Clinical and electromyographic investigations in neural muscular atrophy in bizygotic twins and in their two relatives.
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Biomedical subjects
Publications and source records attributed to D Wochnik-Dyjas.
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The patients with hypoparathyroidism were studied carrying out: a) tetanic test (PT) for assessment of the degree of neuromuscular excitability and b) double stimulus test (PBP) for assessment of the efficiency of neuromuscular conduction. In six patients low values of calcium, high values of phosphorus and normal values of magnesium were found. In the remaining patients calcium level was decreased also but the phosphorus level was normal, while that of magnesium was low. In all patients the PT was normal while the PBP showed in the first group reduced efficiency of conduction and in the remaining cases increased neuromuscular conductivility. The possible interpretation of obtained results is discussed.
Spinocerebellar ataxia is a group of diseases with autosomal dominant inheritance heterogenous both clinically and genetically. So called dynamic mutations underlie most these nosological units. The clinical patterns of various SCA types have not yet been defined completely. The purpose of the present report was description of the typical symptoms and signs of type 1 SCA. Seventeen patients from 13 families (M-2, F-15) were studied clinically in detail. The diagnosis was confirmed by DNA analysis. The assessment included neurological status, cognitive functions, the results of EEG, EMG, SEP, VEP, BAER and MRI examinations. The pedigrees indicated autosomal dominant inheritance pattern. The mean age at onset was 35.5 +/- 6.8 years (range 23-45 years) and it suggested negative correlation with the number of CAG repetitions. Cerebellar syndrome limb and truncal, ataxia and dysarthria was present in all cases. Six patients had nystagmus, 3 had slow saccades, 2 had gaze limitation upward, and lateral and 6 had dysphagia. Signs of pyramidal system involvement were found in 10 cases, one had athetotic movements, one had orthostatic hypotension. Two patients had dementia features, 9 had some decline of intellectual functions, mainly with difficulties of memorization, learning and concentration. In 16 cases MRI demonstrated vermis atrophy and atrophy of cerebellar hemispheres, 14 had fourth ventricle dilatation, 8 had flattening of pons base, 8 had narrowing of cervical spinal cord, 8 had dilated CSF spaces over frontal lobes and in 6 cases lateral ventricles were dilated. Electrophysiological peripheral nervous system investigations showed in 16 cases long-standing damage to the motor and sensory peripheral neurons at the level of nerve trunks, more pronounced in sensory nerves. In 13 cases peripheral neuron damage was subclinical. SEP showed in all patients disturbed function of ascending sensory pathways at peripheral and spinocortical levels.
The study was performed on 62 healthy volunteers (123 nerves) using standard technical parameters. In every case the median nerve was stimulated at the level of II + III fingers and at the wrist. This enabled us to compare potentials evoked by sensory versus mixed nerve stimulation. It has been shown that a reliable evaluation of the somatosensory system is provided by stimulation of mixed nerve. The following montage seems to be the most useful in routine diagnosis. Erb's point - Erb's point, C VII - Fz, Fz - Shoulder, C3,4 - Fz. Additionally, according to clinical situation. C VII - Shoulder and C II - Fz derivations may be used. The Fz - Shoulder derivation enables to record far-field potentials and to control the effect of Fz reference on the waveform of potentials in order derivations. In the study normal values of the main median nerve SEP parameters are presented.
60 healthy volunteers ranging in age from 15 to 75 years participated in the study. Tibial nerve was stimulated unilaterally or bilaterally at the ankle and SEPs were recorded along the somatosensory pathway. Determination and readability of the potentials were evaluated according to the stimulating and recording method. After unilateral stimulation, the following derivation system was regarded as most useful in routine testing: L4 - Ic (iliac crest), Th12 - Ic, Cz' - Fz, Fz - Shoulder (and, if possible C7 - Fz). When more detailed spinal cord diagnosis is indicated, bilateral stimulation and recording in montage: Th6 - Shoulder, C7 - Shoulder, C7 - Fz, Fz - Shoulder may be helpful. In the study normal values of parameters of the potentials from certain derivations were presented: latencies, amplitudes, peripheral conduction velocities and central conduction times were taken into account. According to our own results (correlative analysis of SEP parameters) and the results of other authors, interpretation of the potentials on various levels of the ascending somatosensory pathway was discussed.
The authors present the principles of work of a computer system destined for evaluation of the results of routine electrophysiological examination of two muscles and four sensory nerves in alcohol-dependent subjects. The range of examinations and the programme based on discrimination analysis make possible, as shown in own investigations, an objective and complete evaluation of the state of the peripheral nervous system in these subjects. The programme is owned by the EMG laboratory of the Institute of Psychiatry and Neurology in Warsaw where it was introduced for clinical diagnosis, but it may be made available to other persons interested in these problems. An electromyograph with a stimulator with current exit averager and minicomputer, e.g. Commodore 64 with a printer are necessary.
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A group of 39 patients with alcoholic polyneuropathy (Alc) and another group of 33 patients with carbon disulphide polyneuropathy were studied by electrophysiological methods using an identical programme, and the results were compared. In both groups evidence was found of damage to the peripheral neuron of the type of axonal neuropathy with signs of axonal loss, with moderate slowing down of conduction velocity and with associated signs of regeneration. The dynamics of changes in the Alc group was greater. The cause of a slower rate of changes in the CS2 group seems to be related to a more gradual exposure to the damaging agent, while in alcohol-dependence the toxic agent has a more acute action, with remissions during abstinence and exacerbations during increased alcohol consumption.
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