Diagnosis of DRPLA rests on positive family history, clinical findings, and genetic testing. Family history can be difficult to obtain if a relative was misdiagnosed, died young, or experiences late onset of symptoms. Other diseases in the differential diagnosis of adult-onset DRPLA include Huntington's and the spinocerebellar ataxias. For juvenile-onset disease, familial essential myoclonus and epilepsy (FEME), Lafora, Unverricht-Lundborg, Neuroaxonal dystrophy, Gaucher's disease, Sialidosis, and Galactosialidosis should be considered.
Dentatorubral–pallidoluysian atrophy
Cerebellar abiotrophy
Central chromatolysis
Corticobasal degeneration
Olivopontocerebellar atrophy
Spinal muscular atrophy with lower extremity predominance 1
Cerebellar degeneration
Multi/minicore myopathy