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PubMedDate not supplied

[Case of "Friedreich's paramyoclonus multiplex". Clinical and neurophysiologic study].

The author reports the case of 13 years old girl, who since at least three years displays very frequent partial involuntary contractions of some arm's and leg's muscles, especially on the right but also on the left side. The girl was examined with EEG and contemporary registration of the myogramm of the muscles in question and with EMG. The DD of the myoclonic syndrome, and especially between Schultze myochimie, Kny's fibrillar myoclonus and Friedereich paramyoclonus multiplex has been discussed. The conclusion was that the case under discussion, is a case of paramyoclonus multiplex of Friedereich.

Adolescent↗
PubMed1976

[Neuropsychiatric findings in a case of paramyoclonus multiplex].

In a subject affected with multiple paramyoclonus, showing asyncronous, bilateral, intermittent, spontaneous myoclonic jerks, a neuro-psychiatric investigation was performed. Several day-time poligraphic recordings were normal, while the night-time ones showed the lack of myoclonic jerks throughout the sleep. Metrazol activation pointed out a probable hyperexcitability of brain stem reticular formation. The psychiatric investigation, performed with a psychodynamic approach let realize the existence of a distortion of neuro-psychological functions due to an impaired elaboration of emotional information and psycho-structuring engrams. The Authors conclude for a posible convergence of biological and psychological factors causing the clinical symptoms.

Adult↗
PubMedDate not supplied

[Paramyoclonus multiplex (Friedreich's disease)].

The authors describe a case of benign myoclonic jerks in a man aged 45 years, followed-up during 3 years. The disease had a benign course and a tendency was observed for decreasing intensity of symptoms. Apart from disseminated myoclonic jerks and longer lasting muscle spasms no other neurological abnormalities were found. EMG demonstrated spontaneous and asynchronous discharges of groups of motor units corresponding to the observed myoaclonic jerks but no other pathological findings were elicited. Other laboratory investigations including CT of the brain gave normal results. Taking into account the onset and course of the disease, the objective state and the results of laboratory investigations a functional background of the disease could not be ruled out.

Anxiety, Separation↗
PubMed1976

Benign hereditary non-progressive chorea of early onset. Clinical genetics of the syndrome and report of a new family.

The syndrome of benign non-progressive chorea (of early onset) is described in three brothers and some of their relatives. Clinical genetic study of the family showed an autosomal dominant mode of inheritance and suggested presence of the gene in both sides of the family. Thus, the propositi might be homozygous for the dominant gene (suggested by increased clinical manifestations as compared with other affected members on both sides of the family) which shows relatively high penetrance and variable expressivity. The phenotypic spectrum of the syndrome is differentiated from similar observations in the literature, and genetic implications are discussed. The condition is differentiated from hereditary essential tremor and from paramyoclonus multiplex.

Adolescent↗
PubMed1982

An atypical form of familial myoclonus epilepsy. A case report.

A case of familial myoclonus epilepsy with progressive mental deterioration is presented. The genetic pattern, symptomatology, EEG recording and good response to anticonvulsant medication are discussed. This case does not conform to any known form of familial myoclonus epilepsy and is most probably an atypical form of paramyoclonus multiplex.

Adult↗