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Abstract
A report is given of an association of dyssynergia cerebellaris myoclonica associated
with Friedreich's ataxia and mitochondrial myopathy in 2 patients. They had suffered
from gradually increasing bursts of myoclonus since the age of 14 and childhood, respectively.
The other striking clinical features included generalized convulsions, mental deterioration,
intention tremor, ataxia, muscular atrophy and deformity of feet. Muscle biopsies
revealed ragged-red fibres in both cases. On electron microscopy these fibres contained
subsarcolemmal aggregations of abundant abnormal mitochondria with proliferation of
inner membranes or paracrystalline inclusions. One of these patients showed elevated
blood lactate and pyruvate with an increased lactate/pyruvate ratio, apparently of
primary origin. These 2 cases resemble those reported briefly by Tsairis et al. (1974).
An association of dyssynergia cerebellaris myoclonica associated with Friedreich's
ataxia and mitochondrial myopathy in these 2 patients is unlikely to be coincidental
but may represent one nosological entity. This myoclonus epilepsy syndrome associated
with ragged-red fibres is compared with other possibly related mitochondrial encephalomyopathies.
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Article info
Publication history
Accepted:
March 13,
1980
Received:
January 2,
1980
Footnotes
☆This work was supported by a grant from the Ministry of Health and Welfare, Japan.
Identification
Copyright
© 1980 Published by Elsevier Inc.
