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Disease Profile

Infantile neuroaxonal dystrophy

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.

Unknown

Age of onset

Infancy

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ICD-10

G23.0

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)

Seitelberger disease; INAD; Infantile neuroaxonal dystrophy/atypical neuroaxonal dystrophy;

Categories

Congenital and Genetic Diseases; Metabolic disorders; Nervous System Diseases

Summary

Infantile neuroaxonal dystrophy is a type of lipid storage disorder that mostly affects the nervous system. It has two forms, a classic form and an atypical form. The classic form is usually diagnosed in infancy or early childhood and leads to a progressive loss of vision and developmental milestones. The atypical form usually begins in early childhood, but can start as late as the teens. Infantile neuroaxonal dystrophy is caused by changes (pathogenic variants) in the PLA2G6 gene and is inherited in an autosomal recessive pattern.[1][2]

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
80%-99% of people have these symptoms
Developmental regression
Loss of developmental milestones
Mental deterioration in childhood

[ more ]

0002376
Muscular hypotonia
Low or weak muscle tone
0001252
30%-79% of people have these symptoms
Cachexia
Wasting syndrome
0004326
Infantile onset
Onset in first year of life
Onset in infancy

[ more ]

0003593
Visual impairment
Impaired vision
Loss of eyesight
Poor vision

[ more ]

0000505
1%-4% of people have these symptoms
Areflexia
Absent tendon reflexes
0001284
Decreased nerve conduction velocity
0000762
Percent of people who have these symptoms is not available through HPO
Abnormal pyramidal sign
0007256
Abnormality of metabolism/homeostasis
Laboratory abnormality
Metabolism abnormality

[ more ]

0001939
Abnormality of visual evoked potentials
0000649
Ataxia
0001251
Autosomal recessive inheritance
0000007
Babinski sign
0003487
Bradykinesia
Slow movements
Slowness of movements

[ more ]

0002067
Cerebellar atrophy
Degeneration of cerebellum
0001272
Cerebral atrophy
Degeneration of cerebrum
0002059
Childhood onset
Symptoms begin in childhood
0011463
Chorea
0002072
Delayed speech and language development
Deficiency of speech development
Delayed language development
Delayed speech
Delayed speech acquisition
Delayed speech development
Impaired speech and language development
Impaired speech development
Language delay
Language delayed
Language development deficit
Late-onset speech development
Poor language development
Speech and language delay
Speech and language difficulties
Speech delay

[ more ]

0000750
Dysarthria
Difficulty articulating speech
0001260
Dysdiadochokinesis
Difficulty performing quick and alternating movements
0002075
Dysmetria
Lack of coordination of movement
0001310
Dysphagia
Poor swallowing
Swallowing difficulties
Swallowing difficulty

[ more ]

0002015
Dystonia
0001332
EMG: chronic denervation signs
0003444
Emotional lability
Emotional instability
0000712
Feeding difficulties
Feeding problems
Poor feeding

[ more ]

0011968
Frontal bossing
0002007
Gait ataxia
Inability to coordinate movements when walking
0002066
Generalized hypotonia
Decreased muscle tone
Low muscle tone

[ more ]

0001290
Generalized muscle weakness
0003324
Gliosis
0002171
Global developmental delay
0001263
Hearing impairment
Deafness
Hearing defect

[ more ]

0000365
Hyperactivity
More active than typical
0000752
Hyperreflexia
Increased reflexes
0001347
Hypertonia
0001276
Impaired smooth pursuit
0007772
Impulsivity
Impulsive
0100710
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation

[ more ]

0001249
Intention tremor
0002080
Lewy bodies
0100315
Mental deterioration
Cognitive decline
Cognitive decline, progressive
Intellectual deterioration
Progressive cognitive decline

[ more ]

0001268
Micrognathia
Little lower jaw
Small jaw
Small lower jaw

[ more ]

0000347
Morphological abnormality of the pyramidal tract
0002062
Neurodegeneration
Ongoing loss of nerve cells
0002180
Neurofibrillary tangles
0002185
Neuronal loss in central nervous system
Loss of brain cells
0002529
Nystagmus
Involuntary, rapid, rhythmic eye movements
0000639
Optic atrophy
0000648
Progressive
Worsens with time
0003676
Prominent forehead
Pronounced forehead
Protruding forehead

[ more ]

0011220
Seizure
0001250
Short attention span
Poor attention span
Problem paying attention

[ more ]

0000736
Short nose
Decreased length of nose
Shortened nose

[ more ]

0003196
Spastic tetraplegia
0002510
Spasticity
Involuntary muscle stiffness, contraction, or spasm
0001257
Strabismus

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 Supporting this Disease

      Social Networking Websites

        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

          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.
          • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
          • MeSH® (Medical Subject Headings) is a terminology tool used by the National Library of Medicine. Click on the link to view information on this topic.
          • 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. 
            Neurodegeneration with brain iron accumulation 2A
            Neurodegeneration with brain iron accumulation 2B
          • 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 Infantile neuroaxonal dystrophy. Click on the link to view a sample search on this topic.

            References

            1. Gregory A, Kurian MA, Maher ER, Hogarth P, Hayflick SJ. PLA2G6-Associated Neurodegeneration. GeneReviews. March 23, 2017; https://www.ncbi.nlm.nih.gov/books/NBK1675/.
            2. Infantile neuroaxonal dystrophy. Genetics Home Reference. September 2012; https://ghr.nlm.nih.gov/condition/infantile-neuroaxonal-dystrophy.

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