Krabbe leukodystrophy. Globoid cell leukodystrophy. Hypotonic variant. Galactosylceramidase (galactocerebrosidase beta-galactosidase) deficiency.
Incidence
Very rare. AR disease.
Clinical Characteristics
In this variant, there is no rigidity or stiffness but flaccidity and hypotonia with hypomotility and weakness as first signs. Deep tendon reflexes are depressed from the beginning and nerve conduction velocity are decreased. The hypotonia and weakness seems to be related to intense and precocious peripheral nerve involvement.
Precipitants
no
Provocation Tests
no
Diagnostic Procedures
Similar to early infantile Krabbe classical form.