Metachromatic leukodystrophy. Adolescence and adult type. Arylsulfatase A (ASA) deficiency.
Incidence
AR disease.
Clinical Characteristics
In this condition, the course is variable. Patients present as failure in the school or difficulties in vocational or professional work, peculiarities in behavior or disturbance of cognitive function, associated with some motor abnormalities such as bipyramidal syndrome, ataxia or extrapyramidal signs which are detected sometimes later. MRI reveals alteration of white matter but usually less pronounced than in the earlier forms of the disease. Because of this varied presentation, the condition should be suspected in all patients of this age who exhibits deterioration of behavior and mental capacities, progressive disorder of locomotion or coordination and/or progressive polyneuropathy. The course of the adolescent and adult condition is variable and five to ten years survival in not unusual, but in few patients, evolution may be more rapid. Diagnosis is similar as in the earlier onset conditions.
Precipitants
no
Provocation Tests
no
Diagnostic Procedures
EB-W, EB-F. Diagnosis is similar as in the earlier onset conditions. A deficiency of arylsulfatase A (ASA) in leukocytes and cultured fibroblasts is observed as well as excessive sulfatiduria, which is constant.