Dyssynergia cerebellaris myoclonica (Ramsay Hunt syndrome): a condition unrelated to mitochondrial encephalomyopathies.

Unverricht‐Lundborg Disease, a Condition with Self‐limited Progression: Long‐term Follow‐up of 20 Patients

“…This study is the first to report on a large number of ULD patients followed up over an extended period averaging >25 years. The clinical and neurophysiologic profile of the disease overlaps with that in previous reports (3,4,15,16). The percentage of severely handicapped patients with ULD (wheelchair-bound and/or bedridden) varies between 7% and 16% (patients 4 and 24), whereas 32-38% require help in everyday life (patients 3 and 24).…”

“…A high seizure frequency has been reported in the early stages of the disease, usually with a positive response to VPA and CZP (9), seizures occurring less frequently or disappearing (3,4,15). In this study, we observed a gradual decrease in seizure frequency with a statistically significant reduction between years 1 and 10 from onset.…”

“…Mental deterioration has been reported in patients with ULD of Finnish origin (2), with an IQ lowering of 10 points within 10 years (21). However, this finding has not been reported in patients with ULD of Mediterranean origin (4,5,15). Later, authors from Finland reported the intellectual level of patients with ULD to be normal, although a slow decline is often seen over time (22).…”

PME of Unverricht-Lundborg type in the Mediterranean region: linkage and linkage disequilibrium confirm the assignment to the EPM1 locus

“…Despite striking clinical similarities between Mediterranean myoclonus and Unverricht-Lundborg disease, it has long been debated whether they are the same disorder (Berkovic et al 1986;Andermann et al 1989;Marsden and Obeso 1989;Tassinari et al 1989;Genton et al 1990;Marseille Consensus Group 1990). However, for a few years, the consensus has been that Mediterranean myoclonus and Unverricht-Lundborg disease are clinically identical (Marseille Consensus Group 1990).…”

“…Box 21 (Haartmaninkatu 3), SF-00014 University of Helsinki, Finland though these two disease entities share many clinical features, they have been described separately over the years. Their diagnosis is difficult because there is no definitive biological marker, and the key clinical features are highly characteristic but not unique (Koskiniemi 1974(Koskiniemi , 1986Koskiniemi et al 1974aKoskiniemi et al , 1974bBerkovic et al 1986;Tassinari et al 1989;Genton et al 1990;Marseille Consensus Group 1990). For a few years, the consensus has been that both Baltic and Mediterranean myoclonus patients have a phenotypically identical disorder, viz.…”