Batten Disease
a rare fatal autosomal recessive neurodegenerative disorder that begins in childhood, it is caused by mutation of the cln3 gene.
early symptoms of the disorder usually appear around ages 4-10, with gradual onset of vision problems, or seizures. early signs may be subtle personality and behavior changes, slow learning or regression, repet-tive 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 m-ss, 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, and demented. batten disease is a life limiting disease, life expectancy varies depending on the type or variation.
it normally affects very young children of ages like 4-6, but has been known to affect older people as well, kufs affects adults and symptoms normally start in the 30’s.
the prognosis is about 5-7 years and there is currently no cure.
person 1: my son was just diagnosed with batten disease, the doctors say he has 5-7 years left and his condition will rapidly deteriorate.
person 2: i’m so sorry, i can’t imagine how horrible it would be for your child to have that disease.
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