The diagnosis and treatment of myotonic disorders

Heatwole, Chad; Statland, Jeffrey; Logigian, Eric L.

doi:10.1002/mus.23683

Cited by 67 publications

(66 citation statements)

References 134 publications

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“…Cramps usually arise from spontaneous discharges of the motor nerves, whereas myotonia is caused by skeletal muscle fiber hyperexcitability chiefly due to ion channel dysfunction and the eventual imbalance between chloride and potassium conductance [13]. Since our electrophysiological studies and cooling test showed no signs of myotonia, neurogenic cramps might present as a myotonia-like symptom in the present patient.…”

Section: Discussionmentioning

confidence: 55%

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Myotonia-like symptoms in a patient with spinal and bulbar muscular atrophy

Araki

Nakanishi

Nakamura

et al. 2015

Neuromuscular Disorders

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Section: Discussionmentioning

confidence: 55%

“…The myotonic potentials that underlie this symptom are caused by muscle membrane hyperexcitability [11,12]. In contrast, myotonia-like symptoms without electrical myotonia may result from neurogenic or myogenic diseases [13].…”

Section: Introductionmentioning

confidence: 99%

Myotonia-like symptoms in a patient with spinal and bulbar muscular atrophy

Araki

Nakanishi

Nakamura

et al. 2015

Neuromuscular Disorders

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“…Patients with clinical and electrical myotonia can be further subdivided into dystrophic and nondystrophic myotonia. 10 Patients with dystrophic myotonia (myotonic dystrophy type 1 and myotonic dystrophy type 2) usually have progressive muscle weakness and abnormal muscle histology. Myotonic dystrophy type 2 has not been encountered in children.…”

Section: Discussionmentioning

confidence: 99%

“…Alternatively, myotonic discharges are often associated with myopathic motor unit potentials in various primary muscle disorders (ie, muscular dystrophies, myotonic dystrophy type 1 and 2, myofibrillar myopathies, metabolic myopathies, inflammatory myopathies, drug-induced myopathies, and endocrine myopathies). 10,11 In children with muscle disorders, the incidence of electrical myotonia reported in a single study was 0.85% (19 of 2234 EMGs). 12 In this study, authors found that the disorders associated with myotonic discharges without myopathic motor unit potentials were myotonia congenita, paramyotonia congenita, congenital myopathy, and Pompe disease.…”

mentioning

confidence: 99%

Use of Clinical and Electrical Myotonia to Differentiate Childhood Myopathies

Ghosh

Sorenson

2015

J Child Neurol

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We retrospectively reviewed 2030 childhood electromyograms performed over an 11-year period (2004-2014). Twenty children (1%) with myotonic discharges were identified and placed into 2 groups. Group A (electrical and clinical myotonia) comprised 9 children (8 with myotonia congenita and 1 with paramyotonia congenita); all of them had diffuse myotonic discharges without clinical weakness or elevated creatine kinase. Group B (electrical myotonia without clinical myotonia) comprised 11 children (4 with inflammatory myopathy; 3, congenital myopathy, 3, muscular dystrophy; and 1, congenital muscular dystrophy). Clinical weakness was demonstrated in all of them and elevated creatine kinase in 6; all had a myopathic electromyogram and scattered myotonic discharges. We conclude that myotonic discharges are a rare but characteristic spontaneous discharge identified during electrodiagnostic studies in children. The presence of electrical and clinical myotonia provides helpful clues to differentiate between various muscle disorders in children.

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“…Existen una gran variedad de opciones farmacológicas para atenuar los síntomas y encontrar una posible cura. Una de ellas es la mixiletina, un medicamento antiarrítmico clase Ib que actúa como bloqueador de los canales de sodio, la cual se ha surgido como terapia de primera línea para el alivio de la miotonía sintomática incapacitante en los trastornos miotónicos distróficos y no distróficos [10][11]. También hay estudios sobre el desarrollo artificial de sitios específicos de ARN endonucleasas (ASRE) que se unen a las repeticiones del ARN en pacientes con DM1 y degradan específicamente los ARN mensajeros patógenos del gen DMPK [12]; algunos trabajos su gi ere n l a i nh ibic ión de l a inte racc ión tóxic a del MBNL-1 (CUG exp) utilizando un inhibidor de unión de ranura de ARN conocido como ligando 3 [13].…”

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Esperdimina como agente inhibidor de la proteína de la distrofia muscular miotónica tipo 1 (MBNL‐1) empleando química computacional

Terrones

2017

TEC

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RESUMENLa Espermidina es un poliamina que podemos encontrar en frutas, verduras, productos cárnicos y lácteos; además de ser conocida por su papel modulador de funciones del ADN, ARN, nucleótidos trifosfatos y proteínas. Según, estudios experimentales recientes demostraron que cumple una función inhibitoria sobre la proteína relacionada con la patogénesis de la distrofia miotónica tipo 1 (MBNL-1) dando luces a esta enfermedad aun sin cura; sin embargo, estos estudios no han proporcionado suficientes datos para aclarar su capacidad inhibitoria. En este trabajo se comprobó la interacción existente entre la espermidina y la proteína MBNL-1 mediante química computacional. El análisis mediante el uso de mecánica cuántica (QM) se llevó a cabo con la funcional CAM-B3LYP usando un set de base TZVP. En relación a la mecánica molecular (MM) se utilizó un campo de fuerza OPLS-aa, seguidamente se realizó una solvatación de la proteína MBNL-1 estabilizándose en menos de 0.3nm. Se empleó un ensamble canónico NVT donde la temperatura, número de moles y volumen permanecieron constantes asemejando así la simulación a una temperatura fisiológica a la del ser humano. Adicionalmente, el análisis de Ramachandran permitió validar la estructura la cual se conservó a través del tiempo (100ns) obteniendo un 98.4% de certeza. Finalmente quedó demostrado que la interacción in silico de la espermidina-MBNL-1 fue tan semejante como la interacción reportada in vivo e in vitro.Palabras Clave: Agente inhibidor, distrofia miotónica tipo 1, espermidina, mecánica cuántica, mecánica molecular, química computacional. ABSTRACTSpermidine is a polyamine compound found in fruits, vegetables, meats and milk products. It is also known for its role as a modulator of functions for DNA, RNA, nucleotide triphosphates and proteins. Some recent experimental studies have shown that it has an inhibitory function on the protein related to the pathogenesis of myotonic dystrophy type 1 (MBNL-1), providing some hope in relation to this disease presently without cure. However these studies have not provided sufficient information to explain its inhibitory role. In the present work, the existing interaction between spermidine and the MBNL-1 protein has been confirmed by computational chemistry. The quantum mechanics analysis was carried out with the CAM-B3LYP density functional, using a TZVP basis set. For the molecular mechanics, the OPLS-AA force field was used, followed immediately by the solvation of the MBNL-1 protein, which stabilized at less than 0.3 nm. As an NVT canonical ensemble (constant volume, temperature and number of moles) was used, the process can simulate what is happening at the physiological temperature of a human body. Furthermore, a Ramachandran analysis allowed the validation of the structure, which was preserved through time (100 ns), at a 98.4 % confidence level. It was therefore demonstrated that the in silico interaction between spermidine and the MBNL-1 protein was similar to the reported interactions in vivo and in vitro.

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The diagnosis and treatment of myotonic disorders

Cited by 67 publications

References 134 publications

Myotonia-like symptoms in a patient with spinal and bulbar muscular atrophy

Myotonia-like symptoms in a patient with spinal and bulbar muscular atrophy

Use of Clinical and Electrical Myotonia to Differentiate Childhood Myopathies

Esperdimina como agente inhibidor de la proteína de la distrofia muscular miotónica tipo 1 (MBNL‐1) empleando química computacional

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