Schindler Disease

Schindler Disease
Synonyms
Disorder Subdivisions
General Discussion
Resources
For a Complete Report

Content provided by National Organization for Rare Disorders

Important

It is possible that the main title of the report Schindler Disease is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

Synonyms

Alpha-N-Acetylgalactosaminidase Deficiency, Schindler Type
Alpha-NAGA Deficiency, Schindler Type
Lysosomal Alpha-N-Acetylgalactosaminidase Deficiency, Schindler Type
Alpha-Galactosidase B Deficiency
GALB Deficiency
Alpha-GalNAc Deficiency, Schindler Type
Neuroaxonal Dystrophy, Schindler Type
Neuronal Axonal Dystrophy, Schindler Type

Disorder Subdivisions

Schindler Disease, Type I (Infantile Onset)
Schindler Disease, Infantile Onset
Infantile Onset Schindler Disease
Classic Schindler Disease
Schindler Disease, Type II (Adult Onset)
Adult Onset Schindler Disease
Lysosomal Glycoaminoacid Storage Disease-Angiokeratoma Corporis Diffusum
Angiokeratoma Corporis Diffusum-Glycopeptiduria
Kanzaki Disease

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).

Resources

CLIMB (Children Living with Inherited Metabolic Diseases)

Climb Building

176 Nantwich Road

Crewe, Intl CW2 6BG

United Kingdom

Tel: +44 870 7700 325

Fax: +44 870 7700 327

Email: info@climb.org.uk

Internet: http://www.CLIMB.org.uk

Vaincre Les Maladies Lysosomales

2 ter avenue de Fance

Massy, 91300

France

Tel: 01 69 75 40 30

Fax: 01 60 11 15 83

Email: accueil@vml-asso.org

Internet: http://www.vml-asso.org

National Tay-Sachs and Allied Diseases Association, Inc.

2001 Beacon Street

Suite 204

Brighton, MA 02135

USA

Tel: 6172774463

Fax: 6172770134

Tel: 8009068723

Email: info@ntsad.org

Internet: http://www.NTSAD.org

National Institute of Neurological Disorders and Stroke (NINDS)

31 Center Drive

8A07

Bethesda, MD 20892-2540

Tel: (301)496-5751

Fax: (301)402-2186

Tel: (800)352-9424

Email: braininfo@ninds.nih.gov

Internet: http://www.ninds.nih.gov/

International Society for Mannosidosis & Related Diseases, Inc.

1030 Saxon Hill Drive

Cockeysville, MD 21030

USA

Tel: 4106289991

Email: pres@mannosidosis.org

Internet: http://www/mannosidosis.org

Hide & Seek Foundation for Lysosomal Disease Research

4123 Lankershim Blvd.

Suite 302

North Hollywood, CA 91602-2828

Tel: (818)762-8621

Fax: (818)762-2502

Email: info@hideandseek.org

Internet: http://www.hideandseek.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

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.
It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report.
This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email orphan@rarediseases.org

Last Updated: 3/20/2000

Copyright 1995, 1996, 1998, 2000 National Organization for Rare Disorders, Inc.

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Last updated:	March 20, 2000

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