Definition:
Hereditary ceroid lipofuscinosis (also known as Batten Disease or NCL) is a fatal, inherited disorder of the nervous system that starts in childhood. In some cases, the early signs are subtle, taking the form of personality and behavior changes, clumsiness, slow learning, or stumbling.
Diagnosis:
Because vision loss is usually an early sign, Batten disease may be first suspected during an eye exam. An eye doctor can detect a loss of cells within the eye that arises in the three childhood forms of NCL. However, because such cell loss arises in other eye diseases, the disorder cannot be diagnosed by this sign alone. An eye specialist or other physician who suspects NCL may refer the patient to a neurologist.
Treatment:
There is currently no specific treatment known that can halt or reverse the symptoms of Batten disease. However, seizures can sometimes be reduced or controlled with anticonvulsant drugs, and other medical problems can be treated appropriately as they occur. Physical therapy and occupational therapy may aid patients in retaining functioning as long as possible.
Symptoms and Signs:
Early symptoms of this disorder typically appear around ages 4-10, with gradual onset of vision problems, or seizures. There may be slowing head growth in the infantile form, poor circulation in lower extremities (legs and feet), curvature of the spine, decreased body fat and muscle mass, hyperventilation and/or breath-holding spells, constipation, and teeth grinding.
Causes:
Symptoms of Batten disease and other NCLs are associated to a buildup of substances called lipopigments in the body's tissues.
:
hereditaryceroidlipofuscinosis
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