krabbe disease…

Medical experts recommend this detailed explanation.

[ Find Organization | Index Page ]

globoid cell leukodystrophy, galactosylcerebrosidase deficiency, galactosylcereamidase deficiency, krabbe disease, inherited disorder characterized by a deficiency, the enzyme galactocerebroside beta-galactosidase, galactosylcereamidase, deficiency of this enzyme causes, death of brain cells, a process that underlies the symptoms seen in krabbe, krabbe disease is inherited, an autosomal recessive trait, most common among people of scandinavian descent, generally affects, 1 in 150,000 infants, absence, the enzyme galactocerebroside beta-galactosidase causes, increasing destruction of myelinated neurons, results in progressive destruction, the nervous system, krabbe disease has an early onset form, a late onset form, early form, symptoms begin, in the first months of life, feeding problems, failure to thrive, unexplained fevers, vomiting, changes in muscle tone, frequent, seizures, very early, severe, visual, hearing losses, progressive, children eventually assume an unusual, rigid body position, decerebrate posturing, death follows shortly thereafter, the second year of life, late onset form, the disease begins in late childhood, early adolescence, visual problems progressing to blindness the first symptom, gait disturbance, ataxia, muscle rigidity lead to progressive disability, infantile irritability, sensitivity to loud sounds, feeding difficulties, vomiting, failure to thrive, unexplained fevers, changing muscle tone from floppy to rigid, seizures, deterioration in function, nerves in brain, infant who ceases to follow faces, motion, indicates blindness, decreased hearing that progresses to deafness, examination, the retina, optic atrophy, abnormal posturing evident, opisthotonos, decerebrate posturing, in late stages, the disorder, signs of deafness, galactocerebroside beta-galactosidase levels in white blood cells , csf total protein, mri, the head (the best test to reveal abnormal white matter, the brain, nerve conduction velocity, showing delayed nerve conduction, evidence of demyelination, genetic testing, mutations in the galactosylceramidase gene, galc, no specific treatment, krabbe disease, bone marrow transplantation, its own risks, has been attempted in early stages, future there enzyme replacement therapy, in the early stages of development, of 2003, prevention by prenatal, genetic testing is available, united leukodystrophy foundation, - (800, 728-5483, outcome is likely to be poor, on average, infantile-onset cases die, 2 years of age, later-onset cases have survived into adulthood, neurologic disease, progressive central nervous system degeneration occurs, blindness, deafness, severe disturbances of muscle tone, disease, fatal, child develops symptoms of this disorder, seizures, loss of consciousness, abnormal posturing emergency symptoms, call a genetic counselor, family history of krabbe disease, genetic counseling, prospective parents, a family history of krabbe disease, prenatal diagnosis is possible by measuring galactocerebroside beta-galactosidase levels in cultured amniotic fluid cells, from cultured chorionic villus cells.