ABSTRACT
Somatosensory evoked potentials (SSEP) on n. medianus and n. tibialis stimulation were studied in 25 patients with multiple sclerosis (MS) and 30 normals (N). Sensory conduction velocity (SVC) calculated by indirect method using formula of Eisen and Nudelman (1979) in which instead of time parameters of F- and M-responses latencies of the N13 and N21 for hand and leg, respectively, of spinal SSEP was used. Normal spinal cord SCV was 60.8 +/- 1.3 m/s, SCV in MS was 51.9 +/- 10.7 m/s. Extreme dispersion of data in MS is caused by false "normal and paradoxically "increased" SCV values in patients. The causes of false results are analysed. In difference of Eisen and Nudelman methods, the proposed approach allows proper clinical interpretation of the false values and excludes possibility of diagnostic mistakes, as in each case the whole set of the data from cerebral and spinal SSEP is interpreted systematically.
Subject(s)
Evoked Potentials, Somatosensory/physiology , Median Nerve/physiopathology , Multiple Sclerosis/physiopathology , Neural Conduction/physiology , Spinal Cord/physiopathology , Synaptic Transmission/physiology , Tibial Nerve/physiopathology , Diagnostic Errors , Electric Stimulation , Humans , Multiple Sclerosis/diagnosis , Time FactorsABSTRACT
The authors describe a rare and little studied form (distal) of spinal amyotrophy. 12 patients were placed under observation. A group of patients with symmetric distal pareses of the hands and legs has been distinguished. Patients with long existent distal monoparesis of the hand or leg are described. The role of EMG in the differential diagnosis is emphasized.
Subject(s)
Foot/innervation , Hand/innervation , Hemiplegia/diagnosis , Muscles/innervation , Muscular Atrophy, Spinal/diagnosis , Adult , Diagnosis, Differential , Electromyography , Female , Hemiplegia/etiology , Humans , Male , Middle Aged , Muscular Atrophy, Spinal/complicationsABSTRACT
Neurologic manifestations were examined in 25 patients with the Ehlers-Danlos syndrome. Injuries to vessels of the brain and spine, arteriovenous malformation, muscular and vertebrogenic lesions, headaches, and vegetative disorders were diagnosed. The clinical and laboratory data are provided whatever the presence or lack of neurologic symptomatology. The problem of the pathogenesis and treatment of neurologic manifestations associated with the Ehlers-Danlos syndrome are discussed.
Subject(s)
Ehlers-Danlos Syndrome/complications , Nervous System Diseases/etiology , Adolescent , Adult , Cerebrovascular Disorders/diagnosis , Cerebrovascular Disorders/etiology , Cerebrovascular Disorders/therapy , Child , Female , Humans , Male , Middle Aged , Nervous System Diseases/diagnosis , Nervous System Diseases/therapy , Neuromuscular Diseases/diagnosis , Neuromuscular Diseases/etiology , Neuromuscular Diseases/therapyABSTRACT
Clinico-electromyographic characterization of 20 patients with different forms of the spinal muscular atrophy (bulbospinal in 8 patients, chronic proximal in 5, distal in 7) is reported. The patients displayed the characteristic clinical signs and neuronal changes in EMG. The latter data are specified for each form. The authors infer that the spinal muscular atrophy in adults, children and adolescents fall into one group, though differing in the onset age, type of inheritance, clinical features, severity and prognosis.
Subject(s)
Muscular Atrophy, Spinal/diagnosis , Adult , Aged , Chronic Disease , Electromyography , Female , Humans , Male , Middle Aged , Muscular Atrophy, Spinal/classification , Muscular Atrophy, Spinal/genetics , Muscular Atrophy, Spinal/physiopathologyABSTRACT
Examination of 37 patients with Marfan's syndrome has revealed acute disorders of the cerebral circulation, aneurysms of the spinal vessels, varicose spinal veins, myopathy-like syndrome, atlantal semiluxation, spondylolisthesis, epilepsy and cephalgia. The data of additional examinations conducted in patients with Marfan's syndrome with and without neurological symptomatology are presented. The questions concerning the prevention, pathogenesis and therapy of neurological disturbances associated with Marfan's syndrome are considered.
Subject(s)
Marfan Syndrome/diagnosis , Nervous System Diseases/diagnosis , Adolescent , Adult , Child , Female , Humans , MaleABSTRACT
Three adult patients with mitochondrial disease underwent clinical-morphological studies which demonstrated a diffuse and marked defect in mitochondria. The characteristic clinical picture of "ophthalmoplegia plus", a slow progression of the disease, the quantitative and structural changes in the mitochondria of muscle fibers justified the diagnosis of mitochondrial disease.
Subject(s)
Mitochondria, Muscle/ultrastructure , Ophthalmoplegia/pathology , Adolescent , Adult , Energy Metabolism , Female , Humans , Male , Microscopy, Electron , Mitochondria, Muscle/metabolism , Ophthalmoplegia/diagnosis , Ophthalmoplegia/genetics , SyndromeABSTRACT
The presented description of two cases of sporadic distal myopathy represents the first report on this disease published in the national literature. The clinical picture of the disease was consistent with that of five patients with this disease entity described in the world literature and was characterized by the disease onset in young age expressed in the form of distal muscular atrophies, a dramatic increase in the activity of serum creatine kinase, with electromyographic, histologic and electron microscopic findings indicating the presence of the myopathic process. A differential diagnosis from other diseases manifesting themselves in distal muscular atrophies is also outlined.
Subject(s)
Muscular Atrophy/diagnosis , Adolescent , Adult , Biopsy , Charcot-Marie-Tooth Disease/diagnosis , Clinical Enzyme Tests , Creatine Kinase/blood , Diagnosis, Differential , Electromyography , Female , Humans , Male , Muscles/pathology , Muscular Atrophy/pathology , NecrosisABSTRACT
Two cases of ophthalmoplegia-plus are described for the first time in the national literature. The clinical picture of both patients aged 7 and 15 years exhibited a characteristic triad: external ophthalmoplegia, retinitis pigmentosa and heart conduction impairments. In one patient, this triad was supplemented by neurosensory deafness, torsion dystonia and the myopathic syndrome, and in the other one, by ichthyosis, cerebellar symptomatology, the myopathic syndrome and a marked elevation of protein in the cerebrospinal fluid. In both patients, the diagnosis was supported by electron microscopic studies of a muscular biopsy-specimen which disclosed pronounced changes in the number, structure, size and form of mitochondria as well as the presence of glycogen and lipid drops accumulating near mitochondria.
Subject(s)
Arrhythmias, Cardiac/diagnosis , Ophthalmoplegia/diagnosis , Retinitis Pigmentosa/diagnosis , Abetalipoproteinemia/diagnosis , Adolescent , Child , Female , Glycogen/metabolism , Humans , Lipid Metabolism , Mitochondria, Muscle/ultrastructure , Muscles/metabolism , Muscles/pathology , SyndromeABSTRACT
Data of the clinical and laboratory examinations of 6 children (4 girls and 2 boys) with the syndrome of rigid vertebral column are presented. In half of them the syndrome appeared to be of family character. An analysis of the family history data pointed to the recessive type of the syndrome inheritance. The disease manifested itself in an impairment of the axial muscles (because of which the flexion of the neck and the trunk got sharply limited), a slight myopathic syndrome, scoliosis and cardiomyopathy. Histochemical examinations of biopsy specimens taken from the affected muscles showed prevalence of type I fibres and proliferation of the connective tissue. The data obtained were compared with those described in literature earlier, as well as with those obtained from patients with clinically similar forms, e. g. Rotauf's myodystrophy and multipivotal myopathy.
Subject(s)
Cardiomyopathies/diagnosis , Muscular Diseases/diagnosis , Scoliosis/diagnosis , Adolescent , Back , Cardiomyopathies/genetics , Child , Creatine Kinase/blood , Electromyography , Female , Humans , Male , Muscular Diseases/genetics , Scoliosis/genetics , SyndromeABSTRACT
Data of a clinico-morphological examination of 4 patients with the ophthalmoplegic form of myopathy are presented. An electronmicroscopic examination has made it possible to disclose the primary morphological defect in the mitochondria of the patients' muscles. The mitochondrial pathology manifested itself in an increase of the number of these organelles, changes of their shape and size, structural abnormalities and presence of inclusions. The pathology of the mitochondria in muscular fibres with normal structure of the latter's contractile apparatus, gradual destruction of the mitochondria, and deepening of the destructive changes in the mitochondria in parallel to the lysis of the myofibrillary apparatus give one grounds to speak about the primary character of the mitochondrial pathology in those patients, and to regard this disease as a variant of mitochondrial myopathies.
Subject(s)
Muscles/pathology , Ophthalmoplegia/pathology , Adult , Atrophy , Female , Glycogen/metabolism , Histocytochemistry , Humans , Lipid Metabolism , Male , Mitochondria, Muscle/ultrastructure , Muscles/metabolism , Muscles/ultrastructure , Myofibrils/ultrastructure , Ophthalmoplegia/metabolism , SyndromeABSTRACT
For the first time in Soviet literature a description of 2 cases is given; both sibs demonstrate a muscular weakness, hypotension, moderately expressed hypotrophy of the body muscles, extremities and face. There were also specific bone anomalies. An electron-microscopic study detected typical "nemaline structures" in the muscular fibres. The disease in both sibs was identical even in details. The authors discuss the possible mechanisms of motor disorders. Besides personal material the paper contains the main facts of modern literature in relation to the clinical picture and pathogenesis of nemaline myopathy.
Subject(s)
Muscles/ultrastructure , Muscular Diseases/congenital , Asthenia , Child , Female , Humans , Male , Microscopy, Electron , Muscular Diseases/pathology , Myofibrils/ultrastructure , SyndromeABSTRACT
For the first time in Soviet literature the authors describe a family where patients from 2 generations suffered from normokalemic periodical paralysis. The patients had undergone several examinations which confirmed this diagnosis. This report confirms the existence of a normopotassemic variant of periodical paralysis. The authors demonstrate the absence of a direct relation between the development of myoplegic attacks in these patients and disorders of the electrolyte balance. The histological studies of the muscular biopsy during the attacks detected a vacuolization of muscular fiberes. Histochemical studies of some metabolities of the carbohydrate metabolism did not detect any significant changes. The achieved results point only to an increase of the glyconeogenesis process and aerobie glycolisis.¿
Subject(s)
Paralyses, Familial Periodic/blood , Potassium/blood , Adolescent , Humans , Male , Middle Aged , Paralyses, Familial Periodic/diagnosisABSTRACT
The report deals with the results of a clinico-morphological study of 14 patients with Thomsen's myotonia. The muscles obtained during biopsy were studied by electron microscopy. It was established that in patients with a mild and moderate degree of the disease the muscle fibres did not differ from normal ones. Only in patients with severe forms of the disease was it possible to detect focal changes of the myofebrillar apparatus, a moderate hypertrophy of the sacrotubular system and an enlargement in the size of the mitochondria. These changes as it is assumed, are morphological expression of the myotonic phenomenon and reflect the changed functional relationships in the link Ca-troponin-actomyosine complex.
Subject(s)
Muscles/ultrastructure , Myotonia Congenita/pathology , Adult , Humans , Male , Microscopy, Electron , Microtubules/ultrastructure , Myofibrils/ultrastructure , Sarcoplasmic Reticulum/ultrastructureABSTRACT
The paper contains data of a clinico-morphological study of 14 patients with dystrophic myotonia. The muscular bioptate was studied by means of electron microscopy. In the muscular filaments there were 2 types of changes. In the initial phase of the disease there were focal changes in the myofibrillar apparatus, a mild hypertrophy of the sarcotubular system and an increase of the mitochondria. These changes are similar to disturbances in Thomson's myotonia. The existence of common traits in these disorders, motor disturbances and similar morphologocal changes permit to consider that they are an expression of a myotonical phenomenon. The second type of disorders was characterized by dystrophical and atrophical changes, with distinct correlations between the severity of the disease and expressiveness of morphological changes.
Subject(s)
Muscles/ultrastructure , Myofibrils/ultrastructure , Myotonic Dystrophy/pathology , Adult , Cell Nucleus/ultrastructure , Chromosome Aberrations , Chromosome Disorders , Humans , Mitochondria, Muscle/ultrastructure , Myotonic Dystrophy/genetics , Sarcoplasmic Reticulum/ultrastructureABSTRACT
The article presents data on the clinico-morphological study of three patients suffering from thyrotoxicosis with attacks of periodic paralysis. The muscles obtained by biopsy in two patients at the moment of attack and in one patient--in the absence of attack were investigated by the electron microscopy method. The data obtained make it possible to assume that in the thyrotoxic periodic paralysis the action of the thyroid hormones causes not only impairment of the mineral metabolism, but brings about changes in the structure of the membranes of the sarcolemma and T-system, which leads to disturbances of conductance of action potential into the fibre. These changes affect the function of the end cisterns and lead to distorsion of the processes of conjugation of excitation-contraction with resulting development of paresis and paralysis of muscles. Moreover, during the attack there take place secondary disturbances of carbohydrate metabolism, which aggravates the pathological process.
