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 Neuronal Ceroid Lipofuscinosis
- Neuronal Ceroid Lipofuscinosis Type 1
- Infantile Type Neuronal Ceroid Lipofuscinosis
- Infantile Finnish Type Neuronal Ceroid Lipofuscinosis (Balkan Disease)
- 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.
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National Tay-Sachs and Allied Diseases Association, Inc.
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Batten Disease Support and Research Association
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Children's Brain Diseases Foundation
Parnassus Heights Medical Building
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San Francisco, CA 94117
Chromosome Disorder Outreach, Inc.
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NIH/National Eye Institute
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31 Center Dr MSC 2510
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National Institute of Neurological Disorders and Stroke (NINDS)
P.O. Box 5801
Bethesda, MD 20824
Tourtelotte, Wallace W., M.D.
National Neurological Research Bank
Neurology Research (W127A)
Wadsworth Medical Center
Los Angeles, CA 90073
Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
Hide & Seek Foundation for Lysosomal Disease Research
6475 East Pacific Coast Highway Suite 466
Long Beach, CA 90803
c/o Sara E Mole PhD
MRC Laboratory for Molecular Cell Biology
University College London
London, WC1E 6BT
Tel: 44 207 679 7257
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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