Adrenoleukodystrophy: a fatal disorder with new opportunities for prevention and treatment.
Adrenoleukodystrophy is an X-linked disorder characterized by adrenal insufficiency and progressive demyelination of the cerebral white matter. Young boys usually become symptomatic during pre- or primary school years and follow a time-variable, downhill, terminal course. Diagnostic and carrier testing and prenatal diagnosis are available. Several treatments have been used but presently treatment is symptomatic. Nursing in adrenoleukodystrophy involves management of issues including but not limited to diagnosis, genetics, counseling, physical care, emotional care, family care and research.
D000293:Adolescent; D000326:Adrenoleukodystrophy / Q000235:genetics / Q000451:nursing*; D000328:Adult; D002648:Child; D002675:Child, Preschool; D003131:Combined Modality Therapy; D004041:Dietary Fats / Q000008:administration & dosage; D002549:Diffuse Cerebral Sclerosis of Schilder / Q000451:nursing*; D005227:Fatty Acids / Q000378:metabolism; D006580:Genetic Carrier Screening; D006801:Humans; D008297:Male; D010375:Pedigree; D010641:Phenotype; D011296:Prenatal Diagnosis / Q000379:methods
D004041:Dietary Fats; D005227:Fatty Acids