Infantile neuronal ceroid lipfuscinosis
| Infantile neuronal ceroid lipfuscinosis | |
| OMIM | 256730 |
|---|---|
| DiseasesDB | 31533 |
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,perhaps 100 sufferers in total today[citation needed] – but relatively common in Finland due to the local 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 sufferers have been known to enjoy music. The average lifespan of an INCL child is 9–11 years.
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.