis-pigmentosa.
          2. MT-ATP6. Genetics Home Reference. October 2011; https://ghr.nlm.nih.gov/gene/MT-ATP6.