INCL, also known as Infantile Neuronal Ceroid Lipofuscinoses or Santavuori Disease is a form of NCL and inherited as a recessive autosomal genetic trait. The disorder is progressive, degenerative and fatal, extremely rare worldwide - with 60 official cases reported by 1982, but perhaps 100 sufferers, total today^{[citation needed]} - but relatively common in Finland due to the local founder effect. The Mendelian Inheritance in Man project is a database that catalogues all the known diseases with a genetic component, and - when possible - links them to the relevant genes in the human genome. ... The Diseases Database is a free website that provides information about the relationships between medical conditions, symptoms, and medications. ... NCL may refer to the following: A wide group of diseases known as neuronal ceroid lipofuscinosis. ... In genetics, the term recessive gene refers to an allele that causes a phenotype (visible or detectable characteristic) that is only seen in a homozygous genotype (an organism that has two copies of the same allele). ... An autosome is a non-sex chromosome. ... Genetics (from the Greek genno γεννώ= give birth) is the science of genes, heredity, and the variation of organisms. ... 1982 (MCMLXXXII) was a common year starting on Friday of the Gregorian calendar. ... Simple illustration of founder effect. ...

The development of children born with INCL is normal for the first 8-18 months, but will then flounder and start to regress both physically and mentally. Motor skills and speech are lost, and optic athropy causes blindness. A variety of neurological symptoms, such as epilepsy and myoclonic seizures, appear. The senses of hearing and touch remain unaffected, and sufferes have been known to enjoy music. The average lifespan of an INCL child is 9-11 years. Look up Speech in Wiktionary, the free dictionary. ... Blindness is the condition of lacking visual perception due to physiological or psychological factors. ... Myoclonic seizures are brief twitches or jerks of muscles or groups of muscles. ... Hearing, or audition, is one of the traditional five senses, and refers to the ability to detect sound. ... To meet Wikipedias quality standards, this article or section may require cleanup. ... Music is a form of art that involves organized and audible sounds and silence. ...

Treatment is limited. Drugs can alleviate the symptoms, such as sleep difficulties and epilepsy. Physiotherapy helps affected children retain the ability to remain upright for as long as possible, and prevents some of the pain. Recent attempts to treat INCL with Cystagon have been unsuccessful. Physical therapy can help restore lost functionality in many people. ...

External links

• http://www.neurologiasaatio.fi/index.php?id=13 - An overview (in Finnish)
• http://www.incl.fi/index.shtml - the INCL organization of Finland (in Finnish)
• 1982 report by Baumann and Markesbery on the disease