Figure 6.

An empirical pipeline to facilitate LD personalized medicine

(A) LD progression is dependent on the type of mutation(s) carried by LD patients and where this places them with regard to the disease threshold of laforin function.

(B) A suspected LD diagnosis will be confirmed by genetic testing and classified for prognosis. Skin biopsies should also be performed to facilitate comparisons of LB load between patients. Nonsense, frameshift, or indel mutations in either EPM2A or EPM2B would be complete loss-of-function mutations and the most pathogenic. If known loss-of-function or EPM2A missense mutation(s) are identified, patient progression could be predicted immediately. If new EPM2A missense mutations are identified, mutant proteins could be characterized and classified within a matter of weeks to predict patient-specific clinical progression.