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INTRODUCTION/AIMS: Not all patients with chronic inflammatory demyelinating polyneuropathy (CIDP) have evidence of demyelination on nerve conduction studies (NCS). Patients with "supportive" evidence of CIDP on cerebrospinal fluid (CSF), magnetic resonance imaging (MRI), ultrasound (US), or nerve biopsy but not on NCS, often receive immunomodulating therapy. We evaluated the treatment response of patients with clinical and supportive features of CIDP lacking NCS evidence of demyelination. METHODS: Retrospective chart review was conducted on 232 patients who met CIDP clinical criteria and were treated with disease-modifying therapy. Patients included did not have NCS criteria of demyelination, but did have supportive CSF, MRI, or US findings consistent with CIDP. A positive treatment response was defined as at least a one-point improvement in the modified Rankin scale (mRS), or a four-point increase in the Medical Research Council sum score (MRCSS). RESULTS: Twenty patients met criteria: 17 of the 18 (94%) patients with CSF protein >45 mg/dL, 6 of the 14 (43%) with MRI lumbosacral root or plexus enhancement, and 4 of the 6 (67%) with enlarged proximal nerves on US. Eighteen patients received intravenous immunoglobulin, 10 corticosteroids, one plasma exchange, and six other immunomodulatory therapies. Twelve patients had a positive treatment response on the MRCSS or mRS. The presence of MRI lumbosacral root or plexus enhancement was associated with a positive treatment response. DISCUSSION: A trial of immunomodulating treatment should be considered for patients with clinical features of CIDP in the absence of NCS evidence of demyelination, particularly when there is MRI lumbosacral root or plexus enhancement.
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INTRODUCTION: The Spinal Muscular Atrophy Health Index (SMA-HI) is a multifaceted, disease-specific, patient-reported outcome to measure an SMA patient's perception of their disease burden. In preparation for upcoming therapeutic trials, we examine the validity, reliability, and usability of the SMA-HI in adults, teenagers, and children with SMA. METHODS: Using data from a cross-sectional study of 359 international adult patients with SMA, we identified the most relevant symptoms to include in the SMA-HI. We utilized factor analysis, patient interviews with adults and minors (age 8-15 years), known-group validity testing, and test-retest reliability assessments to evaluate and refine the SMA-HI. RESULTS: The SMA-HI measures overall disease burden and 15 areas of SMA health. Fifteen adult patients and five patients, age 8 to 15 years, participated in semistructured qualitative interviews and found the SMA-HI to be comprehensive, easily completed, and to have clear meaning. The final SMA-HI and its subscales demonstrated good internal consistency (Cronbach α = 0.77-0.96), high test-retest reliability (intraclass correlation coefficient = 0.60-0.96), and an ability to differentiate between SMA groups with different disease severities affecting areas such as employment and ambulation (P < .0001 for both). DISCUSSION: This research provides evidence that the SMA-HI is a valid, relevant, and reliable outcome measure to assess multifaceted patient-reported disease burden in older children, teenagers, and adults with SMA. The SMA-HI provides an opportunity for researchers and clinicians to measure a SMA patient's perception of their health and determine relevant changes in response to therapeutic intervention or disease progression.
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Atrofia Muscular Espinal/diagnóstico , Adolescente , Adulto , Anciano , Estudios Transversales , Progresión de la Enfermedad , Femenino , Humanos , Masculino , Persona de Mediana Edad , Medición de Resultados Informados por el Paciente , Índice de Severidad de la Enfermedad , Adulto JovenRESUMEN
Genetic variations in the ASAH1 gene are associated with a spectrum of disorders ranging from Farber disease (FD) to spinal muscular atrophy with or without progressive myoclonic epilepsy (SMA-PME). FD presents most commonly in infants with subcutaneous joint nodules, progressive arthritis and granulomas of the larynx and epiglottis leading to a hoarse cry. SMA-PME is characterized by childhood onset progressive weakness due to motor neuron disease followed by progressive epilepsy, tremor, and sensorineural hearing loss. We present a case of a 4-year-old boy with phenotypic features of both FD and SMA who was found to have two previously unreported heterozygous variants in the ASAH1 gene.
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Ceramidasa Ácida/genética , Lipogranulomatosis de Farber/genética , Predisposición Genética a la Enfermedad , Atrofia Muscular Espinal/genética , Niño , Preescolar , Lipogranulomatosis de Farber/patología , Variación Genética , Humanos , Lactante , Masculino , Atrofia Muscular Espinal/patologíaRESUMEN
¼ Dropped head syndrome is a group of disorders with diverse etiologies involving different anatomical components of the neck, ultimately resulting in a debilitating, flexible, anterior curvature of the cervical spine. ¼ Causes of dropped head syndrome include myasthenia gravis, amyotrophic lateral sclerosis, Parkinson disease, radiation therapy, and cumulative age-related changes. Idiopathic cases have also been reported. ¼ Nonoperative treatment of dropped head syndrome includes orthotic bracing and physical therapy. ¼ Surgical treatment of dropped head syndrome consists of cervical spine fusion to correct the deformity. ¼ The limited data available examining the clinical and radiographic outcomes of surgical intervention indicate a higher rate of complications with the majority having favorable outcomes in the long term.
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Vértebras Cervicales , Cifosis/etiología , Músculos del Cuello , Humanos , Cifosis/rehabilitación , Cifosis/cirugía , Enfermedades Neuromusculares/complicaciones , Aparatos OrtopédicosRESUMEN
OBJECTIVE: To determine the frequency and relative importance of symptoms experienced by adults with spinal muscular atrophy (SMA) and to identify factors that are associated with a higher burden of disease in this population. METHODS: We conducted a cross-sectional study of 359 adults with SMA using the International SMA Patient Registry. Participants provided input regarding 20 symptomatic themes and 207 symptoms that potentially affect adults with SMA. Participants were asked about the relative importance of each symptom, and analysis was conducted to determine how age, sex, SMA type, education, mobility, and employment status relate to symptom prevalence. RESULTS: Limitations with mobility or walking (98.6%) and the inability to do activities (98.6%) were the 2 themes with the highest prevalence in the study sample. Limitation with mobility or walking was the theme that was identified as having the greatest effect on the lives of adults with SMA. Employment status was associated with the prevalence of 4 of 20 themes and a reliance on an assistive device was associated with 7 of 20 themes. The prevalence of breathing difficulties, choking or swallowing difficulties, and communication difficulties differed among those with different SMA types. CONCLUSIONS: There are many symptomatic themes that affect the lives of adults with SMA. These themes vary in prevalence and relative importance in the adult SMA population.
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Atrofia Muscular Espinal/epidemiología , Actividades Cotidianas , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Trastornos de la Comunicación/epidemiología , Trastornos de la Comunicación/etiología , Trastornos de la Comunicación/fisiopatología , Estudios Transversales , Trastornos de Deglución/epidemiología , Trastornos de Deglución/etiología , Trastornos de Deglución/fisiopatología , Evaluación de la Discapacidad , Empleo , Femenino , Humanos , Masculino , Persona de Mediana Edad , Atrofia Muscular Espinal/diagnóstico , Atrofia Muscular Espinal/fisiopatología , Medición de Resultados Informados por el Paciente , Prevalencia , Trastornos Respiratorios/epidemiología , Trastornos Respiratorios/etiología , Trastornos Respiratorios/fisiopatología , Dispositivos de Autoayuda , Caminata , Adulto JovenRESUMEN
INTRODUCTION: Pain mechanisms in fibromyalgia syndrome (FMS) are not clearly understood. Growing evidence appears to suggest a role for small fiber polyneuropathy (SFPN) in some FMS patients, as measured by epidermal nerve fiber density (ENFD). We aimed to better characterize and distinguish the subset of patients with both fibromyalgia and small fiber, early or mild sensory polyneuropathy (FM-SFSPN). METHODS: 155 FMS patients with neuropathic symptoms completed a Short Form McGill Questionnaire and visual analog scale in addition to having skin biopsies, nerve conduction studies (NCS), and serologic testing. RESULTS: Sural and medial plantar (MP) response amplitudes correlated with ENFD, with markers of metabolic syndrome being more prevalent in this subset of patients. Pain intensity and quality did not distinguish patients. DISCUSSION: The FM-SFSPN subset of patients may be identified through sural and MP sensory NCS and/or skin biopsy but cannot be identified by pain features and intensity. Muscle Nerve 58: 625-630, 2018.
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Fibromialgia/diagnóstico , Fibromialgia/fisiopatología , Neuropatía de Fibras Pequeñas/fisiopatología , Adulto , Biopsia , Femenino , Humanos , Masculino , Persona de Mediana Edad , Conducción Nerviosa/fisiología , Dimensión del Dolor , Curva ROC , Piel/patologíaRESUMEN
INTRODUCTION: Small-amplitude, short-duration motor unit action potentials are non-specific findings seen in myopathies and neuromuscular junction (NMJ) disorders. NMJ studies (repetitive nerve stimulation and single-fiber electromyography) can determine if such findings are related to NMJ abnormalities but are not considered routinely in atypical cases. METHODS: Medical records of 338 patients with confirmed NMJ disorders were reviewed to identify cases with a clinical or electrodiagnostic impression of myopathy during initial evaluation. A history of muscle biopsy with findings that did not support a myopathic process was required for inclusion. RESULTS: Four patients met the inclusion criteria. NMJ studies were abnormal in all cases. One patient had elevated acetylcholine receptor antibodies. Three patients were antibody negative: 2 demonstrated immunotherapy responsiveness, and 1 had a Rapsyn mutation. CONCLUSIONS: NMJ disorders may mimic myopathies, and NMJ studies should be performed to clarify so-called "myopathic" electromyographic findings to avoid unnecessary testing and delayed diagnosis.
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Enfermedades Musculares/diagnóstico , Enfermedades Musculares/fisiopatología , Enfermedades de la Unión Neuromuscular/fisiopatología , Adolescente , Anticuerpos/sangre , Biopsia , Creatina Quinasa/sangre , Estimulación Eléctrica , Electromiografía , Femenino , Humanos , Músculo Esquelético/fisiopatología , Receptores Colinérgicos/inmunología , Estudios RetrospectivosRESUMEN
INTRODUCTION: Electrical impedance myography (EIM) is a noninvasive technique used for assessment of muscle health in which a high-frequency, low-amplitude electric current is applied to the skin overlying a muscle, and the resulting surface voltage is measured. We have previously used adhesive electrodes, application of which is inconvenient. We present data using a handheld electrode array (HEA) that we devised to expedite the EIM procedure in a clinical setting. METHODS: Thirty-four healthy volunteers and 24 radiculopathy subjects underwent EIM testing using the HEA and adhesive electrodes. RESULTS: The HEA was shown to have good test-retest reproducibility, with intraclass correlation coefficients as high as 0.99. HEA data correlated strongly with data from adhesive electrodes, ρ = 0.85 in healthy volunteers (P < 0.001) and ρ = 0.75 in radiculopathy subjects (P < 0.001). CONCLUSIONS: These data support the potential use of a handheld array for performing rapid localized surface impedance measurements.
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Electromiografía/instrumentación , Músculo Esquelético/fisiología , Radiculopatía/fisiopatología , Adulto , Anciano , Anciano de 80 o más Años , Impedancia Eléctrica , Electromiografía/métodos , Femenino , Humanos , Masculino , Persona de Mediana Edad , Reproducibilidad de los ResultadosRESUMEN
OBJECTIVE: Cervical dystonia (CD) lacks an objective quantitative measure. Electrical impedance myography (EIM) is a non-invasive assessment method sensitive to changes in muscle structure and physiology. We evaluate the potential role of EIM in quantifying CD, hypothesizing that patients would demonstrate differences in the symmetry of muscle electrical resistance compared to controls, and that this asymmetry would decrease after botulinum neurotoxin (BoNT) treatment. METHODS: EIM was performed on the sternocleidomastoid (SCM) and cervical paraspinal (PS) muscles of CD patients and age-matched controls. 50 kHz resistance was analyzed, comparing side-to-side asymmetry in patients and controls, and, in patients, before and after BoNT treatment. RESULTS: Sixteen patients and 10 controls were included. Resistance asymmetry was on average 3-5 times higher in patients than controls. Receiver operating characteristic analysis demonstrated 91% accuracy of discriminating CD from normal. From pre-treatment to maximum BoNT effect, asymmetry decreased from 20.8(13.9-26.1)% to 6.2(3.1-9.9)% (SCM), and from 16.0(14.3-16.0)% to 8.4(7.0-9.2)% (PS), p<0.05 (median, interquartile range). CONCLUSIONS: EIM effectively differentiates normal subjects from CD patients by revealing asymmetries in resistance values and detects improvement in muscle symmetry after treatment. SIGNIFICANCE: These results suggest that EIM, a painless, non-invasive measure, can provide a useful quantitative metric in CD evaluation and deserves further study.
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Músculo Esquelético/fisiopatología , Tortícolis/diagnóstico , Tortícolis/fisiopatología , Impedancia Eléctrica , Femenino , Humanos , Masculino , Persona de Mediana Edad , MiografíaRESUMEN
Electrical impedance myography (EIM) is a non-invasive, painless technique for the evaluation of neuromuscular disease, and here we evaluate its potential application in spinal muscular atrophy (SMA). Twenty-one SMA patients and 18 healthy children underwent EIM of biceps brachii and tibialis anterior using a commercially available impedance device. Hand-held dynamometry and ultrasound assessment of subcutaneous fat thickness were also performed. All EIM parameters differed significantly between both SMA patients and normal subjects and between type 2 and type 3 SMA patients. In addition, EIM had an accuracy level as high as 93% for correctly categorizing patients as type 2 or type 3. Multiple regression analyses confirmed a strong association between EIM and dynamometry. These results confirm that EIM can accurately categorize patients with SMA. Because EIM requires no patient effort and is rapid to apply, it may serve a useful role in future SMA clinical trials.