RESUMEN
INTRODUCTION: Myotonic dystrophy type 1 (DM1) is a multisystemic disorder characterized mainly by skeletal muscle alterations. Although oropharyngeal dysphagia is a prominent clinical feature of DM1, it remains poorly studied in its early disease stages. METHODS: Dysphagia was investigated in 11 presymptomatic DM1 carriers, 14 patients with DM1 and 12 age-matched healthy controls, by using fiberoptic endoscopic evaluation of swallowing (FEES) and clinical scores. RESULTS: Scores for the FEES variables, delayed pharyngeal reflex, posterior pooling, and postswallow residue were significantly greater in patients with DM1 and in presymptomatic DM1 carriers than in healthy controls (P < 0.05); oropharyngeal dysfunction was more severe in patients than in presymptomatic carriers. Penetration/aspiration was found altered exclusively in patients with DM1 (P < 0.05). DISCUSSION: Swallowing dysfunction occurs in presymptomatic DM1 carriers. Timely diagnosis of dysphagia in preclinical stages of the disease will aid in the timely management of presymptomatic carriers, potentially preventing medical complications. Muscle Nerve, 2019.
Asunto(s)
Enfermedades Asintomáticas , Trastornos de Deglución/fisiopatología , Distrofia Miotónica/fisiopatología , Adolescente , Adulto , Anciano , Estudios de Casos y Controles , Trastornos de Deglución/etiología , Endoscopía del Sistema Digestivo , Femenino , Humanos , Masculino , Persona de Mediana Edad , Mutación , Distrofia Miotónica/complicaciones , Distrofia Miotónica/genética , Proteína Quinasa de Distrofia Miotónica/genética , Adulto JovenRESUMEN
OBJECTIVE: To evaluate sensitivity/specificity of the maximum relaxation rate (MRR) of inspiratory muscles, amplitude of electromyographic activity of the sternocleidomastoid (SCM), scalene (SCA), parasternal (2ndIS) and rectus abdominis (RA) muscles; lung function and respiratory muscle strength in subjects with Myotonic dystrophy type 1 (DM1) compared with healthy subjects. DESIGN AND METHODS: Quasi-experimental observational study with control group. MRR of inspiratory muscles, lung function and amplitude of the electromyographic activity of SCM, SCA, 2ndIS and RA muscles during maximum inspiratory pressure (PImax), maximum expiratory pressure (PEmax) and sniff nasal inspiratory pressure (SNIP) tests were assessed in eighteen DM1 subjects and eleven healthy. RESULTS: MRR was lower in DM1 group compared to healthy (P = 0.001) and was considered sensitive and specific to identify disease in DM1 and discard it in controls, as well as SNIP% (P = 0.0026), PImax% (P = 0.0077) and PEmax% (P = 0.0002). Contraction time of SCM and SCA was higher in DM1 compared to controls, respectively, during PImax (P = 0.023 and P = 0.017) and SNIP (P = 0.015 and P = .0004). The DM1 group showed lower PImax (P = .0006), PEmax (P = 0.0002), SNIP (P = 0.0014), and higher electromyographic activity of the SCM (P = 0.002) and SCA (P = 0.004) at rest; of 2ndIS (P = 0.003) during PEmax and of SCM (P = 0.02) and SCA (P = 0.03) during SNIP test. CONCLUSIONS: MD1 subjects presented restrictive pattern, reduced respiratory muscle strength, muscular electrical activity and MRR when compared to higher compared to controls. In addition, the lower MRR found in MD1 subjects showed to be reliable to sensitivity and specificity in identifying the delayed relaxation of respiratory muscles.
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Fuerza Muscular/fisiología , Distrofia Miotónica/fisiopatología , Músculos Respiratorios/fisiopatología , Adulto , Antropometría , Electromiografía , Espiración/fisiología , Femenino , Humanos , Inhalación/fisiología , Masculino , Relajación Muscular/fisiología , Presión , Curva ROC , Pruebas de Función Respiratoria , Tamaño de la Muestra , Factores de TiempoRESUMEN
The purpose of the study was to evaluate the frequency of ophthalmologic abnormalities in a cohort of myotonic dystrophy type 1 (DM1) patients and to correlate them with motor function. We reviewed the pathophysiology of cataract and low intraocular pressure (IOP). Method Patients were included after clinical and laboratory diagnosis and after signed informed consent. They were evaluated by Motor Function Measure scale, Portuguese version (MFM-P) and ophthalmic protocol. Results We evaluated 42 patients aged 17 to 64 years (mean 40.7 ± 12.5), 22 of which were men. IOP (n = 41) was reduced in all but one. We found cataract or positivity for surgery in 38 (90.48%) and ptosis in 23 (54.76%). These signs but not IOP were significantly correlated with severity of motor dysfunction. Abnormalities in ocular motility and stereopsis were observed. Conclusion Cataract and ptosis are frequent in DM1 and associated to motor dysfunction. Reduced IOP is also common, but appears not to be related with motor impairment.
Asunto(s)
Blefaroptosis/etiología , Catarata/etiología , Presión Intraocular/fisiología , Distrofia Miotónica/complicaciones , Adolescente , Adulto , Blefaroptosis/fisiopatología , Catarata/fisiopatología , Femenino , Humanos , Masculino , Persona de Mediana Edad , Distrofia Miotónica/fisiopatologíaRESUMEN
ABSTRACT Steinert's disease is an intrinsic disorder of the muscle with multisystem manifestations. Myotonia may affect any muscle group, is elicited by several factors and drugs used in general anesthesia like hypnotics, sedatives and opioids. Although some authors recommend the use of regional anesthesia or combined anesthesia with low doses of opioids, the safest anesthetic technique still has to be established. We performed a continuous spinal anesthesia in a patient with Steinert's disease undergoing laparoscopic cholecystectomy using 10 mg of bupivacaine 0.5% and provided ventilatory support in the perioperative period. Continuous spinal anesthesia was safely used in Steinert's disease patients but is not described for laparoscopic cholecystectomy. We reported a continuous spinal anesthesia as an appropriate technique for laparoscopic cholecystectomy and particularly valuable in Steinert's disease patients.
RESUMO A doença de Steinert é uma desordem intrínseca do músculo com manifestações multissistêmicas. A miotonia pode afetar qualquer grupo muscular e é provocada por vários fatores e medicamentos usados em anestesia geral, como hipnóticos, sedativos e opiáceos. Embora alguns autores recomendem o uso de anestesia regional ou anestesia combinada com opiáceos em doses baixas, a técnica anestésica mais segura ainda precisa ser estabelecida. Administramos raquianestesia contínua em um paciente com doença de Steinert submetido à colecistectomia laparoscópica, com 10 mg de bupivacaína a 0,5%, e fornecemos suporte ventilatório no período perioperatório. A raquianestesia contínua foi usada com segurança em pacientes com doença de Steinert, mas não foi relatada em colecistectomia laparoscópica. Relatamos a raquianestesia contínua como uma técnica adequada para a colecistectomia laparoscópica e particularmente valiosa em pacientes com doença de Steinert.
Asunto(s)
Humanos , Femenino , Adulto , Colecistectomía Laparoscópica/métodos , Anestesia Raquidea/métodos , Anestésicos Locales/administración & dosificación , Distrofia Miotónica/complicaciones , Bupivacaína/administración & dosificación , Distrofia Miotónica/fisiopatologíaRESUMEN
Steinert's disease is an intrinsic disorder of the muscle with multisystem manifestations. Myotonia may affect any muscle group, is elicited by several factors and drugs used in general anesthesia like hypnotics, sedatives and opioids. Although some authors recommend the use of regional anesthesia or combined anesthesia with low doses of opioids, the safest anesthetic technique still has to be established. We performed a continuous spinal anesthesia in a patient with Steinert's disease undergoing laparoscopic cholecystectomy using 10mg of bupivacaine 0.5% and provided ventilatory support in the perioperative period. Continuous spinal anesthesia was safely used in Steinert's disease patients but is not described for laparoscopic cholecystectomy. We reported a continuous spinal anesthesia as an appropriate technique for laparoscopic cholecystectomy and particularly valuable in Steinert's disease patients.
Asunto(s)
Anestesia Raquidea/métodos , Anestésicos Locales/administración & dosificación , Colecistectomía Laparoscópica/métodos , Distrofia Miotónica/complicaciones , Adulto , Bupivacaína/administración & dosificación , Femenino , Humanos , Distrofia Miotónica/fisiopatologíaRESUMEN
ABSTRACT The purpose of the study was to evaluate the frequency of ophthalmologic abnormalities in a cohort of myotonic dystrophy type 1 (DM1) patients and to correlate them with motor function. We reviewed the pathophysiology of cataract and low intraocular pressure (IOP). Method Patients were included after clinical and laboratory diagnosis and after signed informed consent. They were evaluated by Motor Function Measure scale, Portuguese version (MFM-P) and ophthalmic protocol. Results We evaluated 42 patients aged 17 to 64 years (mean 40.7 ± 12.5), 22 of which were men. IOP (n = 41) was reduced in all but one. We found cataract or positivity for surgery in 38 (90.48%) and ptosis in 23 (54.76%). These signs but not IOP were significantly correlated with severity of motor dysfunction. Abnormalities in ocular motility and stereopsis were observed. Conclusion Cataract and ptosis are frequent in DM1 and associated to motor dysfunction. Reduced IOP is also common, but appears not to be related with motor impairment.
RESUMO O objetivo do estudo foi avaliar a frequência das anormalidades oftalmológicas em uma coorte de pacientes com distrofia miotônica tipo 1 (DM1) correlacionando-as à função motora. Revisamos a fisiopatogenia da catarata e baixa pressão intraocular (PIO). Método Os pacientes foram incluídos após diagnóstico clínico-laboratorial de DM1. Aqueles que assinaram o termo de participação foram avaliados pela escala medida da função motora, versão em português (MFM-P) e protocolo oftalmológico. Resultados Avaliamos 42 pacientes de 17 a 64 anos (média 40,7 ± 12,5), 22 do sexo masculino. Encontramos catarata ou positividade de cirurgia em 38 (90,48%) e blefaroptose em 23 (54,76%) e esses sinais foram correlacionados significativamente à maior gravidade da disfunção motora. Baixa PIO também foi comum e não correlacionada à gravidade motora. Alterações da motilidade ocular e de estereopsia ocorreram. Conclusão Catarata e ptose palpebral são frequentes na DM1 e associadas à gravidade motora. Baixa PIO é comum e parece ser independente da evolução motora.
Asunto(s)
Humanos , Masculino , Femenino , Adolescente , Adulto , Persona de Mediana Edad , Blefaroptosis/etiología , Catarata/etiología , Presión Intraocular/fisiología , Distrofia Miotónica/complicaciones , Blefaroptosis/fisiopatología , Catarata/fisiopatología , Distrofia Miotónica/fisiopatologíaRESUMEN
Oropharyngeal dysphagia and esophageal motility disorders were found to be the most important causes of aspiration pneumonia in patients with myotonic dystrophy. The purpose of this report was to evaluate clinical characteristics of the oral motor movements and swallowing of individuals with myotonic dystrophy type 1 (DM1) using a standardized clinical protocol and surface electromyography (sEMG). Participants were 40 individuals divided in two groups: G1 composed of 20 adults with DM1 and G2 composed of 20 healthy volunteers paired by age and gender to the individuals in G1. Statistical analysis included one-way ANOVA with two factors for within- and between-group comparisons and Bonferroni correction for multiple comparisons. Patients with DM1 presented deficits in posture, position, and mobility of the oral motor structures, as well as compromised mastication and deglutition. The sEMG data indicated that these patients had longer muscle activations during swallowing events. The longer duration of sEMG in the group of patients with DM1 is possibly related to myotonia and/or incoordination of the muscles involved in the swallowing process or could reflect a physiological adaptation for safe swallowing.
Asunto(s)
Deglución/fisiología , Distrofia Miotónica/fisiopatología , Adulto , Estudios de Casos y Controles , Mejilla/fisiopatología , Estudios Transversales , Electromiografía , Femenino , Humanos , Maxilares/fisiopatología , Labio/fisiopatología , Masculino , Masticación/fisiología , Movimiento , Distrofia Miotónica/complicaciones , Lengua/fisiopatologíaRESUMEN
FUNDAMENTO: O envolvimento cardíaco é comum em pacientes com Distrofia Miotônica (DM). A Variabilidade da Frequência Cardíaca (VFC) é uma técnica simples e confiável que pode ser útil para estudar a influência do sistema nervoso autonômico sobre o coração. OBJETIVO: Estudar a variabilidade da frequência cardíaca em pacientes com DM tipo 1. MÉTODOS: Estudamos a VFC durante registros de 5 minutos em pacientes com DM em um grupo controle saudável. Analisamos os domínios da frequência (BF e AF) em unidades normalizadas (un) e balanço simpático-vagal, na posição sentada e em decúbito dorsal. RESULTADOS: Dezessete pacientes (10 homens e 7 mulheres) e dezessete indivíduos pareados saudáveis (10 homens e 7 mulheres) foram estudados. As modulações simpática e parassimpática do coração elevadas em pacientes do sexo masculino com DM da posição em decúbito dorsal para a posição sentada em 19% da AFun e a razão BF/AF aumentaram 42,3%. Na posição sentada, os pacientes do sexo masculino com DM apresentaram balanços simpático-vagal significativamente mais elevados em 50,9% em comparação com indivíduos controles saudáveis. A VFC foi influenciada tanto pelo sexo quanto pela enfermidade apresentada. O sexo influenciou a AFun na posição em decúbito dorsal, enquanto a razão BF/AF e AFun foi afetada em ambas as posições. Análises post hoc mostraram que o sexo afeta significativamente pacientes com DM e indivíduos saudáveis de diferentes maneiras (p < 0,01). O domínio de baixa frequência na posição sentada (AFun) foi significativamente influenciado pela enfermidade. CONCLUSÃO: Os resultados deste estudo sugerem que o estímulo simpático em pacientes de meia-idade do sexo masculino com DM que não está gravemente comprometido e apresenta duração moderada da doença parece ser maior do que em indivíduos saudáveis pareados.
BACKGROUND: Cardiac involvement is common in myotonic dystrophy (MD) patients. Heart rate variability (HRV) is a simple and reliable technique that can be useful for studying the influence of the autonomic nervous system on the heart. OBJECTIVE: Study heart rate variability in patients with type 1 MD. METHODS: We studied HRV during 5-minute recordings in MD patients and in a healthy control group. We analyzed frequency domains (LF and HF) in normalized units (nu) and sympathovagal balance, in the sitting and supine position. RESULTS: Seventeen patients (10 men and 7 women) and seventeen matched healthy individuals (10 men and 7 women) were studied. Sympathetic and parasympathetic modulations of the heart increased in male MD patients from supine to sitting position in 19% of LFnu and the LF/HF ratio rose by 42.3%. In the sitting position, male MD patients exhibited significantly higher sympathovagal balances in 50.9% compared to healthy control individuals. HRV was influenced by both gender and disease. Gender influenced LFnu in the supine position while the LF/HF ratio and HFnu were affected in both positions. Post hoc analyses showed that gender significantly impacts MD patients and healthy individuals in different ways (p < 0.01). The low frequency domain in the sitting position (LFnu) was significantly influenced by the disease. CONCLUSION: The results of this study suggest that the sympathetic drive in middle-aged male MD patients who are not severely impaired and present moderate disease duration seems to be greater than in healthy matched individuals.
Asunto(s)
Adulto , Femenino , Humanos , Persona de Mediana Edad , Frecuencia Cardíaca/fisiología , Distrofia Miotónica/fisiopatología , Análisis de Varianza , Sistema Nervioso Autónomo/fisiología , Índice de Masa Corporal , Estudios de Casos y Controles , Factores Sexuales , Factores de TiempoRESUMEN
BACKGROUND: Cardiac involvement is common in myotonic dystrophy (MD) patients. Heart rate variability (HRV) is a simple and reliable technique that can be useful for studying the influence of the autonomic nervous system on the heart. OBJECTIVE: Study heart rate variability in patients with type 1 MD. METHODS: We studied HRV during 5-minute recordings in MD patients and in a healthy control group. We analyzed frequency domains (LF and HF) in normalized units (nu) and sympathovagal balance, in the sitting and supine position. RESULTS: Seventeen patients (10 men and 7 women) and seventeen matched healthy individuals (10 men and 7 women) were studied. Sympathetic and parasympathetic modulations of the heart increased in male MD patients from supine to sitting position in 19% of LFnu and the LF/HF ratio rose by 42.3%. In the sitting position, male MD patients exhibited significantly higher sympathovagal balances in 50.9% compared to healthy control individuals. HRV was influenced by both gender and disease. Gender influenced LFnu in the supine position while the LF/HF ratio and HFnu were affected in both positions. Post hoc analyses showed that gender significantly impacts MD patients and healthy individuals in different ways (p < 0.01). The low frequency domain in the sitting position (LFnu) was significantly influenced by the disease. CONCLUSION: The results of this study suggest that the sympathetic drive in middle-aged male MD patients who are not severely impaired and present moderate disease duration seems to be greater than in healthy matched individuals.
Asunto(s)
Frecuencia Cardíaca/fisiología , Distrofia Miotónica/fisiopatología , Adulto , Análisis de Varianza , Sistema Nervioso Autónomo/fisiología , Índice de Masa Corporal , Estudios de Casos y Controles , Femenino , Humanos , Masculino , Persona de Mediana Edad , Factores Sexuales , Factores de TiempoRESUMEN
Myotonic dystrophy type 1, also known as Steinert's disease, is a multisystemic disorder with significant genetic and clinical heterogeneity. Apart from skeletal muscles' myotonia and wasting, a variety of system organs can be affected. We report on a 49 years old female patient with unremarkable medical and family history, who presented with elevated liver enzymes without signs or symptoms of chronic liver disease neither neurological features. Initial assessment, including liver biopsy, did not reveal the cause of these abnormalities. Eight months later, she complained for disequilibrium and eventually electromyography confirmed the diagnosis of Steinert's disease. Steinert's disease should be considered in the differential diagnosis of patients with elevated liver enzymes, as long as abnormal liver tests may be the initial presentation. The pathophysiological mechanism of this abnormality remains unclear.
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Hígado/enzimología , Hígado/fisiopatología , Distrofia Miotónica/diagnóstico , Distrofia Miotónica/fisiopatología , Alanina Transaminasa/metabolismo , Aspartato Aminotransferasas/metabolismo , Biopsia , Diagnóstico Diferencial , Femenino , Humanos , Hígado/patología , Pruebas de Función Hepática , Persona de Mediana Edad , gamma-Glutamiltransferasa/metabolismoRESUMEN
PURPOSE: Low intraocular pressure (IOP) measured by Goldmann applanation tonometry (GAT) is one of the ocular manifestations of Steinert's myotonic dystrophy. The goal of this study was to evaluate the corneal-compensated IOP as well as corneal properties (central corneal thickness and corneal hysteresis) in patients with myotonic dystrophy. METHODS: A total of 12 eyes of 6 patients with Steinert's myotonic dystrophy (dystrophy group) and 12 eyes of 6 age-, race-, and gender-matched healthy volunteers (control group) were included in the study. GAT, Dynamic Contour Tonometry (DCT-Pascal) and Ocular Response Analyzer (ORA) were used to assess the IOP. Central corneal thickness was obtained by ultrasound pachymetry, and corneal hysteresis was analyzed using the ORA device. In light of the multiplicity of tests performed, the significance level was set at 0.01 rather than 0.05. RESULTS: The mean (standard deviation [SD]) GAT, DCT, and corneal-compensated ORA IOP in the dystrophy group were 5.4 (1.4) mmHg, 9.7 (1.5) mmHg, and 10.1 (2.6) mmHg, respectively. The mean (SD) GAT, DCT, and corneal-compensated ORA IOP in the control group was 12.6 (2.9) mmHg, 15.5 (2.7) mmHg, and 15.8 (3.4) mmHg, respectively. There were significant differences in IOP values between dystrophy and control groups obtained by GAT (mean, -7.2 mmHg; 99% confidence interval [CI], -10.5 to -3.9 mmHg; P<0.001), DCT (mean, -5.9 mmHg; 99% CI, -8.9 to -2.8 mmHg; P<0.001), and corneal-compensated ORA measurements (mean, -5.7 mmHg; 99% CI, -10.4 to -1.0 mmHg; P=0.003). The mean (SD) central corneal thickness was similar in the dystrophy (542 [31] µm) and control (537 [11] µm) groups (P=0.65). The mean (SD) corneal hysteresis in the dystrophy and control groups were 11.2 (1.5) mmHg and 9.7 (1.2) mmHg, respectively (P=0.04). CONCLUSIONS: Patients with Steinert's myotonic dystrophy showed lower Goldmann and corneal-compensated IOP in comparison with healthy individuals. Since central corneal thickness and corneal hysteresis did not differ significantly between groups, the lower IOP readings documented in this dystrophy seem not to be related to changes in corneal properties.
Asunto(s)
Córnea/fisiopatología , Presión Intraocular/fisiología , Distrofia Miotónica/fisiopatología , Adulto , Estudios de Casos y Controles , Córnea/diagnóstico por imagen , Córnea/patología , Topografía de la Córnea/métodos , Estudios Transversales , Elasticidad/fisiología , Femenino , Humanos , Masculino , Persona de Mediana Edad , Tonometría Ocular/métodos , UltrasonografíaRESUMEN
Myotonic dystrophy (DM), the commonest dystrophy in adults, is an autosomal dominant disease characterized by a variety of multisystemic features. Two main genetically distinct forms of DM have been identified: type 1 (DM1), the classic form first described by Steinert, and type 2 (DM2), identified by Ricker. DM1 is caused by trinucleotide expansion of cytosine- -thymine-guanine (CTG) in the myotonic dystrophy protein kinase gene, whereas in DM2 the expansion of tetranucleotide repeats (CCTG) in the zinc finger protein 9 gene was identified. Both mutations are dynamic and are located in non-coding parts of the genes. Phenotype variability of DM1 and DM2 is caused by a molecular mechanism due to mutated RNA toxicity. DM1 is characterized by myotonia and multi-organ damage with major cardiac involvement. The disease is usually slowly progressive and life expectancy is reduced by the increased mortality associated with cardiopulmonary complications. Sudden death can occur as a consequence of cardiac-conduction abnormalities. We present the ECG of a 26 year-old male with DM1 and progressive conduction system disturbance characterized by syncopal episodes.
Asunto(s)
Bloqueo Atrioventricular/etiología , Bloqueo Atrioventricular/fisiopatología , Sistema de Conducción Cardíaco/fisiopatología , Distrofia Miotónica/complicaciones , Distrofia Miotónica/fisiopatología , Adulto , Bloqueo Atrioventricular/diagnóstico , Progresión de la Enfermedad , Electrocardiografía , Humanos , Masculino , Síncope/diagnóstico , Síncope/etiología , Síncope/fisiopatologíaRESUMEN
PURPOSE: Low intraocular pressure (IOP) measured by Goldmann applanation tonometry (GAT) is one of the ocular manifestations of Steinert's myotonic dystrophy. The goal of this study was to evaluate the corneal-compensated IOP as well as corneal properties (central corneal thickness and corneal hysteresis) in patients with myotonic dystrophy. METHODS: A total of 12 eyes of 6 patients with Steinert's myotonic dystrophy (dystrophy group) and 12 eyes of 6 age-, race-, and gender-matched healthy volunteers (control group) were included in the study. GAT, Dynamic Contour Tonometry (DCT-Pascal) and Ocular Response Analyzer (ORA) were used to assess the IOP. Central corneal thickness was obtained by ultrasound pachymetry, and corneal hysteresis was analyzed using the ORA device. In light of the multiplicity of tests performed, the significance level was set at 0.01 rather than 0.05. RESULTS: The mean (standard deviation [SD]) GAT, DCT, and corneal-compensated ORA IOP in the dystrophy group were 5.4 (1.4) mmHg, 9.7 (1.5) mmHg, and 10.1 (2.6) mmHg, respectively. The mean (SD) GAT, DCT, and corneal-compensated ORA IOP in the control group was 12.6 (2.9) mmHg, 15.5 (2.7) mmHg, and 15.8 (3.4) mmHg, respectively. There were significant differences in IOP values between dystrophy and control groups obtained by GAT (mean, -7.2 mmHg; 99 percent confidence interval [CI], -10.5 to -3.9 mmHg; P<0.001), DCT (mean, -5.9 mmHg; 99 percent CI, -8.9 to -2.8 mmHg; P<0.001), and corneal-compensated ORA measurements (mean, -5.7 mmHg; 99 percent CI, -10.4 to -1.0 mmHg; P=0.003). The mean (SD) central corneal thickness was similar in the dystrophy (542 [31] µm) and control (537 [11] µm) groups (P=0.65). The mean (SD) corneal hysteresis in the dystrophy and control groups were 11.2 (1.5) mmHg and 9.7 (1.2) mmHg, respectively (P=0.04). CONCLUSIONS: Patients with Steinert's myotonic dystrophy showed lower Goldmann and corneal-compensated IOP in comparison with healthy individuals. Since central corneal thickness and corneal hysteresis did not differ significantly between groups, the lower IOP readings documented in this dystrophy seem not to be related to changes in corneal properties.
OBJETIVOS: Pressão intraocular (PIO) baixa medida por meio da tonometria de aplanação de Goldmann (TAG) é uma das manifestações oculares da distrofia miotônica de Steinert. O objetivo deste estudo foi avaliar a pressão intraocular compensada para as propriedades corneais (espessura corneal central e histerese corneal) em pacientes com distrofia miotônica. MÉTODOS: Um total de 12 olhos de 6 pacientes com distrofia miotônica de Steinert (grupo distrofia) e 12 olhos de 6 voluntários sadios (grupo controle) pareados para idade, raça e sexo foram incluídos no estudo. Tonometria de aplanação de Goldmann, tonometria de contorno dinâmico (TCD-Pascal) e analisador de resposta ocular (ORA) foram usados para medir a pressão intraocular. A espessura corneal central foi obtida por meio da paquimetria ultrassônica e a histerese corneal foi analizada usando o aparelho ORA. RESULTADOS: A pressão intraocular média (desvio-padrão) da TAG, TCD e compensada para a córnea do ORA no grupo distrofia foram 5,4 (1,4) mmHg, 9,7 (1,5) mmHg e 10,1 (2,6) mmHg, respectivamente. A pressão intraocular média (desvio-padrão) da TAG, TCD e compensada para a córnea do ORA no grupo controle foram 12,6 (2,9) mmHg, 15,5 (2,7) mmHg e 15,8 (3,4) mmHg, respectivamente. Houve diferença significativa nos valores da pressão intraocular entre os grupos distrofia e controle obtidas pela TAG (média, -7,2 mmHg; intervalo de confiança (IC) de 99 por cento, -10,5 a -3,9 mmHg; P<0,001), TCD (média, -5,9 mmHg; IC de 99 por cento, -8,9 a -2,8 mmHg; P<0,001) e ORA compensada para córnea (média, -5,7 mmHg; IC de 99 por cento, -10,4 a -1,0 mmHg; P=0,003). A espessura corneal média (desvio-padrão) foi similar nos grupos distrofia (542 [31] µm) e controle (537 [11] µm) (P=0,65). A histerese corneal média (desvio-padrão) nos grupos distrofia e controle foram de 11,2 (1,5) mmHg e 9,7 (1,2) mmHg, respectivamente (P=0,04). CONCLUSÃO: Os pacientes com distrofia miotônica de Steinert apresentaram valores menores de pressão intraocular medidas tanto com Goldmann quanto compensadas para a córnea em comparação com indivíduos sadios. Uma vez que os valores da espessura corneal central e histerese corneal não diferiram significantemente entre os grupos, os valores baixos da pressão intraocular encontrados nos pacientes com distrofia miotônica não parecem estar relacionados com as propriedades corneais.
Asunto(s)
Adulto , Femenino , Humanos , Masculino , Persona de Mediana Edad , Córnea/fisiopatología , Presión Intraocular/fisiología , Distrofia Miotónica/fisiopatología , Estudios de Casos y Controles , Estudios Transversales , Córnea/patología , Córnea , Topografía de la Córnea/métodos , Elasticidad/fisiología , Tonometría Ocular/métodosRESUMEN
Objective: To present a case of myotonic syndrome in a 35-year-old male patient and to review anddiscuss the literature. Discussion and conclusion: The myotonic syndrome is a steadily progressive,familial, distal myopathy with associated weakness of the muscles of face, jaw, neck and elevators of theeyelids, a tendency for myotonic persistence of contraction in the affected parts and testicular atrophy.The patient was referred to the Department with complaint of recurrent temporomandibular joint dislocation,presenting with the characteristic oro-facial manifestations of myotonic syndrome.
Objetivo: Apresentar um caso de síndrome miotônica em um paciente adulto, 35 anos, sexo masculino, bem comorever e discutir a literatura pertinente. Discussão e conclusão: A síndrome miotônica é uma miopatia distal deprogressão contínua, familiar, e associada à fraqueza dos músculos da face, mandíbula, pescoço e músculos elevadoresdas pálpebras, com tendência de persistência de contratura miotônica nas partes afetadas, bem como atrofi a testicular.O paciente se apresentou ao departamento com queixa de deslocamento recorrente da articulação temporomandibular,apresentando as características de manifestações orofaciais de síndrome miotônica.
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Humanos , Femenino , Adulto , Cara/anomalías , Enfermedades de la Boca/etiología , Distrofia Miotónica/fisiopatología , Músculo Esquelético/fisiopatologíaRESUMEN
Objetivo: Identificar as principais alterações audiológicas em indivíduos portadores de distrofia miotônica de Steinert. Métodos: Cinco indivíduos foram submetidos à audiometria tonal e vocal, imitanciometria, teste de função tubária, pesquisa do reflexo estapediano, declínio do reflexo acústico e aplicação de dois questionários: a) Desempenho da função auditiva; b) Investigação psico-acústica-social. Resultados: O estudo demonstrou que 60 por cento da amostra apresentaram limiares auditivos dentro dos padrões de normalidade, 10 por cento perda condutiva e 30 por cento perda auditiva nas freqüências altas. Em relação aos reflexos estapedianos, observou-se o percentual de alteração de 30 por cento nas freqüências de 0,5 e 1 kHz e de 40 por cento em 2 e 4 kHz. Observou-se declínio do reflexo acústico em 10 por cento da amostra nas freqüências de 0,5 e 1 kHz. Conclusão: O estudo mostrou que o padrão audiológico típico de perda auditiva em freqüências altas foi observado em 30 por cento da amostra.
Purpose: To identify the main hearing disorders in individuals with Steinert's myotonic dystrophy. Methods: Five individuals were submitted to tonal and vocal audiometry, acoustic impedance tests, examination of Eustaquian tube function, acoustic reflex investigation,and acoustic reflex decay. They also answered two questionnaires: a) Performance of auditory function; b) Psycho-acoustic-social investigation. Results: The study showed that 60 percent of the sample presented normal hearing thresholds, 10 percent had conductive hearing loss and 30 percent had hearing loss in high frequencies. Concerning acoustic reflexes, it was observed that 30 percent of the subjects presented deficits at 0.5 and 1 kHz and 40 percent at 2 and 4 kHz. Acoustic reflex decay was observed in 10 percent of the sample at 0,5 and 1 kHz. Conclusion: The study showed that the typical auditory profile of high-frequencies hearing loss was observed in 30 percent of the sample.
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Pruebas de Impedancia Acústica , Distrofia Miotónica/complicaciones , Distrofia Miotónica/fisiopatología , Trompa Auditiva , Pérdida Auditiva , Reflejo/genética , EstapedioRESUMEN
Myotonic dystrophy is a multisystemic disease with varying symptomatology. The aim of this study was to compare the maximal bite force and handgrip force in patients with molecular diagnosis of myotonic dystrophy with those in a group of healthy individuals. It was hypothesized that these forces were reduced in the patients in comparison with the control subjects. The bite and handgrip forces of 37 patients with molecular diagnosis of myotonic dystrophy and 37 control subjects matched regarding age and gender were measured using an electronic dynamometer. The bite and handgrip forces were significantly lower in the myotonic dystrophy patient group when compared with the healthy controls (P < 0.0001). There were no significant force differences between genders, right- or left-hand side of mastication or hands in the myotonic dystrophy patient group whereas such differences were found among the controls. There were moderate but significant correlations between bite and handgrip force in both groups (r = 0.43-0.59; P < 0.01). It was concluded that there were considerable differences between the myotonic dystrophy group and the control subjects regarding both bite force and handgrip force. The weakness of the masticatory and hand muscles may have various negative consequences for oral function and dental health in patients with myotonic dystrophy.
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Fuerza de la Mordida , Fuerza de la Mano/fisiología , Distrofia Miotónica/fisiopatología , Adolescente , Adulto , Niño , Salud de la Familia , Femenino , Lateralidad Funcional/fisiología , Humanos , Masculino , Músculos Masticadores/fisiopatología , Persona de Mediana Edad , Dinamómetro de Fuerza Muscular , Factores SexualesRESUMEN
Steinert's myotonic dystrophy (SMD) is a systemic-type dominant autosomal disease, with variable clinical expression. Recent magnetic resonance studies conducted in patients with this disease have described the presence of lesions in the white matter of the brain and there have also been reports of a correlation between these and the presence of cognitive disorders. Nevertheless, very little work has been published about the electroencephalographic (EEG) findings in this disease. In this study both conventional and quantitative EEG were performed on 10 patients with SMD aged between 17 and 50 years. 90 percent of the patients showed a posterior alpha rhythm that was disorganised but which reacted on opening and closing the eyes, as well as the presence of continuous theta activity over the base activity that was bilaterally more pronounced towards the frontal-central regions. In the quantitative analysis we observed an increase in the absolute energies for the slow bands and a decrease for the fast bands on the frequency spectrum. In most patients (80 percent) spectral peaks were found within the theta range of frequencies as a correlate of the slow activity observed in the conventional analysis...(AU)
Asunto(s)
Humanos , Femenino , Adolescente , Adulto , Persona de Mediana Edad , Electroencefalografía/métodos , Distrofia Miotónica/fisiopatología , Distrofia Miotónica/diagnósticoRESUMEN
INTRODUCTION: Steinert's myotonic dystrophy (SMD) is a systemic-type dominant autosomal disease, with variable clinical expression. Recent magnetic resonance studies conducted in patients with this disease have described the presence of lesions in the white matter of the brain and there have also been reports of a correlation between these and the presence of cognitive disorders. Nevertheless, very little work has been published about the electroencephalographic (EEG) findings in this disease. PATIENTS AND METHODS: In this study both conventional and quantitative EEG were performed on 10 patients with SMD aged between 17 and 50 years. RESULTS: 90% of the patients showed a posterior alpha rhythm that was disorganised but which reacted on opening and closing the eyes, as well as the presence of continuous theta activity over the base activity that was bilaterally more pronounced towards the frontal-central regions. In the quantitative analysis we observed an increase in the absolute energies for the slow bands and a decrease for the fast bands on the frequency spectrum. In most patients (80%) spectral peaks were found within the theta range of frequencies as a correlate of the slow activity observed in the conventional analysis. CONCLUSIONS: It can be concluded that a quantitative EEG could be useful in the study of what, for many years, has been considered to be a 'neuromuscular' disease and that the use of other more precise methods, such as cerebral coherence and brain electrical tomography, could shed new light on the functional management of these patients.