NCLS disorders involve a build-up of an abnormal material in the brain called lipofuscin. The genetic structure of NCLS diseases are not known, but evidence suggests problems in the ability of brain cells to remove and recycle proteins. The disorder may be evident at birth, but it is usually diagnosed much later. Children develop muscle incoordination (ataxia), walking problems, visual problems, retardation, and seizures. The younger the person is when the disease appears, the greater the risk for disability and early death. Lipofuscinoses are inherited as autosomal recessive traits. That means, if both parents carry the trait, each child has: - One in four chances to have the disease
- Two in four chances to be entirely normal but be a carrier of the trait
- One in four chances to be entirely normal and not be a carrier
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