Lafora Disease - Diagnosis

Diagnosis

Diagnosis is based on the demonstration of Lafora bodies within the apocrine sweat gland of the skin by an axillary skin biopsy examination. The inclusion bodies, which seem to contain high levels of carbohydrates, are typically labeled by a specific stain called PAS (Periodic acid-Schiff) which is resistant to diastase treatment. Under strong clinical suspicion, liver and brain biopsies may be undertaken. Currently the preferred method of certain diagnosis is DNA sequencing.