Diseases & Conditions


Schindler Disease

Synonyms of Schindler Disease
  • Alpha-N-Acetylgalactosaminidase Deficiency, Schindler Type
  • Alpha-NAGA Deficiency, Schindler Type
  • GALB Deficiency
  • Lysosomal Alpha-N-Acetylgalactosaminidase Deficiency, Schindler Type
  • Neuroaxonal Dystrophy, Schindler Type
  • Neuronal Axonal Dystrophy, Schindler Type

Disorder Subdivisions

  • Adult Onset Schindler Disease
  • Alpha-Galactosidase B Deficiency
  • Alpha-GalNAc Deficiency, Schindler Type
  • Angiokeratoma Corporis Diffusum-Glycopeptiduria
  • Classic Schindler Disease
  • Infantile Onset Schindler Disease
  • Kanzaki Disease
  • Lysosomal Glycoaminoacid Storage Disease-Angiokeratoma Corporis Diffusum
  • Schindler Disease, Infantile Onset
  • Schindler Disease, Type II (Adult Onset)
  • Schindler Disease, Type I (Infantile Onset)

General Discussion
Schindler Disease is a rare inherited metabolic disorder characterized by a deficiency of the lysosomal enzyme alpha-N-acetylgalactosaminidase (alpha-NAGA). The disorder belongs to a group of diseases known as lysosomal storage disorders. Lysosomes function as the primary digestive units within cells. Enzymes within lysosomes break down or digest particular nutrients, such as certain fats and carbohydrates. In individuals with Schindler Disease, deficiency of the alpha-NAGA enzyme leads to an abnormal accumulation of certain complex compounds (glycosphingolipids) in many tissues of the body.

There are two forms of Schindler Disease. The classical form of the disorder, known as Schindler Disease, Type I, has an infantile onset. Affected individuals appear to develop normally until approximately 1 year of age, when they begin to lose previously acquired skills that require the coordination of physical and mental activities (developmental regression). Additional neurological and neuromuscular symptoms may become apparent, including diminished muscle tone (hypotonia) and weakness; involuntary, rapid eye movements (nystagmus); visual impairment; and episodes of uncontrolled electrical activity in the brain (seizures). With continuing disease progression, affected children typically develop restricted movements of certain muscles due to progressively increased muscle rigidity, severe mental retardation, hearing and visual impairment, and a lack of response to stimuli in the environment.

Schindler Disease, Type II, which is also known as Kanzaki Disease, is the adult-onset form of the disorder. Associated symptoms may not become apparent until the second or third decade of life. In this milder form of the disease, symptoms may include the development of clusters of wart-like discolorations on the skin (angiokeratomas); permanent widening of groups of blood vessels (telangiectasia), causing redness of the skin in affected areas; relative coarsening of facial features; and mild intellectual impairment. The progressive neurological degeneration characteristically seen in the infantile form of the disease has not occurred in association with Schindler Disease, Type II.

Both forms of Schindler Disease are inherited as autosomal recessive traits. According to investigators, different changes (mutations) of the same gene are responsible for the infantile- and adult-onset forms of the disease. The gene has been mapped to the long arm (q) of chromosome 22 (22q11).

Organizations related to Schindler Disease
  • CLIMB (Children Living with Inherited Metabolic Diseases)
    Climb Building
    Crewe Intl CW2 6BG
    Phone #: +44- 87-0 7700 325
    800 #: --
    e-mail: [email protected]
    Home page: http://www.CLIMB.org.uk
  • Hide & Seek Foundation for Lysosomal Disease Research
    4123 Lankershim Blvd.
    North Hollywood CA 91602-2828
    Phone #: 818-762-8621
    800 #: N/A
    e-mail: [email protected]
    Home page: http://www.hideandseek.org
  • International Society for Mannosidosis & Related Diseases, Inc.
    1030 Saxon Hill Drive
    Cockeysville MD 21030
    Phone #: 410-628-9991
    800 #: N/A
    e-mail: [email protected]
    Home page: http://www/mannosidosis.org
  • Madisons Foundation
    PO Box 241956
    Los Angeles CA 90024
    Phone #: 310-264-0826
    800 #: N/A
    e-mail: [email protected]
    Home page: http://www.madisonsfoundation.org
  • National Institute of Neurological Disorders and Stroke (NINDS)
    31 Center Drive
    Bethesda MD 20892-2540
    Phone #: 301-496-5751
    800 #: 800-352-9424
    e-mail: [email protected]
    Home page: http://www.ninds.nih.gov/
  • National Tay-Sachs and Allied Diseases Association, Inc.
    2001 Beacon Street
    Brighton MA 02135
    Phone #: 617-277-4463
    800 #: 800-906-8723
    e-mail: [email protected]
    Home page: http://www.NTSAD.org
  • Vaincre Les Maladies Lysosomales
    2 ter avenue de Fance
    Massy None 91300
    Phone #: 01 -69 -75 40 30
    800 #: --
    e-mail: [email protected]
    Home page: http://www.vml-asso.org

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders, Inc. ? (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html