National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Schindler disease type 1


Other Names:
Neuroaxonal dystrophy, Schindler type; Alpha-N-acetylgalactosaminidase deficiency, type 1; NAGA deficiency, type 1; Neuroaxonal dystrophy, Schindler type; Alpha-N-acetylgalactosaminidase deficiency, type 1; NAGA deficiency, type 1; Schindler disease type I See More
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Schindler disease is an inherited condition that primarily causes neurological problems. There are three types of Schindler disease. Schindler disease type 1, also called the infantile type, is the most severe form. Babies with this condition appear healthy a birth, but by the age of 8 to 15 months they stop developing new skills and begin losing skills they had already acquired. As the condition progresses, affected individuals develop blindness and seizures, and eventually lose awareness of their surroundings and become unresponsive. People with this form of the condition usually don't survive past early childhood. Schindler disease type 1 is caused by mutations in the NAGA gene. The condition follows an autosomal recessive pattern of inheritance.[1] 
Last updated: 5/13/2015

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.

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Medical Terms Other Names
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HPO ID
80%-99% of people have these symptoms
Abnormal pyramidal sign 0007256
Abnormality of brainstem morphology
Abnormal shape of brainstem
0002363
Cerebral visual impairment 0100704
Developmental regression
Loss of developmental milestones
Mental deterioration in childhood
[ more ] 		0002376
Generalized amyotrophy
Diffuse skeletal muscle wasting
Generalized muscle degeneration
Muscle atrophy, generalized
[ more ] 		0003700
Global developmental delay 0001263
Hearing impairment
Deafness
Hearing defect
[ more ] 		0000365
Intellectual disability, severe
Early and severe mental retardation
Mental retardation, severe
Severe mental retardation
[ more ] 		0010864
Muscle weakness
Muscular weakness
0001324
Muscular hypotonia
Low or weak muscle tone
0001252
Seizure 0001250
Spasticity
Involuntary muscle stiffness, contraction, or spasm
0001257
30%-79% of people have these symptoms
Abnormality of extrapyramidal motor function 0002071
Autism 0000717
Hemiplegia/hemiparesis
Paralysis or weakness of one side of body
0004374
Hyperkeratosis 0000962
Myoclonus 0001336
Nystagmus
Involuntary, rapid, rhythmic eye movements
0000639
Optic atrophy 0000648
Strabismus
Cross-eyed
Squint
Squint eyes
[ more ] 		0000486
Telangiectasia of the skin 0100585
Vertigo
Dizzy spell
0002321
5%-29% of people have these symptoms
Aplasia/Hypoplasia of the cerebellum
Absent/small cerebellum
Absent/underdeveloped cerebellum
[ more ] 		0007360
Hepatomegaly
Enlarged liver
0002240
Hypertrophic cardiomyopathy
Enlarged and thickened heart muscle
0001639
Lymphedema
Swelling caused by excess lymph fluid under skin
0001004
Paresthesia
Pins and needles feeling
Tingling
[ more ] 		0003401
Percent of people who have these symptoms is not available through HPO
Autosomal recessive inheritance 0000007
Generalized hypotonia
Decreased muscle tone
Low muscle tone
[ more ] 		0001290
Hyperreflexia
Increased reflexes
0001347
Increased urinary O-linked sialopeptides 0003461
Infantile onset
Onset in first year of life
Onset in infancy
[ more ] 		0003593
Osteopenia 0000938
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Last updated: 7/1/2020
Schindler disease type 1 is caused by mutations in the NAGA gene. This gene provides instructions for making the enzyme alpha-N-acetylgalactosaminidase.This enzyme works in the lysosomes  (compartments within cells that digest and recycle materials) to help break down complexes called glycoproteins and glycolipids (sugar molecules attached to certain proteins and fats). More specifically, alpha-N-acetylgalactosaminidase helps remove a molecule called alpha-N-acetylgalactosamine from sugars in these complexes.[1]

Mutations in the NAGA gene interfere with the ability of the alpha-N-acetylgalactosaminidase enzyme to perform its role in breaking down glycoproteins and glycoliipids. These substances accumulate in the lysosomes and cause cells to malfunction and eventually die. Cell damage in the nervous system and other tissues and organs of the body leads to the signs and symptoms of Schindler disease type 1.[1]   
Last updated: 5/13/2015
Schindler disease type 1 is inherited in an autosomal recessive pattern. This means that both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically so not show signs and symptoms of the condition.[1] 
Last updated: 5/13/2015

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.

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

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

  • ClinicalTrials.gov lists trials that are related to Schindler disease type 1. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

    Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.

Patient Registry

  • The Lysosomal Disease Network is a team of doctors, nurses, research coordinators, and research labs throughout the U.S., working together to improve the lives of people with this condition through research. The Lysosomal Disease Network has a registry for patients who wish to be contacted about clinical research opportunities.

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

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

  • 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 Schindler disease type 1. Click on the link to view a sample search on this topic.

News

Other Conferences

  • 2012 International Conference for Glycoprotein Storage Diseases, July 27, 2012 - July 30, 2012
    Location: Crowne Plaza Hotel, Charleston, SC
    Description: The International Society for Mannosidosis & Related Storage Diseases (ISMRD) is sponsoring the 2012 International Conference for Glycoprotein Storage Diseases. The Scientific/Family meetings will be held concurrently on July 28th and 29th. Alongside this meeting, they are hosting the extension of the Natural History Study, with clinic days on July 27th and 30th.

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. Submit a new question

  • I would like to know the exact location of the gene that causes this disease. In addition, can you tell me more about the mutation involved? See answer


  1. Schindler disease. Genetics Home Reference (GHR). February 2010; http://ghr.nlm.nih.gov/condition/schindler-disease. Accessed 5/13/2015.