Batten disease

Batten disease
Synonyms	Spielmeyer-Vogt-Sjögren-Batten disease, Batten-Mayou disease, Vogt-Spielmeyer disease
Classification and external resources
Specialty	endocrinology
ICD-10	E75.4
ICD-9-CM	330.1
OMIM	204200
DiseasesDB	31534
MeSH	D009472
Orphanet	79264
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Batten disease is an extremely rare and fatal autosomal recessive neurodegenerative disorder that begins in childhood. It is the most common form of a group of disorders called the neuronal ceroid lipofuscinoses (NCLs).

Although Batten disease is usually regarded as the juvenile form of NCL (or "type 3"), some physicians use the term Batten disease to describe all forms of NCL. Historically, the NCLs were classified by age of disease onset as infantile NCL (INCL), late infantile NCL (LINCL), juvenile NCL (JNCL) or adult NCL (ANCL).

At least twenty genes have been identified in association with Batten disease, but juvenile NCL, the most prevalent form of Batten disease, has been linked to mutations in the CLN3 gene.

Early signs and symptoms of the disorder usually appear around ages 2–10, with gradual onset of vision problems, or seizures. Early signs may be subtle personality and behavior changes, slow learning or regression, repetitive speech or echolalia, clumsiness, or stumbling. There may be slowing head growth in the infantile form, poor circulation in lower extremities (legs and feet), decreased body fat and muscle mass, curvature of the spine, hyperventilation and/or breath-holding spells, teeth grinding, and constipation.

Over time, affected children suffer mental impairment, worsening seizures, and progressive loss of sight, speech and motor skills. Eventually, children with Batten disease become blind, bedridden, demented, and die. Batten disease is a terminal disease; life expectancy varies depending on the type or variation.

Females with juvenile Batten disease show first symptoms a year later than males but on average die a year sooner.

Neuronal ceroid lipofuscinoses (NCLs) are a family of diseases which are inherited in an autosomal recessive manner. Collectively referred to as Batten disease, the NCLs are responsible for the majority of neurodegnerative diseases that affect children. Specifically, the frequency of this disease is approximately 1 per 12,500 individuals. The specific type of NCL is characterized by the age of symptomatic onset and genetic mutation involved. Currently, it has been found that mutations in ten genes lead to the development Batten disease.

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