National Organization for Rare Disorders, Inc.
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.
- Infantile Finnish Type Neuronal Ceroid Lipofuscinosis (Balkan Disease)
- Infantile Neuronal Ceroid Lipofuscinosis
- Infantile Type Neuronal Ceroid Lipofuscinosis
- Neuronal Ceroid Lipofuscinosis Type 1
- Santavuori-Haltia Disease
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.
Batten Disease Support and Research Association
- 1175 Dublin Road.
- Columbus, OH 43215
- Tel: (866)648-8718
- Email: firstname.lastname@example.org
- Website: http://www.bdsra.org
Children's Brain Diseases Foundation
- 350 Parnassus Avenue
- Suite 900
- San Francisco, CA 94117
- Tel: (415)665-3003
- Fax: (415)665-3003
- Email: email@example.com
Chromosome Disorder Outreach, Inc.
- P.O. Box 724
- Boca Raton, FL 33429-0724
- Tel: (561)395-4252
- Fax: (561)395-4252
- Email: firstname.lastname@example.org
- Website: http://www.chromodisorder.org/
- 8301 Professional Place
- Landover, MD 20785-7223
- Tel: (866)330-2718
- Fax: (877)687-4878
- Tel: (800)332-1000
- Email: ContactUs@efa.org
- Website: http://www.epilepsyfoundation.org
Genetic and Rare Diseases (GARD) Information Center
- PO Box 8126
- Gaithersburg, MD 20898-8126
- Tel: (301)251-4925
- Fax: (301)251-4911
- Tel: (888)205-2311
- Website: http://rarediseases.info.nih.gov/GARD/
Hide & Seek Foundation for Lysosomal Disease Research
- 6475 East Pacific Coast Highway Suite 466
- Long Beach, CA 90803
- Tel: (877)621-1122
- Fax: (866)215-8850
- Email: email@example.com
- Website: http://www.hideandseek.org
- c/o Sara E Mole PhD
- MRC Laboratory for Molecular Cell Biology
- London, WC1E 6BT
- United Kingdom
- Tel: 442076797257
- Email: firstname.lastname@example.org
- Website: http://www.ucl.ac.uk/ncl
NIH/National Eye Institute
- 31 Center Dr
- MSC 2510
- Bethesda, MD 20892-2510
- United States
- Tel: (301)496-5248
- Fax: (301)402-1065
- Email: email@example.com
- Website: http://www.nei.nih.gov/
NIH/National Institute of Neurological Disorders and Stroke
- P.O. Box 5801
- Bethesda, MD 20824
- Tel: (301)496-5751
- Fax: (301)402-2186
- Tel: (800)352-9424
- Website: http://www.ninds.nih.gov/
National Tay-Sachs and Allied Diseases Association, Inc.
- 2001 Beacon Street
- Brookline, MA 02146-4227
- Tel: (617)277-4463
- Fax: (617)277-0134
- Tel: (800)906-8723
- Email: firstname.lastname@example.org
- Website: http://www.NTSAD.org
Vaincre Les Maladies Lysosomales
- 2 Ter Avenue
- Massy, 91300
- Tel: 169754030
- Fax: 160111583
- Email: email@example.com
- Website: http://www.vml-asso.org
For a Complete Report
This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".
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 firstname.lastname@example.org
Last Updated: 1/18/1970
Copyright 2006 National Organization for Rare Disorders, Inc.
Healthwise, Healthwise for every health decision, and the Healthwise logo are trademarks of Healthwise, Incorporated.