Premium
PROGRESSIVE MYOCLONUS EPILEPSY
Author(s) -
Koskiniemi M.,
Donner M.,
Majuri H.,
Haltia M.,
Norio R.
Publication year - 1974
Publication title -
acta neurologica scandinavica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.967
H-Index - 95
eISSN - 1600-0404
pISSN - 0001-6314
DOI - 10.1111/j.1600-0404.1974.tb02782.x
Subject(s) - myoclonus , pediatrics , ataxia , epilepsy , medicine , disease , progressive myoclonus epilepsy , atrophy , dysarthria , psychology , audiology , psychiatry
The clinical picture and the progression of the disease in 93 cases of progressive myoclonus epilepsy in Finland were analysed. The disease was familial in 25 out of 67 families. The incidence was calculated to be one in 27000 live‐born children, i.e. three new cases each year. The early development and health of the patients was normaI. The first obvious symptom of the disease occurring at the age of 6 to 15 years was either myoclonus or grand mal seizures, the other following later. The characteristic clinical picture also included ataxia, intention tremor, dysarthria as well as emotional lability, but only a slight decrease in the intelligence level. Raised arterial pressure was seen in 14 per cent of cases. Symptoms from other organs were generally lacking. Resistance to infectious diseases seemed to be lower than normally. The thickness of the skull was increased but other disturbances of hone were not found. The pneumoencephalograms did not show any clear atrophy of the brain. The most essential feature of the disease was myoclonus which was provoked by light, touch and other stimuli and it was an important sign for the diagnosis. The increase of myoclonus finally made the patient unable to move unaided and to take care of himself and rendered him bedridden and helpless, most frequently at the age of 17 to 18 years. The average age at death was 24 years, about 14 years after the appearance of the first symptoms. In some patients the progress of the disease came to a halt after many years and these patients sometimes lived for up to 20–30 years after the beginning of the disease. A thorough neuropathological examination was made in one case and in five other cases some autopsy specimens from the brain were examined. Biopsy specimens from other tissues such as peripheral nerves, liver and muscle were examined in 26 cases. The most outstanding feature of the brain was loss of Purkinje cells. No Lafora bodies were found and no other signs of pathological accumulating material. Thus the Finnish cases of progressive myoclonus epilepsy do not belong to the Lafora body type of the disease. Clinically they differ from this type mainly on the basis of the fairly high intelligence level.