Cardiac conduction defects and complete heart block in myotonic dystrophy / Defectos de conduccion cardiaca y bloqueo cardiaco completo en la distrofìa miotonica

Classic myotonic dystrophy is a multisystem disorder that results from RNA toxicity and is one of the commonest adult onset muscular dystrophies. Patients often present with muscle stiffness from myotonia and dysphagia or dysarthria from laryngopharyngoesophageal muscle weakness. Benign electrocardiogram changes such as first degree atrioventricular block are commonly present and rarely merit further work up. Occasionally, patients develop advanced conduction defects which can unexpectedly progress to complete heart block perioperatively

La distrofia miotonica clásica es un trastorno multi-sistémico que resulta de la toxicidad del RNA y es una de las distrofias musculares más comunes en adultos. Los pacientes suelen presentar rigidez muscular por la miotonía, así como disfagia o disartria por debilidad muscular laringo-faríngea-esofágica. Los cambios benignos en el electrocardiograma, como el bloqueo auriculoventricular de primer grado, suelen estar presentes y rara vez merecen un análisis más profundo. Ocasionalmente, los pacientes desarrollan defectos de conduccion avanzados que pueden progresar inespera-damente para completar el bloqueo cardiaco perioperatorio.

Neuromyelitis Optica Spectrum Disorder Preceded by Myotonic Myopathy

Neuromyelitis optica spectrum disorder (NMOSD) is generally known as selective involvement of central nervous system. However, in recent years, some evidences have been found that NMOSD invades other peripheral organs. Especially, skeletal muscle involvement of NMOSD has been documented scantily and further studies must be required. Here, we describe a patient who first had generalized fatigue, mild weakness, and myalgia with increased level of serum creatine kinase and was finally diagnosed with myopathy associated with NMOSD.

Delayed Relaxation (Pseudomyotonia) as the Only Clinical Manifestation of Chronic Inflammatory Demyelinating Polyneuropathy

No abstract available.

Hashimoto Thyroiditis Presenting with a Transient Myotonia

No abstract available.

A Patient with Myotonic Dystrophy Type 1 Presenting as Parkinsonism

The current body of literature contains 5 reports of myotonic dystrophy (DM) with parkinsonism: 4 reports of DM type 2 and 1 report of clinically suspected DM type 1. To date, there have been no genetically proven cases of DM type 1 with parkinsonism. Here, we report the first case of genetically proven DM type 1 and parkinsonism that developed ahead of muscle symptoms with bilateral putaminal, presynaptic dopaminergic deficits on imaging. A 54-year-old female patient presented with bradykinesia, axial and bilateral limb rigidity, stooped posture, and hypomimia, which did not respond to levodopa. At age 56, she developed neck flexion weakness. Examination showed bilateral facial weakness, percussion and grip myotonia, and electromyography confirmed myotonic discharges. A genetic study of DM type 1 showed a DMPK mutation. At age 58, gait freezing, postural instability, and frequent falling developed and did not respond to increasing doses of levodopa. At age 59, the patient died from asphyxia.

Myotonia Congenita Can Be Mistaken as Paroxysmal Kinesigenic Dyskinesia

No abstract available.

Cortical Thickness and White Matter Integrity are Associated with CTG Expansion Size in Myotonic Dystrophy Type I

PURPOSE: Myotonic dystrophy type 1 (DM1) is characterized by progressive muscular weakness with symptoms caused by involvement of the brain. The aim of this study was to delineate global changes in cortical thickness and white matter integrity in patients with DM1, compared to age-matched healthy controls, and in brain areas highly correlated with CTG repeat size. MATERIALS AND METHODS: Cortical thickness and white matter integrity were compared in nine adult DM1 patients and age matched healthy controls using T1-weighted and diffusion tensor imaging. The patients' intelligence quotient (IQ) and CTG repeat size were measured in each individual. RESULTS: Cortical thickness was significantly reduced in the frontal, temporal, and occipital cortices, while tract-based spatial statistics showed decreased diffusion metrics in widespread areas, including the bilateral orbitofrontal, anterior frontal, insular, external capsule, and occipital cortices in DM1 patients, compared to controls. Additionally, thickness was negatively correlated with the number of CTG repeats in those areas. White matter integrity was negatively correlated with CTG repeats in the left entorhinal, anterior corona radiata, orbitofrontal, and lateral occipital areas. No statistically significant correlation was found between IQ scores and the size of CTG repeats. CONCLUSION: Our results suggest that DM1 is associated with wide distributions of network changes in both gray and white matter. Some of areas related to cognition showed significant correlations with CTG repeats.

Electrophysiological characteristics of R47W and A298T mutations in CLC-1 of myotonia congenita patients and evaluation of clinical features

Myotonia congenita (MC) is a genetic disease that displays impaired relaxation of skeletal muscle and muscle hypertrophy. This disease is mainly caused by mutations of CLCN1 that encodes human skeletal muscle chloride channel (CLC-1). CLC-1 is a voltage gated chloride channel that activates upon depolarizing potentials and play a major role in stabilization of resting membrane potentials in skeletal muscle. In this study, we report 4 unrelated Korean patients diagnosed with myotonia congenita and their clinical features. Sequence analysis of all coding regions of the patients was performed and mutation, R47W and A298T, was commonly identified. The patients commonly displayed transient muscle weakness and only one patient was diagnosed with autosomal dominant type of myotonia congenita. To investigate the pathological role of the mutation, electrophysiological analysis was also performed in HEK 293 cells transiently expressing homo- or heterodimeric mutant channels. The mutant channels displayed reduced chloride current density and altered channel gating. However, the effect of A298T on channel gating was reduced with the presence of R47W in the same allele. This analysis suggests that impaired CLC-1 channel function can cause myotonia congenita and that R47W has a protective effect on A298T in relation to channel gating. Our results provide clinical features of Korean myotonia congenita patients who have the heterozygous mutation and reveal underlying pathophyological consequences of the mutants by taking electrophysiological approach.

Heart Disease in Disorders of Muscle, Neuromuscular Transmission, and the Nerves

Little is known regarding cardiac involvement (CI) by neuromuscular disorders (NMDs). The purpose of this review is to summarise and discuss the major findings concerning the types, frequency, and severity of cardiac disorders in NMDs as well as their diagnosis, treatment, and overall outcome. CI in NMDs is characterized by pathologic involvement of the myocardium or cardiac conduction system. Less commonly, additional critical anatomic structures, such as the valves, coronary arteries, endocardium, pericardium, and even the aortic root may be involved. Involvement of the myocardium manifests most frequently as hypertrophic or dilated cardiomyopathy and less frequently as restrictive cardiomyopathy, non-compaction, arrhythmogenic right-ventricular dysplasia, or Takotsubo-syndrome. Cardiac conduction defects and supraventricular and ventricular arrhythmias are common cardiac manifestations of NMDs. Arrhythmias may evolve into life-threatening ventricular tachycardias, asystole, or even sudden cardiac death. CI is common and carries great prognostic significance on the outcome of dystrophinopathies, laminopathies, desminopathies, nemaline myopathy, myotonias, metabolic myopathies, Danon disease, and Barth-syndrome. The diagnosis and treatment of CI in NMDs follows established guidelines for the management of cardiac disease, but cardiotoxic medications should be avoided. CI in NMDs is relatively common and requires complete work-up following the establishment of a neurological diagnosis. Appropriate cardiac treatment significantly improves the overall long-term outcome of NMDs.

Phenotypic Difference of CLCN1 Gene Variant (A313T) in a Korean Family with Myotonia Congenita

Myotonia congenita (MC) is a hereditary disease of the chloride channels of skeletal muscle caused by mutation of CLCN1. It characteristically manifests as delayed relaxation of the skeletal muscle or myotonia. It has a wide phenotypic variability, ranging from asymptomatic to severe disability. However, it is uncommon for a phenotypic difference to appear within a family. We report the first Korean family with the p.A313T mutation exhibiting marked phenotypic variability.

Bilateral Adduction Palsy in a Patient with Myotonic Dystrophy Type 1

Myotonic dystrophy type 1 (DM1) is caused by CTG repeat expansion in the DMPK gene in chromosome 19q13.3. External ophthalmoplegia is a rare manifestation in DM1. We report a DM1 patient confirmed by the presence of 650 CTG triplet expansions in the DMPK gene and had limitation of adduction gaze bilaterally. Brain MRI showed bilateral medial rectus muscles atrophy. Our patient provides additional evidence of ocular motor muscle involvement in DM1.

A Large Dominant Myotonia Congenita Family with a V1293I Mutation in SCN4A

No abstract available.

Atuação fisioterapêutica pré-operatória no paciente com miotonia de Thomsen: relato de caso / Performance preoperative physiotherapy in patients with myotonia Thomsen: case report

Introdução: A doença de Thomsen e de Becker são as miotonias congênitas mais prevalentes. De acordo com a literatura atual a sua freqüência é de 1:100000 pessoas, a miotonia de Thomsen é caracterizada por ser uma autossômica dominante e a de Becker é autossômica recessiva. Objetivo: Descrever a intervenção fisioterapêutica pré-operatória no paciente com Miotonia de Thomsen. Relato de caso: Paciente do sexo feminino, DLS, 14 anos de idade, raça branca, natural da cidade de São Paulo, diagnosticada com dois anos de vida como portadora de Miotonia de Thomsen. Acompanhada pelo grupo de coluna da Irmandade Santa casa de Misericórdia de São Paulo, de acordo com o seu crescimento e evolução do quadro álgico e limitações nas atividades de vida diária e foi encaminhada para o grupo de fisioterapia da IMSC-SP. Foi realizada avaliação da amplitude de movimento com flexímetro, aplicação do escore de qualidade de vida SF-36 e avaliação da dor EVA. Resultados: Após 12 sessões de fisioterapia a amplitude de movimento Flexão (95º), Extensão (30º), ambos os ângulos foram mantidos, (EVA=2) e de acordo com o SF-36 a paciente apresentou aumento do escore confirmando a melhora da qualidade de vida. Conclusão: A fisioterapia se mostrou eficaz estabilizando a amplitude de movimento, melhora da dor e qualidade de vida de acordo com o questionário SF-36 estabilizando o quadro clínico necessário para cirurgia.

Introduction: Thomsen's and Becker are the most prevalent congenital myotonias. According to the current literature is the frequency of 1:1000000 people, Thomsen myotonia is characterized as an autosomal dominant and autosomal recessive Becker is. Objective: to describe the prooperative physiotherapeutic inteventions in patients with Myotonia of Thomsen. Case report: A female patient, DLS, 14 years old, born in the city of São Paulo, diagnosed with two years of life as having Myotonia of Thomsen white race. Accompanied by Spine Group of the Santa Casa de Misericórdia de São Paulo, according to their growth and evolution of the hypertonic scenario was diagnosed with postural alteration of neuromuscular scoliosis structural type, developed a strong and painful picture limitations in activities of daily living and was referred to the physiotherapy group of IMSC-SP. Assessment of range of motion with fleximeter, application score the SF-36 and VAS pain evaluation was performed. Results: After 12 sessions of physiotherapy range of flexion (95º), extension (30º), both angles were kept (EVA=2) and move according to the SF-36 the patient had higher scores confirming the improved quality of life. Conclusion: The therapy was effective stabilizing range of motion, pain relief and quality of life according to the SF-36 questionnaire stabilizing the clinical picture needed for surgery.

Epidural anesthesia for a lumbar discectomy in a patient with paramyotonia congenita: A case report

Paramyotonia congenita is a rare hereditary skeletal muscle disease characterized by exercise- or cold-induced myotonia. Anesthesiologists should make any efforts to prevent perioperative myotonic attack and muscle weakness in patients with this kind of disorder. Specifically, the administration of depolarizing muscle relaxants should be avoided and serum potassium level as well as body temperature should be carefully managed. The present report describes our experiences with successful epidural anesthesia in a patient with paramyotonia congenita who underwent a lumbar discectomy.

Doenças hereditárias e defeitos congênitos diagnosticados em búfalos (Bubalus bubalis) no Brasil / Hereditary diseases and congenital defects diagnosed in water buffalo (Bubalus bubalis) in Brazil

A review on hereditary diseases and/or congenital defects diagnosed in water buffaloes in Brazil is performed. The epidemiological, clinical and pathological aspects of each disease or group of diseases are briefly described. Hereditary diseases include acantholytic mechanobullous dermatosis, arthrogryposis, myotonia, hydranencephaly, chondrodysplasia, and albinism. Congenital defects of unknown cause include megaesophagus, heart defects (patent ductus arteriosus), dermatosparaxia, and different defects of the reproductive system. The breeds most affected by genetic diseases are those from Asian Continent (Murrah and Jafarabadi), probably as a result of inbreeding in Brazilian herds due the prohibition of importation of breeding buffalo from that continent. The diagnosis of two hereditary diseases, arthrogryposis and myotonia, in Rio Grande do Sul (southern Brazil) and Pará (nothern Brazil) suggests that the undesirable genes are widespread in the buffalo population. The identification of these genes by molecular techniques associated with the buffalo breeding with correct sanitary, zootechnical, and reproductive control practices can decrease the negative effects of genetic diseases in the Brazilian buffalo herd.

É realizada uma revisão sobre as doenças hereditárias e/ou defeitos congênitos diagnosticados em búfalos no Brasil. São descritos brevemente os aspectos epidemiológicos, clínicos e patológicos de enfermidades hereditárias ou provavelmente hereditárias já observadas no Brasil, como dermatose mecanobolhosa, artrogripose, miotomia, hidranencefalia, condrodisplasia e albinismo; e dos defeitos congênitos que não tem uma causa ainda comprovada como megaesôfago, defeitos cardíacos (persistência do ducto arterioso), dermatosparaxia, defeitos no sistema reprodutivo e outros defeitos. Observou-se que as raças mais afetadas por enfermidades de natureza genética são as que têm origem no Continente Asiático (Murrah e Jafarabadi), provavelmente em consequência da consanguinidade existente nos rebanhos devido a proibição da importação de reprodutores, sêmen e embriões daquele continente. O diagnóstico de duas dessas doenças, artrogripose e miotomia hereditária no Rio Grande do Sul e no Pará, demonstra que os genes indesejáveis estão disseminados na população de búfalos no país e que a identificação desses genes por meio de técnicas moleculares associada à criação desta espécie com maior controle sanitário, reprodutivo e zootécnico pode minimizar os prejuízos decorrentes dessas enfermidades à bubalinocultura.

Miomectomía endoscópica del divertículo esofágico de Zenker: técnica modificada / Myomectomy endoscopic of Zenker’s esophageal diverticulum: modified technique

El divertículo de Zenker, también llamado divertículo faringoesofágico, es un tipo de divertículo de la mucosa de la faringe, que se ubica en la parte superior del músculo cricofaríngeo, es decir, por encima del esfínter esofágico superior. Es un falso divertículo en el sentido que no compromete todas las capas de la pared faríngea. Los mecanismos de formación aunque controversiales son por pulsión y tracción. Los divertículos de Zenker pueden causar halitosis, regurgitación de alimento no digerido, disfagia orofaríngea e incluso una obstrucción completa por compresión. Como complicaciones puede provocar broncoaspiración, formación de fístulas entre el divertículo y la tráquea, hemorragia intradiverticular y más raro, carcinoma epidermoide dentro del divertículo. Una serie esofágica con trago de bario normalmente detecta el divertículo. El tratamiento establecido del divertículo de Zenker consiste en la miotomía quirúrgica del músculo cricofaríngeo asociada a diverticulectomía o diverticulopexia y, como alternativa, la diverticulostomía o miomectomía endoscópica. El objetivo del presente estudio es presentar un caso clínico, describir el procedimiento endoscópico usando cápsula distal acrílica dentada y disección de capas posterior a esclerosis de solución de adrenalina. Se presentan fotos de este procedimiento que ofrece más firmeza en el corte porque evita el desplazamiento de la punta del endoscopio, ningún sangrado, mejor exposición de las capas musculares y mejor visibilidad para el corte. Debe ser validada con una serie de casos

Zenker's diverticulum, also called pharyngoesophageal diverticulum, is a type of diverticulum of the mucosa of the pharynx, which is located at the top of the cricopharyngeal muscle, ie above the upper esophageal sphincter. It is a false diverticulum in the sense that it undertakes all layers of the pharyngeal wall. The formation mechanisms are controversial even drive and traction. Zenker diverticula can cause halitosis, regurgitation of undigested food, oropharyngeal dysphagia and even complete obstruction by compression. As complications may cause aspiration, fistula formation between the diverticulum and trachea, hemorrhage and rarest intradiverticular, epidermoid carcinoma in the diverticulum. A number esophageal barium swallow normally detects the diverticulum. The established treatment of Zenker's diverticulum is surgical myotomy of the cricopharyngeal muscle associated with diverticulectomy or diverticulopexy and, alternatively, the diverticulostomía or The objective of this study is to present a case, describe the endoscopic procedure using acrylic capsule toothed distal dissection layers sclerosis after epinephrine solution. We present photo of this procedure provides more firmly in the court because it prevents the displacement of the endoscope puna, no bleeding, better exposure of the muscle layers, and better visibility for cutting. Validity must be a number of cases

Schwartz-Jampel Syndrome: a paediatric dentistry approach / Síndrome de Schwartz-Jampel: uma abordagem odontopediátrica

Schwartz-Jampel syndrome (SJS) is a rare recessive disorder characterized mainly by myotonia. As the clinical signs and symptoms are manifested in the oromaxillofacial region, paediatric dentists may be first choice of parents that seek information and assistance to their children. A female patient diagnosed with SJS was brought to our clinic for dental treatment with main complain of difficulty on oral hygiene and mastication due to tooth crowding. The treatment included preventive measures, extraction of a supernumerary tooth and the maxillary primary second molars. Furthermore, the patient was referred to orthodontic treatment for correction of tooth crowding. When dealing with children with confirmed diagnosis of SSJ, paediatric dentists should be understand the need of planning the dental treatment considering the characteristics and possible complications associated with the syndrome in order to reduce the risks to patients, especially when surgical procedures are necessary

A síndrome de Schwartz Jampel (SSJ) é uma desordem autossômica recessiva rara, caracterizada principalmente pela miotonia. Desde que alguns dos sinais clínicos e sintomas são manifestados na região oromaxilofacial, o odontopediatra pode ser o primeiro profissional a se deparar com um paciente portador desta síndrome. Um paciente do sexo feminino diagnosticado com SJS procurou a nossa clínica para tratamento dental com queixa principal de dificuldade na realização da higiene oral e mastigação, devido ao mau posicionamento dentário. O tratamento incluiu medidas preventivas, extração de um dente supranumerário e dos segundos molares decíduos e encaminhamento para tratamento ortodôntico. Quando uma criança possui o diagnóstico confirmado para SSJ, o odontopediatra deve ter conhecimento específico para planejar e realizar o tratamento odontológico de forma adequada, considerando as características da síndrome e as possíveis complicações associadas, a fim de reduzir os riscos ao paciente, especialmente quando procedimentos cirúrgicos são necessários.

One in three: congenital bent bone disease and intermittent hyperthermia in three siblings with Stuve-Wiedemann syndrome

Stuve-Wiedemann syndrome [STWS] is a rare disorder characterised by congenital bowing of the long bones, contractures of the joints, neonatal onset of respiratory distress, sucking and swallowing difficulties, dysautonomia presenting as episodic hyperthermia, and usually an early death. Three siblings from a consanguineous marriage presented with similar clinical features over 16 years. STWS was established with their last child at the beginning of 2012. All the children exhibited the onset of STWS in the neonatal period with fever and generalised hypotonia. Examinations of all the infants revealed camptodactyly, micrognathia, bent long bones with wide metaphyses, and hypotonia. Only the second affected child had myotonia, demonstrated by electromyography. Unusual pyrexia as a presenting feature in this syndrome needs early recognition so that extensive and elaborate investigations can be avoided. The disorder is usually caused by a mutation in the leukaemia inhibitory factor receptor gene

The Coexistence of Myasthenia Gravis and Myotonic Dystrophy Type 2 in a Single Patient

BACKGROUND: Myasthenia gravis (MG) and myotonic dystrophy type 2 (DM2) are rare disorders individually, and their coexistence in the same patient is very rare. We present a patient in which these two diseases coexisted. CASE REPORT: The patient complained of diplopia, fluctuating limb weakness, and difficulties in swallowing and speaking. A neurological examination revealed diplopia, facial, weakness of the neck and proximal limb muscles, dysphagia, dysphonia, and myotonia. The patient's mother had DM2 and her maternal grandfather had cataracts. MG was confirmed in our patient by positive results for neostigmine and a repetitive nerve stimulation test, and elevated serum anti-acetylcholine-receptor antibodies, while DM2 was confirmed by electromyography and genetic testing. The patient improved remarkably after treatment with anticholinesterases, corticosteroids, and azathioprine. CONCLUSIONS: This is the second reported case of the coexistence of DM2 and MG in the same patient. Since the symptoms of these two diseases overlap it is very important to keep in mind the possibility of their coexistence, so that MG is not overlooked in patients with a family history of myotonic dystrophy.

Miotonía de Thomsen y embarazo, manejo anestésico: reporte de un caso / Myotonia of Thomsen and pregnancy, anesthetic management: a case report

La miotonía de Thomsen es una enfermedad autosómica dominante que consiste en una marcada hipertrofia muscular a predominio en miembros superiores, que se encuentra asociada a una alteración en los canales de cloruro que intervienen en el potencial de acción del músculo esquelético, dicha enfermedad ha sido vinculada con complicaciones anestésicas como episodios de hipertermia maligna. Se presenta el caso de una paciente de 20 años, IIG, IC, con embarazo de 38 semanas, y diagnóstico de miopatía de Thomsen para resolución obstétrica electiva por vía alta. Se discuten los aspectos clínicos de la enfermedad y su manejo anestésico

Thomsen myotonia is a autosomal dominant disease which consists in marked muscular hypertrophy with dominance in the upper limbs associated with disturbance in the chloride channels involved in the skeletal muscle action potential. This disease has been linked with anesthetic complications such as malignant hyperthermia episodes. Is a patient of 20 years old, IIG, IC, with 38 weeks pregnancy, and diagnosis of myopathy of Thomsen for elective obstetrical resolution by cesarean section. The clinical aspects of the disease and its anaesthetic management are discussed