Disease Information for Infantile ceroid lipofuscinosis/Finnish (Santvuori-Haltia)

Santavuori Disease;CLN1; 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, an extremely rare inherited disorder, belongs to a group of progressive degenerative neurometabolic diseases known as the neuronal ceroid lipofuscinoses (NCL); These diseases 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; 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; The symptoms and physical characteristics of Santavuori Disease result due to abnormal accumulation of certain fatty, granular substances (ie, pigmented lipids [lipopigments] ceroid and lipofuscin) within nerve cells (neurons) of the brain as well as other tissues of the body; Santavuori Disease is inherited as an autosomal recessive genetic trait

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