Santavuori Disease

Important
It is possible that the main title of the report Santavuori 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

CLN1
INCL
Infantile Neuronal Ceroid Lipofuscinosis
Neuronal Ceroid Lipofuscinosis Type 1
Infantile Type Neuronal Ceroid Lipofuscinosis
Infantile Finnish Type Neuronal Ceroid Lipofuscinosis (Balkan Disease)
Santavuori-Haltia Disease

Disorder Subdivisions

None

General Discussion

Santavuori disease, a rare genetic disorder, belongs to a group of progressive degenerative neurometabolic diseases known as the neuronal ceroid lipofuscinoses (NCL). These disorders share certain similar symptoms and are distinguished in part by the age at which such symptoms appear. Santavuori disease is considered the infantile form of the neuronal ceroid lipofuscinoses. The NCLs are characterized by abnormal accumulation of certain fatty, granular substances (i.e., pigmented lipids [lipopigments] ceroid and lipofuscin) within nerve cells (neurons) of the brain as well as other tissues of the body. This may result in the progressive deterioration (atrophy) of certain areas of the brain in addition to neurological impairment and other characteristic symptoms and physical findings.

In most cases, infants with Santavuori disease appear to develop normally until approximately nine to 19 months of age. They may then begin to exhibit a delay in the acquisition of skills that require the coordination of mental and muscular activity (psychomotor retardation). In addition, affected infants begin to lose previously acquired physical and mental abilities (developmental regression). Affected infants may then experience a variety of symptoms including episodes of uncontrolled electrical disturbances in the brain (seizures), impaired ability to coordinate voluntary movements (cerebellar ataxia), abnormally diminished muscle tone (hypotonia), and repeated, brief, shock-like muscle spasms of the arms, legs, or entire body (myoclonic seizures). Affected infants also experience progressive visual impairment due to deterioration of the nerves of the eyes (optic nerves) that transmit impulses from the nerve-rich membranes lining the eyes (retina) to the brain (optic atrophy). Neurological impairment continues to progress and may be characterized by an inability to move voluntarily (immobility); sudden involuntary muscle spasms (spasticity); and lack of response to stimuli in the environment. Life-threatening complications may develop by the end of the first decade. Santavuori disease is inherited as an autosomal recessive trait.

Resources

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

Batten Disease Support and Research Association
166 Humphries Dr
Reynoldsburg, OH 43068
USA
Tel: 7409274298
Fax: 7409274298
Tel: 8004484570
Email: bdsra1@bdsra.com
Internet: http//www.bdsra.org

Children's Brain Diseases Foundation
350 Parnassus Avenue
Suite 900
San Francisco, CA 94117
USA
Tel: 4156653003
Fax: 4158633452
Email: Jrider6022@aol.com

Epilepsy Foundation
4351 Garden City Drive
Landover, MD 20785
Tel: (301)459-3700
Fax: (301)577-2684
Tel: (800)332-1000
TDD: (800)332-2070
Email: postmaster@efa.org
Internet: http://www.epilepsyfoundation.org

NIH/National Eye Institute
Building 31 Rm 6A32
31 Center Dr MSC 2510
Bethesda, MD 20892-2510
United States
Tel: 3014965248
Fax: 3014021065
Email: 2020@nei.nih.gov
Internet: http://www.nei.nih.gov/

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/

Tourtelotte, Wallace W., M.D.
National Neurological Research Bank
Neurology Research (W127A)
Veterans Administration
Wadsworth Medical Center
Los Angeles, CA 90073
Tel: (213)824-4307

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: 9/14/2006
Copyright 1997, 1998, 1999, 2006 National Organization for Rare Disorders, Inc.

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