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1.
Muscle Nerve ; 51(1): 24-9, 2015 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-24777666

RESUMO

INTRODUCTION: We investigated whether muscle ultrasound can distinguish muscles affected by post-polio syndrome (PPS) from healthy muscles and whether severity of ultrasound abnormalities is associated with muscle strength. METHODS: Echo intensity, muscle thickness, and isometric strength of the quadriceps muscles were measured in 48 patients with PPS and 12 healthy controls. RESULTS: Patients with PPS had significantly higher echo intensity and lower muscle thickness than healthy controls. In patients, both echo intensity and muscle thickness were associated independently with muscle strength. A combined measure of echo intensity and muscle thickness was more strongly related to muscle strength than either parameter alone. CONCLUSIONS: Quantitative ultrasound distinguishes healthy muscles from those affected by PPS, and measures of muscle quality and quantity are associated with muscle strength. Hence, ultrasound could be a useful tool for assessing disease severity and monitoring changes resulting from disease progression or clinical intervention in patients with PPS.


Assuntos
Força Muscular/fisiologia , Poliomielite/patologia , Músculo Quadríceps/diagnóstico por imagem , Músculo Quadríceps/fisiopatologia , Idoso , Estudos de Casos e Controles , Estudos de Coortes , Estudos Transversais , Feminino , Humanos , Modelos Lineares , Masculino , Pessoa de Meia-Idade , Contração Muscular/fisiologia , Músculo Quadríceps/patologia , Ultrassonografia
2.
Muscle Nerve ; 48(5): 733-8, 2013 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-23424061

RESUMO

INTRODUCTION: Excitotoxicity plays an important role in the pathogenesis of the preferential motor neuron death observed in amyotrophic lateral sclerosis (ALS). Continuous theta burst stimulation (cTBS) by transcranial magnetic stimulation has an inhibitory effect on corticospinal excitability (CSE). We characterized the neurophysiological changes induced by cTBS in ALS. METHODS: The patients received 5 daily sessions of cTBS. CSE was assessed at baseline and after each session of cTBS. RESULTS: The amplitude of a single pulse motor evoked potential was significantly decreased (34%) over the days. The amplitude returned to baseline a week after the last session. The resting motor threshold increased significantly, whereas intracortical inhibition and facilitation did not change over the sessions. CONCLUSIONS: Daily cTBS has a cumulative depressing effect on CSE in patients with ALS. These results suggest that modulation of CSE in ALS is possible, but repetitive sessions are needed to maintain the effect.


Assuntos
Esclerose Lateral Amiotrófica/fisiopatologia , Esclerose Lateral Amiotrófica/terapia , Córtex Cerebral/fisiopatologia , Tratos Piramidais/fisiopatologia , Ritmo Teta/fisiologia , Estimulação Magnética Transcraniana/métodos , Esclerose Lateral Amiotrófica/patologia , Córtex Cerebral/patologia , Eletromiografia , Potencial Evocado Motor/fisiologia , Humanos , Masculino , Pessoa de Meia-Idade , Inibição Neural/fisiologia , Tratos Piramidais/patologia , Limiar Sensorial/fisiologia , Estimulação Magnética Transcraniana/instrumentação , Resultado do Tratamento
3.
BMC Cancer ; 12: 256, 2012 Jun 18.
Artigo em Inglês | MEDLINE | ID: mdl-22708881

RESUMO

BACKGROUND: Postcancer fatigue is a frequently occurring, severe, and invalidating problem, impairing quality of life. Although it is possible to effectively treat postcancer fatigue with cognitive behaviour therapy, the nature of the underlying (neuro)physiology of postcancer fatigue remains unclear. Physiological aspects of fatigue include peripheral fatigue, originating in muscle or the neuromuscular junction; central fatigue, originating in nerves, spinal cord, and brain; and physical deconditioning, resulting from a decreased cardiopulmonary function. Studies on physiological aspects of postcancer fatigue mainly concentrate on deconditioning. Peripheral and central fatigue and brain morphology and function have been studied for patients with fatigue in the context of chronic fatigue syndrome and neuromuscular diseases and show several characteristic differences with healthy controls. METHODS/DESIGN: Fifty seven severely fatigued and 21 non-fatigued cancer survivors will be recruited from the Radboud University Nijmegen Medical Centre. Participants should have completed treatment of a malignant, solid tumour minimal one year earlier and should have no evidence of disease recurrence. Severely fatigued patients are randomly assigned to either the intervention condition (cognitive behaviour therapy) or the waiting list condition (start cognitive behaviour therapy after 6 months). All participants are assessed at baseline and the severely fatigued patients also after 6 months follow-up (at the end of cognitive behaviour therapy or waiting list). Primary outcome measures are fatigue severity, central and peripheral fatigue, brain morphology and function, and physical condition and activity. DISCUSSION: This study will be the first randomized controlled trial that characterizes (neuro)physiological factors of fatigue in disease-free cancer survivors and evaluates to which extent these factors can be influenced by cognitive behaviour therapy. The results of this study are not only essential for a theoretical understanding of this invalidating condition, but also for providing an objective biological marker for fatigue that could support the diagnosis and follow-up of treatment. TRIAL REGISTRATION: The study is registered at http://ClinicalTrials.gov (NCT01096641).


Assuntos
Protocolos Clínicos , Fadiga/etiologia , Fadiga/fisiopatologia , Neoplasias/complicações , Terapia Cognitivo-Comportamental , Fadiga/terapia , Humanos , Projetos de Pesquisa , Sobreviventes , Resultado do Tratamento
4.
Muscle Nerve ; 46(5): 738-45, 2012 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-23055314

RESUMO

INTRODUCTION: Fibromyalgia (FM) is a disorder of widespread muscular pain. We investigated possible differences in surface electromyography (sEMG) in clinically unaffected muscle between patients with FM and controls. METHODS: sEMG was performed on the biceps brachii muscle of 13 women with FM and 14 matched healthy controls during prolonged dynamic exercises, unloaded, and loaded up to 20% of maximum voluntary contraction. The sEMG parameters were: muscle fiber conduction velocity (CV); skewness of motor unit potential (peak) velocities; peak frequency (PF) (number of peaks per second); and average rectified voltage (ARV). RESULTS: There was significantly higher CV in the FM group. Although the FM group performed the tests equally well, their electromyographic fatigue was significantly less expressed compared with controls (in CV, PF, and ARV). CONCLUSION: In the patients with FM, we clearly showed functional abnormalities of the muscle membrane, which led to high conduction velocity and resistance to fatigue in electromyography.


Assuntos
Eletromiografia/métodos , Fadiga/epidemiologia , Fadiga/fisiopatologia , Fibromialgia/epidemiologia , Fibromialgia/fisiopatologia , Fibras Musculares Esqueléticas/fisiologia , Adulto , Fadiga/diagnóstico , Feminino , Fibromialgia/diagnóstico , Humanos , Pessoa de Meia-Idade , Fibras Musculares Esqueléticas/patologia
5.
Clin Exp Rheumatol ; 30(6 Suppl 74): 44-50, 2012.
Artigo em Inglês | MEDLINE | ID: mdl-23191983

RESUMO

OBJECTIVES: Fibromyalgia (FM) is a disorder characterised by chronic widespread pain in soft tissues, especially in muscles. Previous research has demonstrated a higher muscle fibre conduction velocity (CV) in painful muscles of FM patients. The primary goal of this study was to investigate whether there is also a difference in CV in non-painful, non-tender point (TP) related muscles between FM patients and controls. The secondary goal was to explore associations between the CV, the number of TPs and the complaints in FM. METHODS: Surface electromyography (sEMG) was performed on the biceps brachii muscle of female FM patients (13) and matched healthy controls (13). Short static contractions were applied with the arm unloaded and loaded at 5% and 10% of maximum voluntary force. The CV was derived by cross-correlation method (CV-cc) and inter-peak latency method (CV-ipl). TP score and Fibromyalgia Impact Questionnaire (FIQ) were performed in all participants. Correlations were calculated between the CVs, TP score and items of the FIQ. RESULTS: In FM patients, the CV was higher than in the controls (CV-cc p=0.005; CV-ipl p=0.022). The CV was correlated with the number of TPs in FM patients (r=0.642 and 0.672 for CV-cc and CV-ipl, respectively). No correlations were found between the CV and any aspect of health status on the FIQ. CONCLUSIONS: The results demonstrate abnormally high muscle membrane conduction velocity in FM, even in non-TP muscles. In addition, a relationship has been found between the high membrane velocity and the number of TPs.


Assuntos
Dor Crônica/fisiopatologia , Fibromialgia/fisiopatologia , Músculo Esquelético/fisiopatologia , Sarcolema/metabolismo , Adulto , Estudos de Casos e Controles , Dor Crônica/diagnóstico , Dor Crônica/metabolismo , Eletromiografia , Feminino , Fibromialgia/diagnóstico , Fibromialgia/metabolismo , Humanos , Potenciais da Membrana , Pessoa de Meia-Idade , Contração Muscular , Fibras Musculares Esqueléticas/metabolismo , Músculo Esquelético/inervação , Músculo Esquelético/metabolismo , Medição da Dor , Limiar da Dor , Tempo de Reação , Inquéritos e Questionários , Extremidade Superior
6.
J Neurol Neurosurg Psychiatry ; 82(5): 552-4, 2011 May.
Artigo em Inglês | MEDLINE | ID: mdl-20392981

RESUMO

The authors assessed the prognostic value of muscle ultrasonography in 31 patients with amyotrophic lateral sclerosis (ALS) and compared it with accepted prognostic variables like functional capacity (measured with the Amyotrophic Lateral Sclerosis Functional Rating Scale (ALSFRS)) and muscle strength. Each patient was examined once. The following ultrasonography parameters were determined: muscle thickness, echo intensity (EI) and the presence of fasciculations. Correlations between baseline measurements, preslope values and survival were calculated. EI, disease duration, muscle strength preslope and ALSFRS-R preslope correlated with survival. Using a stepwise multivariate analysis, the combination of EI preslope and ALSFRS-R preslope was shown to have the best predictive value for survival.


Assuntos
Esclerose Lateral Amiotrófica/diagnóstico por imagem , Músculo Esquelético/diagnóstico por imagem , Adulto , Idoso , Idoso de 80 Anos ou mais , Esclerose Lateral Amiotrófica/diagnóstico , Esclerose Lateral Amiotrófica/mortalidade , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Força Muscular , Valor Preditivo dos Testes , Prognóstico , Índice de Gravidade de Doença , Ultrassonografia
7.
Mov Disord ; 26(9): 1670-6, 2011 Aug 01.
Artigo em Inglês | MEDLINE | ID: mdl-21484876

RESUMO

Drooling is an incapacitating feature of Parkinson's disease. Better pathophysiological insights are needed to improve treatment. In this study, we tested the hypothesis that the cause of drooling is multifactorial. We examined 15 patients with Parkinson's disease with distinct diurnal saliva loss ("droolers") and 15 patients with Parkinson's disease without drooling complaints ("nondroolers"). We evaluated all factors that could potentially contribute to drooling: swallowing capacity (maximum volume), functional swallowing (assessed with the dysphagia subscale of the Therapy Outcome Measures for rehabilitation specialists), unintentional mouth opening due to hypomimia (Unified Parkinson's Disease Rating Scale item), posture (quantified from sagittal photographs), and nose-breathing ability. We also quantified the frequency of spontaneous swallowing during 45 minutes of quiet sitting, using polygraphy. Droolers had more advanced Parkinson's disease than nondroolers (Unified Parkinson's Disease Rating Scale motor score 31 vs 22; P=.014). Droolers also scored significantly worse on all recorded variables except for nose breathing. Swallowing frequency tended to be higher, possibly to compensate for less efficient swallowing. Logistic regression with adjustment for age and disease severity showed that hypomimia correlated best with drooling. Linear regression with hypomimia as the dependent variable identified disease severity, dysphagia, and male sex as significant explanatory factors. Drooling in Parkinson's disease results from multiple risk factors, with hypomimia being the most prominent. When monitored, patients appear to compensate by increasing their swallowing frequency, much like the increased cadence that is used to compensate for stepping akinesia. These findings can provide a rationale for behavioral approaches to treat drooling.


Assuntos
Ritmo Circadiano/fisiologia , Doença de Parkinson/complicações , Sialorreia/etiologia , Idoso , Idoso de 80 Anos ou mais , Deglutição/fisiologia , Eletromiografia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Índice de Gravidade de Doença , Sialorreia/reabilitação
8.
Muscle Nerve ; 43(2): 178-82, 2011 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-21254081

RESUMO

We prospectively investigated the diagnostic accuracy and potential pitfalls of dynamic muscle ultrasound in the detection of fibrillations. The presence of fibrillations on both electromyography (EMG) and ultrasound was evaluated in 102 muscles of 38 patients with suspected fibrillation potentials, based on history and physical examination. Sensitivity and specificity were calculated. False-positive and false-negative results are described to identify pitfalls. Ultrasound detected fibrillations with a sensitivity of 45% and a specificity of 66%. Specificity improved to 85% when measurements were evaluated online. Proximal muscles showed higher sensitivities (63%) than distal muscles (33%). Ultrasound currently has a poor sensitivity and moderate specificity for detecting fibrillations. Several pitfalls were identified that, when avoided, could help improve diagnostic accuracy. Ensuring a distal limb temperature of at least 34°C and identifying external movement artifacts as well as voluntary contractions can improve efficacy and open the way for diagnostic application of this technique.


Assuntos
Músculo Esquelético/diagnóstico por imagem , Doenças do Sistema Nervoso Periférico/diagnóstico por imagem , Doenças do Sistema Nervoso Periférico/patologia , Adulto , Idoso , Idoso de 80 Anos ou mais , Eletromiografia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Estudos Retrospectivos , Sensibilidade e Especificidade , Estatística como Assunto , Ultrassonografia , Adulto Jovem
9.
Muscle Nerve ; 44(1): 109-14, 2011 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-21674525

RESUMO

INTRODUCTION: Amyotrophic lateral sclerosis (ALS) is a progressive disease caused by the degeneration of upper and lower motor neurons. The etiology of ALS is unclear, but there is evidence that loss of cortical inhibition could be related to motor neuron degeneration. We sought to determine whether cathodal transcranial direct current stimulation (tDCS) can reduce cortical excitability in patients with ALS. METHODS: Three sessions of cathodal tDCS, lasting 7, 11, or 15 minutes, were performed in 10 patients and 10 healthy controls. Corticospinal excitability was measured before and after the tDCS. RESULTS: Cathodal tDCS induced a consistent decrease in corticospinal excitability in healthy controls, but not in ALS patients. CONCLUSIONS: The failure of tDCS to produce an excitability shift in the patients supports the potential diagnostic value of tDCS as a marker of upper motor neuron involvement. However, variation in corticospinal excitability measurements both inter- and intraindividually will limit its usefulness.


Assuntos
Esclerose Lateral Amiotrófica/diagnóstico , Esclerose Lateral Amiotrófica/fisiopatologia , Potencial Evocado Motor/fisiologia , Córtex Motor/fisiologia , Estimulação Magnética Transcraniana , Esclerose Lateral Amiotrófica/terapia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estimulação Magnética Transcraniana/métodos
10.
BMC Neurol ; 11: 29, 2011 Feb 28.
Artigo em Inglês | MEDLINE | ID: mdl-21356112

RESUMO

BACKGROUND: Cerebral small vessel disease (SVD) is a frequent finding on CT and MRI scans of elderly people and is related to vascular risk factors and cognitive and motor impairment, ultimately leading to dementia or parkinsonism in some. In general, the relations are weak, and not all subjects with SVD become demented or get parkinsonism. This might be explained by the diversity of underlying pathology of both white matter lesions (WML) and the normal appearing white matter (NAWM). Both cannot be properly appreciated with conventional MRI. Diffusion tensor imaging (DTI) provides alternative information on microstructural white matter integrity. The association between SVD, its microstructural integrity, and incident dementia and parkinsonism has never been investigated. METHODS/DESIGN: The RUN DMC study is a prospective cohort study on the risk factors and cognitive and motor consequences of brain changes among 503 non-demented elderly, aged between 50-85 years, with cerebral SVD. First follow up is being prepared for July 2011. Participants alive will be included and invited to the research centre to undergo a structured questionnaire on demographics and vascular risk factors, and a cognitive, and motor, assessment, followed by a MRI protocol including conventional MRI, DTI and resting state fMRI. DISCUSSION: The follow up of the RUN DMC study has the potential to further unravel the causes and possibly better predict the consequences of changes in white matter integrity in elderly with SVD by using relatively new imaging techniques. When proven, these changes might function as a surrogate endpoint for cognitive and motor function in future therapeutic trials. Our data could furthermore provide a better understanding of the pathophysiology of cognitive and motor disturbances in elderly with SVD. The execution and completion of the follow up of our study might ultimately unravel the role of SVD on the microstructural integrity of the white matter in the transition from "normal" aging to cognitive and motor decline and impairment and eventually to incident dementia and parkinsonism.


Assuntos
Encéfalo/patologia , Encéfalo/fisiopatologia , Transtornos Cerebrovasculares/patologia , Transtornos Cerebrovasculares/fisiopatologia , Protocolos Clínicos , Progressão da Doença , Avaliação Geriátrica/métodos , Idoso , Idoso de 80 Anos ou mais , Encéfalo/irrigação sanguínea , Transtornos Cerebrovasculares/complicações , Demência/complicações , Imagem de Tensor de Difusão/métodos , Feminino , Humanos , Imageamento por Ressonância Magnética/métodos , Masculino , Pessoa de Meia-Idade , Fibras Nervosas Mielinizadas/patologia , Transtornos Parkinsonianos/complicações , Estudos Prospectivos , Fatores de Risco
11.
Arch Phys Med Rehabil ; 92(7): 1152-8, 2011 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-21704797

RESUMO

OBJECTIVE: To report on the development and psychometric evaluation of the Radboud Oral Motor Inventory for Parkinson's Disease (ROMP), a newly developed patient-rated assessment of speech, swallowing, and saliva control in patients with Parkinson's disease (PD). DESIGN: Reliability and validity study. SETTING: Tertiary-care Parkinson center for multidisciplinary assessment. PARTICIPANTS: Consecutive community-dwelling patients with PD (n=129) or atypical parkinsonism (AP; n=49; mean ± SD age, 64±9.8y; mean ± SD disease duration, 7y; median Hoehn and Yahr [HY] stage, 2.5). INTERVENTIONS: Not applicable. MAIN OUTCOME MEASURES: To evaluate reproducibility, 60 patients completed the ROMP twice within a mean of 24±12 days. To study validity, another cohort of 118 patients who had completed the ROMP was assessed by both a neurologist (HY stage, Unified Parkinson's Disease Rating Scale III) and speech-language pathologist (severity of dysarthria, dysphagia, drooling) who were blinded to ROMP scores. RESULTS: Confirmatory factor analysis identified the 3 a priori-designed ROMP domains of speech, swallowing, and saliva control. Internal consistency was .95 for the total ROMP and .87 to .94 for the 3 domains or subscales. Intraclass correlation coefficients for reproducibility were .94 and .83 to .92 for the subscales. Construct validity was substantial to good with correlations ranging from .36 to .82. The ROMP differentiated significantly (P<.001) between patients indicated for speech therapy (based on independent assessment) and those who were not and between mild, moderate, and severe PD according to HY stage. CONCLUSIONS: The ROMP provides a reliable and valid instrument to evaluate patient-perceived problems with speech, swallowing, and saliva control in patients with PD or AP.


Assuntos
Transtornos de Deglutição/psicologia , Disartria/psicologia , Doença de Parkinson/psicologia , Índice de Gravidade de Doença , Sialorreia/psicologia , Inquéritos e Questionários , Idoso , Transtornos de Deglutição/etiologia , Disartria/etiologia , Análise Fatorial , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Doença de Parkinson/complicações , Psicometria , Reprodutibilidade dos Testes , Autorrelato , Sialorreia/etiologia
12.
Epileptic Disord ; 13(2): 185-7, 2011 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-21561838

RESUMO

Malignant migrating partial seizures in infancy is an epilepsy syndrome characterised by an onset before the age of six months, multifocal seizures and an EEG pattern consisting of seizures which occur independently and sequentially from both hemispheres. The clinical course of a four-month-old boy with this syndrome, illustrated by video material of the seizures and EEG recordings, is described. The possible neurophysiological mechanism of epileptogenic activity alternating or 'migrating' from one hemisphere to the other is discussed.


Assuntos
Encéfalo/fisiopatologia , Epilepsias Parciais/fisiopatologia , Convulsões/fisiopatologia , Eletroencefalografia , Humanos , Lactente , Masculino
13.
PLoS One ; 16(2): e0246051, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-33539459

RESUMO

OBJECTIVE: Several epidemiological and clinical reports associate fibromyalgia (FM) with seizure disorders, and clinical studies associate FM diagnosis with psychogenic non-epileptic seizures. However, these associations rely on self-reports of being diagnosed with FM or unstandardized clinical diagnosis in combination with small samples. We investigated the association of FM and self-reported seizures using a large rheumatic disease databank and the current established self-reported, symptom-based FM diagnostic criteria. METHODS: We selected a random observation from 11,378 subjects with rheumatoid arthritis (RA), 2,390 (21.0%) of whom satisfied 2016 revised criteria for FM. Patients were inquired about the presence of any kind of seizures in the previous 6 months, anti-epileptic medications, and patient-reported symptoms and outcomes. RESULTS: Seizures were reported by 89 RA patients who met FM criteria (FM+) and by 97 patients who did not (FM-), resulting in an age- and sex-adjusted seizure prevalence of 3.74 (95% CI 2.95 to 4.53) per 100 FM+ subjects and 1.08 (95% CI 0.87 to 1.30) in FM- subjects. The seizure odds ratio of FM+ to FM- cases was 3.54 (95% CI 2.65 to 4.74). Seizures were associated to a very similar degree with symptom reporting (somatic symptom count and comorbidity index) as to FM diagnosis variables. RA patients reporting seizures also reported worse pain, quality of life, and functional status. Seizure patients treated with anti-seizure medication had worse outcomes and more comorbidities than seizure patients with no seizure drugs. CONCLUSIONS: We found a significant and similar association of both FM diagnostic variables and FM-related symptom variables, including the number of symptoms and comorbidities, with self-reported seizures in people with RA. The observed association was similar to those found in previous studies of symptoms variables and seizures and does not suggest a unique role for fibromyalgia diagnosis. Rather, it suggests that multi-symptom comorbidity is linked to seizures in a complex and not yet clearly understood way. As the current study relied on self-reported seizures and was not able to distinguish between epileptic and psychogenic nonepileptic seizures, future studies are needed to replicate the findings using both validated FM criteria assessments and clinically verified diagnoses of epileptic and psychogenic seizures.


Assuntos
Artrite Reumatoide/epidemiologia , Epilepsia/epidemiologia , Fibromialgia/epidemiologia , Comorbidade , Nível de Saúde , Humanos , Estudos Longitudinais , Masculino , Medidas de Resultados Relatados pelo Paciente , Prevalência , Qualidade de Vida , Autorrelato , Inquéritos e Questionários
14.
Ann Neurol ; 65(6): 687-97, 2009 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-19557868

RESUMO

OBJECTIVE: Ehlers-Danlos syndrome (EDS) is a clinically and genetically heterogeneous group of heritable connective tissue disorders characterized by joint hypermobility, skin hyperextensibility, and tissue fragility. Muscle involvement is plausible based on recently discovered interactions between muscle cells and extracellular matrix molecules; however, muscle symptoms are only sporadically reported. We designed a cross-sectional study to find out whether neuromuscular features are part of EDS. METHODS: Standardized questionnaires, physical examination, nerve conduction studies, electromyography, muscle ultrasound, and muscle biopsy were performed in 40 EDS patients with the vascular, classic, tenascin-X (TNX)-deficient type EDS, and hypermobility type of EDS caused by TNXB haploinsufficiency. RESULTS: Muscle weakness, myalgia, and easy fatigability were reported by the majority of patients. Mild-to-moderate muscle weakness (85%) and reduction of vibration sense (60%) were common. Nerve conduction studies demonstrated axonal polyneuropathy in five patients (13%). Needle electromyography myopathic features in nine patients (26%) and a mixed neurogenic-myopathic pattern in most (60%). Muscle ultrasound showed increased echo-intensity (48%) and atrophy (50%). Mild myopathic features were seen on muscle biopsy of five patients (28%). Overall, patients with the hypermobility type EDS caused by TNXB haploinsufficiency were least affected. INTERPRETATION: Mild-to-moderate neuromuscular involvement is common in various types of EDS, with a remarkable relation between residual TNX level and degree of neuromuscular involvement, compatible with a dose-effect relation. The findings of this study should increase awareness of neuromuscular symptoms in EDS patients and improve clinical care. They also point to a role of the extracellular matrix in muscle and peripheral nerve function.


Assuntos
Síndrome de Ehlers-Danlos/classificação , Síndrome de Ehlers-Danlos/fisiopatologia , Músculo Esquelético/patologia , Junção Neuromuscular/patologia , Adolescente , Adulto , Estudos Transversais , Síndrome de Ehlers-Danlos/diagnóstico , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Contração Muscular/fisiologia , Debilidade Muscular/patologia , Músculo Esquelético/fisiologia , Condução Nervosa/fisiologia , Junção Neuromuscular/fisiologia , Inquéritos e Questionários , Adulto Jovem
15.
Muscle Nerve ; 41(1): 32-41, 2010 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-19722256

RESUMO

Ultrasonography can detect structural muscle changes caused by neuromuscular disease. Quantitative analysis is the preferred method to determine if ultrasound findings are within normal limits, but normative data are incomplete. The purpose of this study was to provide normative muscle ultrasonography data for muscle thickness and echo intensity for five different muscle groups in adults. Bilateral scans of the sternocleidomastoid, biceps brachii/brachialis, forearm flexor group, quadriceps femoris, and tibialis anterior were made in 95 volunteers, aged 17-90 years. Both muscle thickness and echo intensity showed gender differences and a muscle-specific non-linear correlation with age. The muscles of the upper extremities showed right-left differences. These data demonstrate the effect of age on muscle characteristics and provide normative values that can be used in clinical practice.


Assuntos
Envelhecimento/fisiologia , Músculo Esquelético/diagnóstico por imagem , Adolescente , Adulto , Fatores Etários , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Curva ROC , Valores de Referência , Fatores Sexuais , Ultrassonografia , Adulto Jovem
16.
Muscle Nerve ; 42(2): 239-44, 2010 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-20544934

RESUMO

In amyotrophic lateral sclerosis (ALS), progressive motor neuron loss causes severe weakness. Functional measurements tend to underestimate the underlying pathology because of collateral reinnervation. A more direct marker of lower motor neuron loss is of significant importance. We evaluated high-density motor unit number estimation (MUNE), as compared with the ALS Functional Rating Scale (ALSFRS) and maximal compound muscle action potential (CMAP) amplitude, for monitoring and classifying disease progression. MUNE showed good reproducibility (intraclass correlation coefficient = 0.86). MUNE showed a significantly greater decrease than the ALSFRS, the Medical Research Council (MRC) scale, and CMAP amplitude. Patients could be stratified into groups with rapidly or slowly progressive disease based on a decrement in MUNE at 4 months from baseline; ALSFRS score at 8 months was significantly lower in the rapidly progressive group. MUNE was sensitive to motor neuron loss early in the disease course when compared to other clinical measures. Stratification of patients based on a decrease in MUNE seems feasible.


Assuntos
Esclerose Lateral Amiotrófica/patologia , Progressão da Doença , Neurônios Motores/patologia , Potenciais de Ação/fisiologia , Adulto , Idoso , Esclerose Lateral Amiotrófica/fisiopatologia , Estimulação Elétrica , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Neurônios Motores/fisiologia , Força Muscular/fisiologia , Músculo Esquelético/inervação , Músculo Esquelético/patologia , Degeneração Neural/patologia , Degeneração Neural/fisiopatologia
17.
Amyotroph Lateral Scler ; 11(6): 497-501, 2010 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-20536375

RESUMO

The Awaji Commission recently proposed a modification of the electrodiagnostic criteria for ALS. We assessed whether the Awaji recommendations improve the sensitivity of the early diagnosis of ALS. In a retrospective study we reviewed clinical and neurophysiological data for 213 patients who visited our motor neuron disease outpatient clinic between October 2006 and December 2008. Using the El Escorial criteria, 51 patients were diagnosed with definite or probable ALS, 14 with probable laboratory-supported ALS, and 28 with possible ALS. An alternative diagnosis was present in 120 patients. Applying the Awaji recommendations, 66 patients were diagnosed with either definite or probable ALS, and 27 with possible ALS. Of the 14 patients diagnosed with probable laboratory-supported ALS, eight switched to probable ALS and six to possible ALS using the Awaji recommendations; none of the patients with an ALS mimic was diagnosed with ALS according to the Awaji recommendations. In conclusion, the new criteria for ALS do not result in a loss of specificity and can potentially improve the sensitivity by 16%. However, this diagnostic improvement appears eliminated if patients with probable laboratory-supported ALS - due to UMN signs in one region - should be categorized as possible ALS.


Assuntos
Esclerose Lateral Amiotrófica/diagnóstico , Esclerose Lateral Amiotrófica/fisiopatologia , Eletromiografia/normas , Guias como Assunto , Sensibilidade e Especificidade , Humanos , Condução Nervosa , Estudos Retrospectivos
18.
Amyotroph Lateral Scler ; 11(1-2): 67-75, 2010.
Artigo em Inglês | MEDLINE | ID: mdl-19714538

RESUMO

OBJECTIVE: To evaluate the diagnostic yield of magnetic cortical stimulation with the triple stimulation technique (TST) to identify upper motor neuron (UMN) involvement in patients suspected of having ALS. METHODS: Fifty-nine patients were recruited to undergo TST in addition to the standard work-up for suspected motor neuron disease. TST combines transcranial magnetic stimulation of the motor cortex with collision studies, which results in a higher sensitivity in detecting UMN involvement. Primary outcome was the number of abnormal TST results in patients with possible ALS. The positivity rate was converted to the number needed to test with TST (NN-TST) for one extra diagnosis of ALS. RESULTS: Fifty patients underwent TST. In the total group (n=59), 18 patients had a motor neuron disorder but did not fulfil criteria for 'probable' or 'definite' ALS. In four of these patients TST was abnormal (NN-TST, 4.5). One TST was erroneously interpreted as abnormal. TST findings were normal in inclusion body myositis and peripheral nerve disorders. CONCLUSION: This prospective and blind study confirms open studies of TST in the evaluation of ALS. We suggest that TST can be used to arrive at a diagnosis of 'probable' or 'definite' ALS in patients lacking UMN signs in the upper extremities.


Assuntos
Esclerose Lateral Amiotrófica/diagnóstico , Esclerose Lateral Amiotrófica/fisiopatologia , Eletromiografia/métodos , Córtex Motor/fisiopatologia , Estimulação Magnética Transcraniana/métodos , Potenciais de Ação , Adulto , Idoso , Idoso de 80 Anos ou mais , Artefatos , Plexo Braquial/fisiologia , Diagnóstico Diferencial , Método Duplo-Cego , Humanos , Pessoa de Meia-Idade , Neurônios Motores/fisiologia , Miosite de Corpos de Inclusão/diagnóstico , Miosite de Corpos de Inclusão/fisiopatologia , Doenças do Sistema Nervoso Periférico/diagnóstico , Doenças do Sistema Nervoso Periférico/fisiopatologia , Estudos Prospectivos , Sensibilidade e Especificidade , Nervo Ulnar/fisiologia , Adulto Jovem
19.
Amyotroph Lateral Scler ; 11(1-2): 181-6, 2010.
Artigo em Inglês | MEDLINE | ID: mdl-19533451

RESUMO

Our objective was to determine the prevalence and distribution of fasciculations in healthy adults and to assess the effect of age, caffeine and exercise. Fasciculations were studied with ultrasonography in 58 healthy adults in various age categories. Questionnaires were used to determine effect of caffeine and regular exercise on the presence of fasciculations. Finally, we tested the effect of strenuous exercise on fasciculations in 10 healthy adults. Twenty-five subjects (43%) showed fasciculations on ultrasonography, mostly in the abductor hallucis longus muscle. Fasciculations were only sporadically encountered in muscle groups above the knee. Subjects with fasciculations were significantly older than those without. Caffeine and regular physical exercise did not influence the prevalence of fasciculations. However, strenuous physical exercise caused a temporary increase in fasciculations, but only in lower leg muscles. Fasciculations above the knee should raise suspicion and may warrant further investigation.


Assuntos
Envelhecimento , Cafeína/administração & dosagem , Exercício Físico , Fasciculação/diagnóstico por imagem , Fasciculação/epidemiologia , Adulto , Distribuição por Idade , Idoso , Idoso de 80 Anos ou mais , Bebidas , Estimulantes do Sistema Nervoso Central/administração & dosagem , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Músculo Esquelético/diagnóstico por imagem , Prevalência , Valores de Referência , Inquéritos e Questionários , Ultrassonografia , Adulto Jovem
20.
Neurorehabil Neural Repair ; 23(1): 45-51, 2009 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-18794218

RESUMO

OBJECTIVE: The primary aim of this study was to compare the predictive value of motor evoked potentials (MEPs) and early clinical assessment with regard to long-term hand motor recovery in patients with profound hemiplegia after stroke. METHODS: The sample was an inception cohort of 39 stroke patients with an acute, ischemic, supratentorial stroke and an initial upper-extremity paralysis admitted to an academic hospital. Hand motor function recovery was defined at 26 weeks poststroke as a Fugl-Meyer Motor Assessment (FMA) hand score>3 points. The following prognostic factors were compared at week 1 and week 3 poststroke: motor functions as assessed by the FMA upper-extremity and lower-extremity subscores, and the presence of an MEP in the abductor digiti minimi and biceps brachii muscle. RESULTS: Both the presence of an abductor digiti minimi-MEP and any motor recovery in the FMA upper-extremity subscore showed a positive predictive value of 1.00 at weeks 1 and 3. The FMA lower-extremity subscore showed the best negative predictive value (0.90; 95% CI 0.78-1.00 at week 1 and 0.95; 95% CI 0.87-1.00 at week 3). CONCLUSIONS: In stroke patients with an initial paralysis of the upper extremity the presence or absence of an MEP has similar predictive value compared with early clinical assessment with regard to long-term hand motor recovery.


Assuntos
Potencial Evocado Motor/fisiologia , Mãos/fisiopatologia , Hemiplegia/diagnóstico , Reabilitação do Acidente Vascular Cerebral , Adulto , Idoso , Idoso de 80 Anos ou mais , Braço/inervação , Braço/fisiopatologia , Estudos de Coortes , Avaliação da Deficiência , Feminino , Mãos/inervação , Hemiplegia/etiologia , Hemiplegia/fisiopatologia , Humanos , Masculino , Pessoa de Meia-Idade , Córtex Motor/fisiopatologia , Músculo Esquelético/inervação , Músculo Esquelético/fisiopatologia , Condução Nervosa/fisiologia , Valor Preditivo dos Testes , Prognóstico , Recuperação de Função Fisiológica/fisiologia , Acidente Vascular Cerebral/fisiopatologia , Estimulação Magnética Transcraniana/métodos , Adulto Jovem
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