neuronal ceroid lipofuscinoses, ncls…

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lipofuscinoses, batten disease, jansky-bielschowsky, kufs' disease, spielmeyer-vogt, neuronal ceroid lipofuscinoses, ncls, a group of rare, inherited neurodegenerative disorders, the accumulation of an abnormal pigment, in the brain, lipofuscin, disorders, associated, severe diseases, blindness, mental retardation, early death, three main types, depending on the age it begins, late infantile, jansky-bielschowsky, juvenile, batten disease, adult, kufs, parry's disease, lipofuscin, generic name of an abnormal pigment that builds up in brain cells in this group of diseases, a consequence of, marker, disease rather than the cause, the problem, genetic bases of multiple types of this disease, evidence indicates, in the ability of brain cells to remove, recycle brain proteins, disorder evident at birth, commonly it is diagnosed some time, second year of life, teens, an adult, children develop muscle incoordination, ataxia, walking abnormalities, disturbances, visual problems, retardation, seizures, later appearance, the disease is associated, somewhat less severe disability early onset is typically associated, a shortened life span, lipofuscinoses, inherited, autosomal recessive traits, parents carry the trait, statistical liklihood, one of four children, have the disease, two of four children, entirely normal but be carriers, the trait, one of four children, entirely normal, not be a carrier, blindness, visual disturbance, ataxia, unsteady gait, mental retardation, decreasing mental function, dementia, deterioration of ability to think, seizures, abnormal increased muscle tone, spasm, myoclonus, movement disorder, choreoathetosis, tissue biopsy to demonstrate lipofuscin, aging pigment, storage, white blood cells, contain vacuoles, lipofuscin, detected by autofluorescence, electron microscopy of a skin biopsy, abnormal inclusions in cells, mri, ct scans, the brain, atrophy, shrinkage, small brain, eeg, abnormal excitability, the brain, seizure, evoked visual potentials reduced, absent, electroretinogram, reveal severe impairment of vision, genetic testing is available, multiple subtypes of this group of diseases, treatment depends on the specific symptoms, extent, a need, life-long assistance, care, information, bdsra, progressive visual disturbance to blindness, mental deterioration, disease is apparent, in the first year of life the child is unlikely to survive beyond 10 years of age, adult onset disease milder, no loss of vision, a normal life expectancy, visual impairment, blindness in early onset forms, mental impairment, range from severe retardation at birth to only late onset dementia, severe problems, the nerves that control muscle tone resulting in rigidity, become totally dependent on others, daily activities, signs, symptoms of blindness, retardation, present in child, genetic counseling is indicated in families, a known history, a discussion, the risks, family planning, useful, prenatal, preimplantation genetic testing available depending on the specific subtype of disease.