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Unverricht syndrome (familial myoclonia syndrome; lafora disease)


Unverricht Syndrome (Familial Myoclonia Syndrome; Lafora Disease)

General: Fatal hereditary form of diffuse neuronal dise 727h79h ase; autosomal recessive; late childhood; death within 2 to 10 years from onset of symptoms.

Ocular: Amaurosis; laminated Lafora bodies in ganglion cell and inner nuclear layers of the retina, either intracellular or extracellular, in inner plexiform and nerve fiber layers, and in the optic nerve.

Clinical: Major epilepsy; widespread myoclonus; dementia; tetraplegia; pseudobulbar palsy; generalized tonic-clonic seizure; behavioral changes; brisk tendon reflexes; cerebellar signs.

Acharya JN, et al. Lafora's disease in south India: a Clinical, electrophysiologic, and pathologic study. Epilepsia 1993; 34:476-487.

Kaufman MA, et al. Late-onset Lafora's disease with typical intraneural inclusions. Neurology 1993; 43:1246-l248.

Riedl JL, et al. Electrophysiological and neuropharmacological studies in a patient with Unverricht-Lafora's disease. Neurology 1967; 17:502.

Unverricht H. Die myokionie. Berlin: Franz Denticke, 1891.




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