RESUMO
Inherited neuromuscular disorder (NMD) is a wide term covering different genetic disorders affecting muscles, nerves, and neuromuscular junctions. Genetic and clinical heterogeneity is the main drawback in a routine gene-by-gene diagnostics. We present Czech NMD patients with a genetic cause identified using targeted next-generation sequencing (NGS) and the spectrum of these causes. Overall 167 unrelated patients presenting NMD falling into categories of muscular dystrophies, congenital muscular dystrophies, congenital myopathies, distal myopathies, and other myopathies were tested by targeted NGS of 42 known NMD-related genes. Pathogenic or probably pathogenic sequence changes were identified in 79 patients (47.3%). In total, 37 novel and 51 known disease-causing variants were detected in 23 genes. In addition, variants of uncertain significance were suspected in 7 cases (4.2%), and in 81 cases (48.5%) sequence changes associated with NMD were not found. Our results strongly indicate that for molecular diagnostics of heterogeneous disorders such as NMDs, targeted panel testing has a high-clinical yield and should therefore be the preferred first-tier approach. Further, we show that in the genetic diagnostic practice of NMDs, it is necessary to take into account different types of inheritance including the occurrence of an autosomal recessive disorder in two generations of one family.
Assuntos
Testes Genéticos , Doenças Musculares/genética , Distrofias Musculares/genética , Análise de Sequência de DNA , Adolescente , Adulto , República Tcheca/epidemiologia , Feminino , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Masculino , Doenças Musculares/epidemiologia , Doenças Musculares/fisiopatologia , Distrofias Musculares/epidemiologia , Distrofias Musculares/fisiopatologia , Mutação , Adulto JovemRESUMO
PURPOSE: The aim of this prospective observational cohort study was to evaluate long-term outcomes in patients with mild-to-moderate lumbar spinal stenosis (LSS) and to analyse the predictors of clinical outcomes. METHODS: A group of 53 patients were re-examined after a median period of 139 months. Evaluations were made of subjective clinical outcome, objective clinical outcome and its predictors, any correlation between subjective and objective outcome, and the development of changes in radiological and electrophysiological parameters after 12 years. RESULTS: Satisfactory objective and subjective clinical outcomes were recorded in 54.7 and 43.4% of patients, respectively. No statistically significant correlation between objective and subjective clinical outcome was found (Spearman coefficient = 0.225, p = 0.132). Patients with isolated unsatisfactory subjective outcome exhibited the highest Functional Comorbidity Index of all subgroups. Electrophysiological and radiological findings did not demonstrate statistically significant changes after 12-year follow-up. Multivariate logistic regression confirmed only the lowest transverse diameter of spinal canal â¦13.6 mm as an independent predictor of unsatisfactory clinical outcome (OR = 5.51). CONCLUSIONS: Satisfactory objective and subjective clinical outcomes were disclosed in about half of the patients with mild-to-moderate LSS in a 12-year follow-up. The number of comorbid diseases had an unfavourable effect on subjective evaluation of clinical outcome. The lowest transverse diameter of spinal canal proved to be the only independent predictor of deterioration of clinical status in LSS patients.
Assuntos
Vértebras Lombares , Estenose Espinal/cirurgia , Idoso , Comorbidade , Feminino , Seguimentos , Humanos , Modelos Logísticos , Vértebras Lombares/fisiopatologia , Vértebras Lombares/cirurgia , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Estenose Espinal/epidemiologia , Estenose Espinal/fisiopatologia , Resultado do TratamentoRESUMO
BACKGROUND AND AIM: The Oswestry Disability Index (ODI) is an interview-based instrument generally accepted as a measure of disability in patients with lumbar spinal stenosis (LSS). There is, however, no generally accepted measure for neurological impairment in LSS. We therefore developed a scoring system [neurological impairment score in lumbar spinal stenosis (NIS-LSS)] for the assessment of neurological impairment in the lower limbs of patients with LSS, then performed a validation study to facilitate its implementation in the routine clinical evaluation of patients with LSS. METHODS: The NIS-LSS is based on the combined evaluation of tendon reflexes, tactile and vibratory sensation, pareses, and the ability to walk and run; the total score ranges from 0 (inability to walk) to 33 points (no impairment). A group of 117 patients with LSS and a control group of 63 age- and sex-matched healthy volunteers were assessed with the NIS-LSS to evaluate capacity to discriminate between LSS patients and controls. A correlation with the ODI was performed for assessment of construct validity. RESULTS: The median NIS-LSS was 27 points in LSS patients compared with 33 points in controls. The NIS-LSS discriminated LSS patients from healthy controls to a high degree of significance: the optimum NIS-LSS cut-off value was 32 points with a sensitivity of 85.5% and a specificity of 81.3% (p < 0.001). Overall NIS-LSS correlated significantly with the ODI score (p < 0.001). Vibratory sensation (p = 0.04), presence of paresis (p = 0.01) and especially the ability to walk and run (p < 0.001) were the NIS-LSS elements that correlated most closely with the degree of disability assessed by the ODI. CONCLUSIONS: The NIS-LSS is a simple and valid measure of neurological impairment in the lower limbs of patients with LSS (without comorbidity), discriminating them from healthy controls to a high degree of sensitivity and specificity and correlating closely with the degree of disability. It extends our ability to quantify neurological status and to follow changes arising out of the natural course of the disease or the effects of treatment.
Assuntos
Avaliação da Deficiência , Vértebras Lombares , Doenças do Sistema Nervoso/diagnóstico , Estenose Espinal/fisiopatologia , Idoso , Idoso de 80 Anos ou mais , Estudos de Casos e Controles , Técnicas de Diagnóstico Neurológico , Feminino , Humanos , Extremidade Inferior/fisiopatologia , Masculino , Pessoa de Meia-Idade , Doenças do Sistema Nervoso/fisiopatologia , Reflexo de Estiramento/fisiologia , Sensibilidade e Especificidade , Tato/fisiologia , Caminhada/fisiologiaRESUMO
PURPOSE: The natural course of lumbar spinal stenosis (LSS) fluctuates and is not necessarily progressive. The aim of this study was to explore the predictors of clinical outcome in patients with LSS that might eventually help to optimise the therapeutic choices. METHODS: A group of 56 patients (27 men, 29 women, median age 55; range 31-72 years) with clinically symptomatic mild-to-moderate LSS were re-examined after a median period of 88 months and their clinical outcomes classified as satisfactory (34 patients, 60.7 % with stable or improved clinical status) or unsatisfactory (22 patients, 39.3 % for whom clinical status deteriorated). A wide range of demographical, clinical, imaging and electrophysiological entry parameters were evaluated as possible predictors of clinical outcome. RESULTS: Unlike the demographical, clinical and imaging variables, certain electrophysiological parameters were significantly associated with unsatisfactory outcomes. There was a significantly higher prevalence of pluriradicular involvement detected by EMG in patients with unsatisfactory outcome than those with satisfactory outcome (68.2 vs. 32.3 %; p = 0.035). Patients with unsatisfactory outcome had more frequent bilateral abnormalities of the soleus H-reflex (50.0 vs. 14.7 %; p = 0.015) and lower mean H-reflex amplitude. Multivariate logistic regression proposed two variables as mutually independent predictors of unsatisfactory outcome: EMG signs of pluriradicular involvement (OR = 3.72) and averaged soleus H-reflex amplitude ≤ 2.8 mV (OR = 2.87). CONCLUSIONS: Satisfactory outcomes were disclosed in about 61 % of the patients with mild-to-moderate LSS in a 7-year follow-up. Electrophysiological abnormalities, namely the presence of pluriradicular involvement and abnormalities of the soleus H-reflex, were predictive of deterioration of clinical status in these patients.
Assuntos
Estenose Espinal/complicações , Estenose Espinal/fisiopatologia , Adulto , Idoso , Progressão da Doença , Eletromiografia , Feminino , Reflexo H/fisiologia , Humanos , Vértebras Lombares , Masculino , Pessoa de Meia-Idade , Razão de Chances , Curva ROCRESUMO
UNLABELLED: Neurogenic claudication (NC) is typical of lumbar spinal stenosis (LSS). One suspected pathophysiological mechanism underlying NC is intermittent hypoxia of cauda equina fibres resulting from venous pooling, which may lead to ischaemic nerve conduction failure and to transient clinical and electrophysiological changes after exercise. The aim of this study was to evaluate the appearance of significant transient electrophysiological abnormalities after walking exercise in patients with LSS and to establish the contribution of dynamic electrophysiological examination in the differential diagnostics of patients with LSS. The study participants were 36 consecutive patients with LSS demonstrated by computed tomography (CT). The control groups included, respectively, 28 patients with diabetes mellitus and clinically manifested polyneuropathy, and 32 healthy volunteers. The LSS patients were divided into four subgroups based on the clinical severity of the disease (with respect to the presence or absence of NC in the history and pareses on neurological examination). Soleus H-reflex, tibial F-wave and motor evoked potentials (MEPs) to abductor hallucis muscle were examined in all groups, before and after quantified walking on a treadmill. The electrophysiological parameters measured after an exercise treadmill test (ETT) in LSS patients and in both control groups were compared with the same parameters obtained before ETT. The study shows that the electrophysiological parameters reveal minimal but statistically significant changes after walk loading in patients with LSS (a prolongation of the minimal latency of the tibial F-wave and of the latency of the soleus H-reflex). The changes in these parameters were demonstrated not only in patients with NC but also in patients without NC. More pronounced changes were found in LSS patients exhibiting chronic lower extremity pareses. CONCLUSIONS: From among a large battery of electrophysiological tests, only the minimal latency of the tibial F-wave and the latency of the soleus H-reflex exhibit changes after walk loading in patients with LSS. These are minimal but statistically significant. Dynamic electrophysiological examination can illustrate the pathophysiology of NC in LSS, but from a practical point of view its contribution to the differential diagnostics of LSS or diabetic polyneuropathy is limited by an absence of established cut-off values.
Assuntos
Eletromiografia/métodos , Vértebras Lombares/fisiopatologia , Condução Nervosa/fisiologia , Estenose Espinal/diagnóstico , Adulto , Estudos de Casos e Controles , Estudos de Coortes , Diagnóstico por Imagem/métodos , Eletrofisiologia/métodos , Teste de Esforço , Feminino , Reflexo H/fisiologia , Humanos , Masculino , Pessoa de Meia-Idade , Exame Físico/métodos , Sensibilidade e Especificidade , Índice de Gravidade de DoençaRESUMO
The X-linked Emery-Dreifuss muscular dystrophy (X-EDMD) is a hereditary muscle disorder associated with cardiac involvement. Sinus node dysfunction and atrioventricular conduction defects, typical of X-EDMD, occur in both males and females and may result in sudden cardiac death unless treated by permanent pacing. The objective of the study was to determine the frequency and relevance of X-EDMD in heart conduction system disease in young individuals treated with a pacemaker implant. The medical history of 3450 paced individuals in the region of South Moravia, Czech republic, was reviewed. Thirty-five patients, 20 males and 15 females, with idiopathic heart conduction disease of onset before age 40 were identified and screened for X-EDMD. Within these 35 individuals, only one male was found to carry a mutation in X-EDMD gene. We conclude that the clinical relevance of X-EDMD in heart conduction system disease is very low. It should, however, be included into the diagnostic work-up of young male individuals with idiopathic cardiac conduction disturbances.
Assuntos
Arritmias Cardíacas/fisiopatologia , Sistema de Condução Cardíaco/fisiopatologia , Distrofia Muscular de Emery-Dreifuss/etiologia , Marca-Passo Artificial , Adolescente , Adulto , Bases de Dados como Assunto/estatística & dados numéricos , Feminino , Humanos , Imuno-Histoquímica/métodos , Masculino , Proteínas de Membrana/metabolismo , Pessoa de Meia-Idade , Mucosa Bucal/metabolismo , Músculo Esquelético/metabolismo , Proteínas Nucleares , Timopoietinas/metabolismoAssuntos
Cardiopatias/genética , Lamina Tipo A/genética , Laminas/genética , Distrofias Musculares/genética , Mutação , Adolescente , Adulto , Arritmias Cardíacas/diagnóstico , Arritmias Cardíacas/genética , Cardiomiopatia Dilatada/diagnóstico , Cardiomiopatia Dilatada/genética , Criança , Análise Mutacional de DNA , Humanos , Proteínas de Membrana/genética , Pessoa de Meia-Idade , Distrofias Musculares/diagnóstico , Distrofia Muscular de Emery-Dreifuss/diagnóstico , Distrofia Muscular de Emery-Dreifuss/genética , Proteínas Nucleares , Fenótipo , Timopoietinas/genéticaRESUMO
UNLABELLED: The Emery-Dreifuss muscular dystrophy is caused by muscular lesions and disorders of cardial rhythm and/or by cardiomyopathy. An autosomal dominant form is related to mutations of genes, which are coding for lamins A/C. GROUP AND METHODS: In the group A the authors examined 37 patients with the diagnosis of dilatation cardiomyopathy (DKMP) and the mean ejection fraction 28.4; 8.8%. In the group B of 13 patients a cardiac stimulator was implanted for a rhythm disorder. Both groups were subjected to cardiological, neurological, clinical and electromyographic (EMG) examinations. A muscle biopsy from m. vastus lateralis was made and the sample was evaluated by histology, histochemistry and immunohistochemistry. The coding sequences of genes for lamins were amplified by polymerase chain reaction and the products were analyzed by the DHPLC method (denaturing higher performance liquid chromatography). RESULTS: In the group A there was a clinically myopathic picture in three patients, while EMG examination revealed a myogenic finding in 12 patients and a marginally myogenic one in five patients. The histological finding in 12 patients was evaluated as myogenic and marginally myogenic in six. In one patient the mutation analysis revealed mutation in the gene for lamin A/C. A myogenic finding in this patient was determined by EMG as well as by histological examination and the autosomal dominant form of the Emery-Dreifuss muscular dystrophy was therefore diagnosed. In the group B one patient displayed a myopathic neurological finding and a myogenic finding during EMG. A subsequent mutation analysis revealed a mutation in the gene for lamin A/C. The case was therefore the autosomal dominant form of the Emery-Dreifuss muscular dystrophy. In the other patients the clinically marginal myopathic finding was observed once, a marginally myogenic finding during EMG was seen five times, histology and immunochemistry revealed a myogenic finding once and a marginally myogenic finding also once. The other findings were within normal range. CONCLUSIONS: A careful neurological examination including EMG determined symptoms of skeletal muscle myopathies in a surprisingly high percentage of our cardiological patients. This observation draws attention to the need of neurological examination in patients with DKMP in order to discovered disorder in this area in time. In two patients mutations in genes coding lamins A/C were detected. It would be useful to analyze also genes coding for other cytoskeletal proteins in the future.
Assuntos
Cardiomiopatia Dilatada/genética , Lamina Tipo A/genética , Distrofia Muscular de Emery-Dreifuss/genética , Adulto , Análise Mutacional de DNA , Feminino , Humanos , MasculinoRESUMO
Lumbar spinal stenosis (LSS) and diabetic polyneuropathy are common ailments of older age. Many people suffer from both at the same time. In such patients it may sometimes be difficult to separate signs and symptoms that could be attributed to either disease. This study evaluates the contributions and limits of various tests, especially the exercise treadmill test (ETT) and electrophysiological examination, in the diagnostics of patients with mild LSS. Twenty-nine patients with mild LSS documented by computed tomography (CT) participated in this study. Sixteen of the patients had neurogenic claudication (LSS NC+), and 13 patients did not (LSS NC-). Patients with LSS were compared with a group of 24 patients with diabetic polyneuropathy and 25 healthy volunteers. The distance covered, the time spent walking and the reasons for preliminary termination of the ETT were evaluated in all groups. Initial electrophysiological examination included electromyography (EMG) from the upper and lower extremities and motor evoked potentials (MEPs) to the lower extremities. LSS NC+ patients covered a significantly shorter distance and the time spent walking was significantly shorter than in LSS NC- patients and in the two control groups. The main reason for preliminary termination of the ETT was the development of NC in 67% of the LSS NC+ patients. In contrast, no LSS NC- patient and none from the control groups revealed NC, but 31% of LSS NC- patients were not able to finish the ETT for other reasons (e.g. dyspnoea). Electrophysiological parameters evaluated from the upper extremities distinguished diabetic patients from LSS patients. The latencies of the tibial F-wave, soleus H-reflex and spinal MEP response reliably distinguished healthy volunteers from diabetic patients and LSS patients, and particularly LSS patients from diabetic patients. The chronodispersion of the tibial F-wave distinguished LSS NC+ patients from the other groups. The results of the study show that electrophysiological examination contributes to the differential diagnostics between mild lumbar spinal stenosis and diabetic polyneuropathy. The contribution of electrophysiological methods in verification of NC in LSS patients is limited (chronodispersion of the tibial F-wave only). The ETT is useful in confirmation of NC and walking capacity verification, but restriction of walking capacity should be carefully analysed.
Assuntos
Neuropatias Diabéticas/patologia , Neuropatias Diabéticas/fisiopatologia , Estenose Espinal/patologia , Estenose Espinal/fisiopatologia , Diagnóstico Diferencial , Eletromiografia , Eletrofisiologia , Potencial Evocado Motor , Teste de Esforço , Feminino , Reflexo H/fisiologia , Humanos , Claudicação Intermitente/etiologia , Região Lombossacral/diagnóstico por imagem , Região Lombossacral/patologia , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Radiografia , Estenose Espinal/complicações , Estenose Espinal/diagnóstico por imagem , Extremidade Superior/fisiopatologiaRESUMO
A screening for mutation in the X-linked Emery-Dreifuss muscular dystrophy (X-EMD) gene was performed among patients affected with severe heart rhythm defects and/or dilated cardiomyopathy. Patients were selected from the database of the Department of Cardiology of the University Hospital Brno. One patient presented a mutation in the X-EMD gene and no emerin in his skeletal muscle. The patient had a severe cardiac disease but a very mild muscle disorder that had not been diagnosed until the mutations was found. This case shows that mutations in X-EMD gene, as it was shown for autosomal-dominant EMD, can cause a predominant cardiac phenotype.
Assuntos
Cardiomiopatias/genética , Cardiomiopatias/fisiopatologia , Ligação Genética , Sistema de Condução Cardíaco/fisiopatologia , Distrofia Muscular de Emery-Dreifuss/genética , Mutação , Cromossomo X/genética , Adulto , Humanos , Masculino , Proteínas de Membrana/deficiência , Músculo Esquelético/metabolismo , Músculo Esquelético/fisiopatologia , Distrofia Muscular de Emery-Dreifuss/metabolismo , Distrofia Muscular de Emery-Dreifuss/fisiopatologia , Proteínas Nucleares , Timopoietinas/deficiênciaRESUMO
Complex diagnosis of muscular dystrophies including clinical, bioptical and molecular genetic approaches has been provided in a limited extent in this country. Our group of neurologists, pathologists and geneticists has examined approximately 240 patients suspected of having muscular dystrophies, mostly coming from Southern and Northern Moravia. The patients were sent to the examination most often from departments of neurology and clinical genetics, and less frequently from departments of internal medicine. According to the final diagnosis, the patients were divided into groups: with dystrophinopathies and carriers of dystrophinopathies (DMD/BMD), merosin deficient form of congenital muscular dystrophy, and Emery-Dreifuss muscular dystrophy including the carriers of this disease. Some relatives of patients with dystrophinopathies were also examined using the methods of segregation analysis. High proportion of the DMD/BMD patients can be detected by the methods of molecular genetics. Analysis of mRNA using RT PCR and PTT enables the detection of deletions, duplications, and point mutations in dystrophin gene and encompasses a larger diagnostic scope in comparison with examinations of DNA level by the multiplex PCR method from the peripheral blood which enables only deletion detections. Immunophenotyping of the dystrophin protein plays an important role especially using antibodies against carboxyterminal (DYS2) and rod domain (DYS1) of dystrophin. Deficient sarcolemmal expression of DYS2 and DYS1 reveals unambiguously a pathological dystrophin. On the other hand, less pronounced deficiencies in dystrophin expression in BMD patients and DMD/BMD carriers may not always be detected in muscle biopsies. In this case, it is necessary to supplement the examination by Western blotting and genotype analysis. The examination of patients with clinically diagnosed muscular dystrophy should start with a muscle biopsy which enables the estimation of presence and degree of structural changes. Application of antibodies against the components of DGC and emerin may reveal a deficiency in expression of these proteins. Immunohistochemical examination completed by Western blotting leads to the subsequent molecular genetic analysis of DNA or mRNA. Secondary deficiencies in expression of other DGC proteins are often revealed in muscle biopsies of dystrophinopathies and this fact must be taken into account in the evaluation of immunohistochemical findings. There is a possibility of replacement of invasive muscle biopsy by skin biopsy or buccal mucosal smears in cases of merosin and emerin deficiencies. Commercially available antibodies against merosin, emerin, calpain and sarcoglycans enable extensive identification and detailed classification of muscular dystrophies. Screening of the patients based on the application of methods described and discussed in this report is the task of the forthcoming period.
Assuntos
Distrofina/genética , Distrofias Musculares/genética , Mutação , Adolescente , Adulto , Biópsia , Western Blotting , Criança , Pré-Escolar , Distrofina/análise , Feminino , Humanos , Imuno-Histoquímica , Hibridização in Situ Fluorescente , Lactente , Masculino , Músculo Esquelético/química , Músculo Esquelético/patologia , Distrofias Musculares/diagnóstico , Distrofias Musculares/metabolismo , Mutação Puntual , Reação em Cadeia da Polimerase , RNA Mensageiro/genética , Reação em Cadeia da Polimerase Via Transcriptase Reversa , Análise de Sequência de DNA , Deleção de SequênciaAssuntos
Vértebras Cervicais , Compressão da Medula Espinal/cirurgia , Compressão da Medula Espinal/terapia , Osteofitose Vertebral/cirurgia , Osteofitose Vertebral/terapia , Potencial Evocado Motor , Potenciais Somatossensoriais Evocados , Feminino , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Valor Preditivo dos Testes , Estudos Prospectivos , Sensibilidade e Especificidade , Compressão da Medula Espinal/diagnóstico , Osteofitose Vertebral/diagnóstico , Resultado do TratamentoRESUMO
A prospective randomised 2-year study was performed to compare the conservative and operative treatment of mild and moderate forms of spondylotic cervical myelopathy (SCM). Forty-eight patients presenting with the clinical syndrome of SCM, with a modified Japanese Orthopaedic Association (mJOA) score of 12 points or more, were randomised into two groups. Group A, treated conservatively, consisted of 27 patients, mean age 55.6 +/- 8.6 years, while group B was treated surgically (21 patients, mean age 52.7 +/- 8.1 years). The clinical outcome was measured by the mJOA score, recovery rate (RR), timed 10 m walk, score of daily activities (recorded by video and evaluated by two observers blinded to the therapy), and by the subjective assessment of the patients at 6, 12, and 24 months of the follow-up. There was, on average, no significant deterioration in mJOA score, recovery ratio, or timed 10 m walk within either group during the 2 years of follow-up. In the surgery group there was a slight decline in the scores for daily activities and subjective evaluation. A comparison of the two groups showed no significant differences in changes over time in mJOA score or quantified gait, but there were significant differences in the score of daily activities recorded by video at 24 months, which was a little lower in the surgical group, and also in RR and subjective evaluation, which were both worse in the surgical group at months 12 and 24. However, at month 6, this last parameter was significantly better in the surgical than in conservative group. Surgical treatment of mild and moderate forms of SCM in the present study design, comprising the patients with no or very slow, insidious progression and a relatively long duration of symptoms, did not show better results than conservative treatment over the 2-year follow-up.
Assuntos
Vértebras Cervicais/lesões , Vértebras Cervicais/cirurgia , Compressão da Medula Espinal/etiologia , Compressão da Medula Espinal/cirurgia , Osteofitose Vertebral/complicações , Osteofitose Vertebral/cirurgia , Anti-Inflamatórios não Esteroides/uso terapêutico , Braquetes , Vértebras Cervicais/diagnóstico por imagem , Avaliação da Deficiência , Progressão da Doença , Tolerância ao Exercício , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Complicações Pós-Operatórias/etiologia , Estudos Prospectivos , Radiografia , Recuperação de Função Fisiológica , Compressão da Medula Espinal/reabilitação , Osteofitose Vertebral/reabilitação , Resultado do TratamentoRESUMO
We studied the association between spondylotic cervical myelopathy (SCM) and median nerve mononeuropathy (MNM) and examined the validity of the double-crush hypothesis. Sixty consecutive patients with clinically overt spondylotic cervical myelopathy were examined by means of nerve conduction studies, electromyography, and median nerve somatosensory evoked potentials; the frequency of the electrophysiological signs of focal MNM at the wrist was compared with that of a control group comprising 100 sex- and age-matched patients. Electrophysiological signs of MNM were found in 20 myelopathic patients (33%) in comparison with an 11% prevalence in the control group (P<0.05). The signs of motor anterior horn cell lesion at the C8-Th1 level and concomitant motor axonal MNM ipsilaterally were found in three hands, while the signs of sensory axonal loss at C6-7 segments due to ganglionic or postganglionic sensory lesion outside the wrist and concomitant sensory axonal MNM were present in one hand. While demonstrating a statistically significant association between SCM and MNM, we found no evidence of an etiological relationship between these two conditions. Electrophysiological signs of MNM fail anatomical (segmental level and side) and pathophysiological (axonal type of lesion) requirements of the double-crush hypothesis in most of patients with concomitant SCM and MNM.
Assuntos
Vértebras Cervicais/patologia , Neuropatia Mediana/fisiopatologia , Síndromes de Compressão Nervosa/fisiopatologia , Compressão Nervosa , Osteofitose Vertebral/fisiopatologia , Adulto , Idoso , Estudos de Casos e Controles , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Condução NervosaRESUMO
STUDY DESIGN: A 2-year follow-up prospective randomized electrophysiologic and clinical study of patients with spondylotic cervical myelopathy. OBJECTIVE: To assess the value of somatosensory- and motor-evoked potentials in the evaluation and prediction of the effect of therapy. SUMMARY OF BACKGROUND DATA: Previous studies have yielded conflicting data concerning the correlation between the changes in evoked potential parameters and the clinical postsurgical outcome in spondylotic cervical myelopathy. METHODS: Sixty-one patients with magnetic resonance images suggesting spondylotic cervical cord compression and clinical signs of cervical myelopathy were divided into two groups according to the degree of clinical cervical cord involvement. The 49 patients with mild and moderate spondylotic cervical myelopathy were randomized into groups that underwent either surgical or conservative therapy. Patients were evaluated clinically and by the means of somatosensory- and motor-evoked potentials. RESULTS: The clinical and evoked potential changes showed good correlation on the group level, but poor correlation intraindividually. There were no significant evoked potential and clinical group changes after 6 months and 2 years in the mild myelopathy group treated either surgically and conservatively, whereas patients with severe myelopathy displayed significant improvement in clinical and evoked potential parameters after surgery. In a subgroup of patients, the isolated segmental medullar N13 abnormality could potentially predict favorable postsurgical clinical outcome. CONCLUSIONS: Longitudinal evoked potentials showed limited use for evaluating the results of therapy in an individual patient. They could be useful in the group assessment of therapy results and in labeling a subgroup of patients with potentially favorable postsurgical outcome.
Assuntos
Vértebras Cervicais , Potencial Evocado Motor , Potenciais Somatossensoriais Evocados , Compressão da Medula Espinal/diagnóstico , Osteofitose Vertebral/complicações , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Valor Preditivo dos Testes , Estudos Prospectivos , Compressão da Medula Espinal/terapiaRESUMO
Previous studies have yielded conflicting data concerning the value of evoked potential parameters in the assessment of clinical relevance of cervical cord compression in clinically "silent" cases. The aim of this study was to assess the value of somatosensory (SEP) and motor evoked potentials (MEP) in the evaluation and prediction of the clinical course, by means of a 2-year follow-up prospective electrophysiological and clinical study performed in patients with clinically "silent" spondylotic cervical cord compression. Thirty patients with MR signs of spondylotic cervical cord compression but without clinical signs of myelopathy were evaluated clinically and using SEPs and MEPs during a 2-year period. The results of the study showed that SEPs and MEPs documented subclinical involvement of cervical cord in 50% of patients with clinically "silent" spondylotic cervical cord compression. During the 2-year period clinical signs of cervical myelopathy were observed in one-third of patients with entry EP abnormality in comparison with no patients with normal EP tests. Combined SEPs and MEPs proved to be a valuable tool in the assessment of the functional relevance of subclinical spondylotic cervical cord compression. Normal EP findings predict a favourable 2-year clinical outcome.
Assuntos
Vértebras Cervicais , Potencial Evocado Motor , Potenciais Somatossensoriais Evocados , Compressão da Medula Espinal/diagnóstico , Osteofitose Vertebral/complicações , Estudos de Casos e Controles , Eletromiografia , Feminino , Seguimentos , Humanos , Masculino , Estudos Prospectivos , Sensibilidade e Especificidade , Compressão da Medula Espinal/etiologia , Compressão da Medula Espinal/fisiopatologia , Fatores de TempoRESUMO
The authors investigated the state of surgery on account of cervical spondylosis and in particular spondylogenic cervical myelopathy in the Czech and Slovak Republic in 1994. They assessed the number of operated patients, surgical methods, indication criteria and the diagnostic strategy of different departments. The total number of patients operated on account of cervical spondylosis in 1994 was 347, incl. 113 on account of cervical spondylogenic myelopathy. As to surgical techniques in the majority the anterior approach was selected (Smith-Robinson's method). Laminectomy was performed in 14 and laminoplasty in 22 cases. The number of operated patients is, as compared with the frequency of similar operations in the United States, six times lower. As all departments where enquiries were made operate every cervical compression regardless of the degree of functional deficiency, this may reflect inadequate diagnosis of the disease.
Assuntos
Vértebras Cervicais/cirurgia , Osteofitose Vertebral/cirurgia , República Tcheca/epidemiologia , Humanos , Laminectomia/métodos , Laminectomia/estatística & dados numéricos , Pessoa de Meia-Idade , Eslováquia/epidemiologia , Fusão Vertebral/métodos , Fusão Vertebral/estatística & dados numéricos , Osteofitose Vertebral/epidemiologiaRESUMO
New complaints of patients after poliomyelitis following after decades of a stabilized condition are described by the term postpoliomyelitic syndrome (PPS). They affect at least half the patients after poliomyelitis. The best defined picture from a broad spectrum of new complaints is so-called progressive postpoliomyelitic atrophy (PPMA). The authors review contemporary knowledge of the etiopathogenesis of PPS and PPMA and their possible therapy.
Assuntos
Síndrome Pós-Poliomielite , Humanos , Síndrome Pós-Poliomielite/diagnóstico , Síndrome Pós-Poliomielite/terapiaRESUMO
Neurophysiological tests that asses afferent or efferent pathways of the spinal cord and of nerve roots are used for clinical diagnosis, intraoperative monitoring, and judgement of prognosis. Most tests can readily be performed in awake subjects, whereas many difficulties arise in anesthetized patients in whom neurophysiological testing is the only way of monitoring functional integrity of neural tissue. The research, therefore, that has been carried out in this field during the past year is of special interest.
Assuntos
Cauda Equina/fisiopatologia , Neoplasias do Sistema Nervoso Periférico/fisiopatologia , Doenças da Medula Espinal/fisiopatologia , Transmissão Sináptica/fisiologia , Cauda Equina/cirurgia , Potenciais Evocados/fisiologia , Humanos , Monitorização Intraoperatória , Exame Neurológico , Neoplasias do Sistema Nervoso Periférico/diagnóstico , Neoplasias do Sistema Nervoso Periférico/cirurgia , Medula Espinal/fisiopatologia , Doenças da Medula Espinal/diagnóstico , Doenças da Medula Espinal/cirurgiaRESUMO
The authors made 38 examinations of the somatosensory evoked potentials of the median nerve (SEP) in 28 patients in the acute stage of focal cerebral ischaemia (20 men, 8 women mean age 62 years; range 28-81). According to the clinical and CT picture the patients were divided into two groups: affections in the carotid vessels (22 patients) and in the vertebrobasilar vessels (6 patients). The investigated parameters comprised the so-called central conduction time (interval N13-N19) and amplitude N19/P22. The highest incidence of abnormalities was in the group of vertebrobasilar ischaemias (83%), while in the group of ischamias in the carotid vessels it amounted only to 50%. In both the central conduction time as well as amplitude N19/P22 were effected. In the group of focal ischaemias the authors did not find a close correlation between the carotid circulation and the sensory deficit, but recorded a correlation between the affection of SEP and the resultant condition: in patients without SEP abnormalities complete restoration of the condition predominated (63%), while in the group with pathological findings during the SEP examination complete restoration was recorded only in 9%. Repeated (dynamic) evaluations and the relationship between the ischaemic focus and the somatosensory pathway are important.