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  3. Infantile neuroaxonal dystrophy
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Infantile neuroaxonal dystrophy


Title


Other Names:
Seitelberger disease; INAD; Infantile neuroaxonal dystrophy/atypical neuroaxonal dystrophy; Seitelberger disease; INAD; Infantile neuroaxonal dystrophy/atypical neuroaxonal dystrophy; Neurodegeneration with brain iron accumulation 2B ; NEUROAXONAL DYSTROPHY, ATYPICAL; KARAK SYNDROME, INCLUDED; NEURODEGENERATION WITH BRAIN IRON ACCUMULATION, PLA2G6-RELATED; NBIA2B ; INAD1; Phospholipase A2-associated neurodegeneration; PLAN; Neuroaxonal dystrophy, infantile See More
Categories:
Congenital and Genetic Diseases; Metabolic disorders; Nervous System Diseases
This disease is grouped under:
Neurodegeneration with brain iron accumulation

Summary Summary


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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]
Last updated: 2/7/2018

Symptoms Symptoms


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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.

Showing of 61 |
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
Seizures
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
Cross-eyed
Squint
Squint eyes
[ more ]
0000486
Talipes calcaneovalgus 0001884
Unsteady gait
Unsteady walk
0002317
Visual loss
Loss of vision
Vision loss
[ more ]
0000572
Showing of 61 |
Do you have more information about symptoms of this disease? We want to hear from you.
Last updated: 12/1/2019
Do you have updated information on this disease? We want to hear from you.

Diagnosis Diagnosis


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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.

Find a Specialist Find a Specialist


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If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

  • To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Related Diseases Related Diseases


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Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

Conditions with similar signs and symptoms from Orphanet
Differential diagnoses include infantile neuronal ceroid-lipofuscinosis, ataxia-telangectasia, and hereditary ataxia (see these terms), although cerebellar atrophy usually presents later for these disorders, other forms of NBIA, including pantothenate kinase-associated neurodegeneration (PKAN; see this term) which is characterized by an ``eye of the tiger'' sign not observed in INAD, infantile GM2 gangliosidosis, Niemann-Pick disease type C, autism and Menkes disease (see these terms).
Visit the Orphanet disease page for more information.

Research Research


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Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • Orphanet lists European clinical trials, research studies, and patient registries enrolling people with this condition. 

Organizations Organizations


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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

  • NBIA Disorders Association
    2082 Monaco Ct.
    El Cajon, CA 92019-4235
    Telephone: +1-619-588-2315
    Fax: +1-619-588-4093
    E-mail: info@NBIAdisorders.org
    Website: https://www.nbiadisorders.org/

Social Networking Websites

  • Visit the INADcure Foundation group on Facebook.
Do you know of an organization? We want to hear from you.

Living With Living With


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Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

Financial Resources

  • The Social Security Administration has included this condition in their Compassionate Allowances Initiative. This initiative speeds up the processing of disability claims for applicants with certain medical conditions that cause severe disability. More information about Compassionate Allowances and applying for Social Security disability is available online.

Learn More Learn More


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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

  • Genetics Home Reference (GHR) contains information on Infantile neuroaxonal dystrophy. This website is maintained by the National Library of Medicine.
  • The National Institute of Neurological Disorders and Stroke (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.
  • 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.
  • The University College London Institute of Child Health has an information page on neuroaxonal dystrophy, infantile. Click on the link to view the information page.

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.

News & Events News & Events


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News

  • NBIA Disorders Association Announces Research Grants for Neurodegeneration with Brain Iron Accumulation (NBIA)
    February 19, 2015

Other Conferences

  • Fifth International NBIA Disorders Association Family Conference
    May 29 - 31, 2009  
    Indianapolis, Indiana
    http://www.nbiadisorders.org/

GARD Answers GARD Answers


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Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

Have a question? Contact a GARD Information Specialist.

References 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.
Do you know of a review article? We want to hear from you.
You can help advance
rare disease research!
You can help advance rare disease research!
toolbox
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