Diseases & Conditions


Santavuori Disease

Synonyms of Santavuori Disease
  • CLN1
  • INCL
  • 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

Disorder Subdivisions

    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.

    Organizations related to Santavuori Disease
    • Batten Disease Support and Research Association
      166 Humphries Dr
      Reynoldsburg OH 43068
      Phone #: 740-927-4298
      800 #: 800-448-4570
      e-mail: [email protected]
      Home page: http//www.bdsra.org
    • Children's Brain Diseases Foundation
      350 Parnassus Avenue
      San Francisco CA 94117
      Phone #: 415-665-3003
      800 #: --
      e-mail: [email protected]
      Home page: N/A
    • Chromosome Disorder Outreach, Inc.
      P.O. Box 724
      Boca Raton FL 33429-0724
      Phone #: 561-395-4252
      800 #: N/A
      e-mail: [email protected]
      Home page: http://www.chromodisorder.org
    • Epilepsy Foundation
      4351 Garden City Drive
      Landover MD 20785
      Phone #: 301-459-3700
      800 #: 800-332-1000
      e-mail: [email protected]
      Home page: http://www.epilepsyfoundation.org
    • 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
    • NIH/National Eye Institute
      Building 31 Rm 6A32
      Bethesda MD 20892-2510
      Phone #: 301-496-5248
      800 #: --
      e-mail: [email protected]
      Home page: http://www.nei.nih.gov/
    • 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
    • Tourtelotte, Wallace W., M.D.
      National Neurological Research Bank
      Los Angeles CA 90073
      Phone #: 213-824-4307
      800 #: --
      e-mail: N/A
      Home page: N/A
    • 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