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[PMID]:29188980
[Au] Autor:Partanen J; Isohanni P; Auranen M
[Ti] Título:Myotonia in ion channel diseases of muscle.
[So] Source:Duodecim;132(19):1810-4, 2016.
[Is] ISSN:0012-7183
[Cp] País de publicação:Finland
[La] Idioma:eng
[Ab] Resumo:Ion channel dysfunctions of the muscular cell membrane are usually inheritable, rare diseases. They may become manifest as relatively mild symptoms of muscle stiffness and pain, myotonia or paralysis. We describe two young patients who had an inherited ion channel disease of the muscular cell membrane with mild symptoms. The first patient had a chloride channel dysfunction of the muscular cell membrane, the second one a sodium channel dysfunction. In electromyography findings typical of the respective ion channel disease were detected in both patients. Closer examination of the patients' myotonic sequences occurring in electromyography of the relaxed muscle revealed differences that already enable the evaluation of the type of ion channel disease.
[Mh] Termos MeSH primário: Canais de Cloreto/genética
Miotonia Congênita/diagnóstico
Miotonia Congênita/genética
Canais de Sódio/genética
[Mh] Termos MeSH secundário: Adolescente
Eletromiografia
Seres Humanos
Masculino
Miotonia Congênita/fisiopatologia
Adulto Jovem
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Chloride Channels); 0 (Sodium Channels)
[Em] Mês de entrada:1801
[Cu] Atualização por classe:180108
[Lr] Data última revisão:
180108
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171201
[St] Status:MEDLINE


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[PMID]:29050397
[Au] Autor:Andersen G; Hedermann G; Witting N; Duno M; Andersen H; Vissing J
[Ad] Endereço:Department of Neurology, Copenhagen Neuromuscular Center, University of Copenhagen, Denmark.
[Ti] Título:The antimyotonic effect of lamotrigine in non-dystrophic myotonias: a double-blind randomized study.
[So] Source:Brain;140(9):2295-2305, 2017 Sep 01.
[Is] ISSN:1460-2156
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Mexiletine is the only drug with proven effect for treatment of non-dystrophic myotonia, but mexiletine is expensive, has limited availability and several side effects. There is therefore a need to identify other pharmacological compounds that can alleviate myotonia in non-dystrophic myotonias. Like mexiletine, lamotrigine is a sodium channel blocker, but unlike mexiletine, lamotrigine is available, inexpensive, and well tolerated. We investigated the potential of using lamotrigine for treatment of myotonia in patients with non-dystrophic myotonias. In this, randomized double-blind, placebo-controlled, two-period cross-over study, we included adult outpatients recruited from all of Denmark with clinical myotonia and genetically confirmed myotonia congenita and paramyotonia congenita for investigation at the Copenhagen Neuromuscular Center. A pharmacy produced the medication and placebo, and randomized patients in blocks of 10. Participants and investigators were all blinded to treatment until the end of the trial. In two 8-week periods, oral lamotrigine or placebo capsules were provided once daily, with increasing doses (from 25 mg, 50 mg, 150 mg to 300 mg) every second week. The primary outcome was a severity score of myotonia, the Myotonic Behaviour Scale ranging from asymptomatic (score 1) to invalidating myotonia (score 6), reported by the participants during Weeks 0 and 8 in each treatment period. Clinical myotonia was also measured and side effects were monitored. The study was registered at ClinicalTrials.gov (NCT02159963) and EudraCT (2013-003309-24). We included 26 patients (10 females, 16 males, age: 19-74 years) from 13 November 2013 to 6 July 2015. Twenty-two completed the entire study. One patient withdrew due to an allergic reaction to lamotrigine. Three patients withdrew for reasons not related to the trial intervention. The Myotonic Behaviour Scale at baseline was 3.2 ± 1.1, which changed after treatment with lamotrigine by 1.3 ± 0.2 scores (P < 0.001), but not with placebo (0.2 ± 0.1 scores, P = 0.4). The estimated effect size was 1.0 ± 0.2 (95% confidence interval = 0.5-1.5, P < 0.001, n = 22). The standardized effect size of lamotrigine was 1.5 (confidence interval: 1.2-1.8). Number needed to treat was 2.6 (P = 0.006, n = 26). No adverse or unsuspected event occurred. Common side effects occurred in both treatment groups; number needed to harm was 5.2 (P = 0.11, n = 26). Lamotrigine effectively reduced myotonia, emphasized by consistency between effects on patient-related outcomes and objective outcomes. The frequency of side effects was acceptable. Considering this and the high availability and low cost of the drug, we suggest that lamotrigine should be used as the first line of treatment for myotonia in treatment-naive patients with non-dystrophic myotonias.
[Mh] Termos MeSH primário: Miotonia Congênita/tratamento farmacológico
Transtornos Miotônicos/tratamento farmacológico
Triazinas/uso terapêutico
[Mh] Termos MeSH secundário: Adulto
Idoso
Estudos Cross-Over
Relação Dose-Resposta a Droga
Método Duplo-Cego
Feminino
Seres Humanos
Masculino
Meia-Idade
Resultado do Tratamento
Triazinas/efeitos adversos
Bloqueadores do Canal de Sódio Disparado por Voltagem/efeitos adversos
Bloqueadores do Canal de Sódio Disparado por Voltagem/uso terapêutico
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE; RANDOMIZED CONTROLLED TRIAL
[Nm] Nome de substância:
0 (Triazines); 0 (Voltage-Gated Sodium Channel Blockers); U3H27498KS (lamotrigine)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171030
[Lr] Data última revisão:
171030
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:171021
[St] Status:MEDLINE
[do] DOI:10.1093/brain/awx192


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[PMID]:28872460
[Au] Autor:Papizan JB; Garry GA; Brezprozvannaya S; McAnally JR; Bassel-Duby R; Liu N; Olson EN
[Ti] Título:Deficiency in Kelch protein Klhl31 causes congenital myopathy in mice.
[So] Source:J Clin Invest;127(10):3730-3740, 2017 Oct 02.
[Is] ISSN:1558-8238
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Maintenance of muscle structure and function depends on the precise organization of contractile proteins into sarcomeres and coupling of the contractile apparatus to the sarcoplasmic reticulum (SR), which serves as the reservoir for calcium required for contraction. Several members of the Kelch superfamily of proteins, which modulate protein stability as substrate-specific adaptors for ubiquitination, have been implicated in sarcomere formation. The Kelch protein Klhl31 is expressed in a muscle-specific manner under control of the transcription factor MEF2. To explore its functions in vivo, we created a mouse model of Klhl31 loss of function using the CRISPR-Cas9 system. Mice lacking Klhl31 exhibited stunted postnatal skeletal muscle growth, centronuclear myopathy, central cores, Z-disc streaming, and SR dilation. We used proteomics to identify several candidate Klhl31 substrates, including Filamin-C (FlnC). In the Klhl31-knockout mice, FlnC protein levels were highly upregulated with no change in transcription, and we further demonstrated that Klhl31 targets FlnC for ubiquitination and degradation. These findings highlight a role for Klhl31 in the maintenance of skeletal muscle structure and provide insight into the mechanisms underlying congenital myopathies.
[Mh] Termos MeSH primário: Músculo Esquelético/metabolismo
Miotonia Congênita/genética
Miotonia Congênita/metabolismo
Fatores de Transcrição/deficiência
[Mh] Termos MeSH secundário: Animais
Filaminas/genética
Filaminas/metabolismo
Fatores de Transcrição MEF2/metabolismo
Camundongos
Camundongos Knockout
Músculo Esquelético/patologia
Miotonia Congênita/patologia
Fatores de Transcrição/metabolismo
Ubiquitinação
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Filamins); 0 (MEF2 Transcription Factors); 0 (Transcription Factors)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171019
[Lr] Data última revisão:
171019
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170906
[St] Status:MEDLINE


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[PMID]:28833464
[Au] Autor:Hawash AA; Voss AA; Rich MM
[Ad] Endereço:Department of Neuroscience, Cell Biology, and Physiology, Wright State University, Dayton, OH.
[Ti] Título:Inhibiting persistent inward sodium currents prevents myotonia.
[So] Source:Ann Neurol;82(3):385-395, 2017 Sep.
[Is] ISSN:1531-8249
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:OBJECTIVE: Patients with myotonia congenita have muscle hyperexcitability due to loss-of-function mutations in the ClC-1 chloride channel in skeletal muscle, which causes involuntary firing of muscle action potentials (myotonia), producing muscle stiffness. The excitatory events that trigger myotonic action potentials in the absence of stabilizing ClC-1 current are not fully understood. Our goal was to identify currents that trigger spontaneous firing of muscle in the setting of reduced ClC-1 current. METHODS: In vitro intracellular current clamp and voltage clamp recordings were performed in muscle from a mouse model of myotonia congenita. RESULTS: Intracellular recordings revealed a slow afterdepolarization (AfD) that triggers myotonic action potentials. The AfD is well explained by a tetrodotoxin-sensitive and voltage-dependent Na persistent inward current (NaPIC). Notably, this NaPIC undergoes slow inactivation over seconds, suggesting this may contribute to the end of myotonic runs. Highlighting the significance of this mechanism, we found that ranolazine and elevated serum divalent cations eliminate myotonia by inhibiting AfD and NaPIC. INTERPRETATION: This work significantly changes our understanding of the mechanisms triggering myotonia. Our work suggests that the current focus of treating myotonia, blocking the transient Na current underlying action potentials, is an inefficient approach. We show that inhibiting NaPIC is paralleled by elimination of myotonia. We suggest the ideal myotonia therapy would selectively block NaPIC and spare the transient Na current. Ann Neurol 2017;82:385-395.
[Mh] Termos MeSH primário: Potenciais de Ação/fisiologia
Músculo Esquelético/fisiopatologia
Miotonia Congênita/fisiopatologia
Canais de Sódio/fisiologia
[Mh] Termos MeSH secundário: Animais
Modelos Animais de Doenças
Camundongos
Contração Muscular/fisiologia
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Sodium Channels)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171027
[Lr] Data última revisão:
171027
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170824
[St] Status:MEDLINE
[do] DOI:10.1002/ana.25017


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[PMID]:28710329
[Au] Autor:Arnold WD; Kline D; Sanderson A; Hawash AA; Bartlett A; Novak KR; Rich MM; Kissel JT
[Ad] Endereço:From the Department of Neurology (W.D.A., A.S., A.B., J.T.K.), The Ohio State University Wexner Medical Center; Center for Biostatistics (D.K.), Department of Biomedical Informatics, The Ohio State University, Columbus; and Neuroscience, Cell Biology, and Physiology and Neurology (A.A.H., K.R.N., M.
[Ti] Título:Open-label trial of ranolazine for the treatment of myotonia congenita.
[So] Source:Neurology;89(7):710-713, 2017 Aug 15.
[Is] ISSN:1526-632X
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:OBJECTIVE: To determine open-label, pilot study whether ranolazine could improve signs and symptoms of myotonia and muscle stiffness in patients with myotonia congenita (MC). METHODS: Thirteen participants were assessed at baseline and 2, 4, and 5 weeks. Ranolazine was started after baseline assessment (500 mg twice daily), increased as tolerated after week 2 (1,000 mg twice daily), and maintained until week 4. Outcomes included change from baseline to week 4 in self-reported severity of symptoms (stiffness, weakness, and pain), Timed Up and Go (TUG), hand grip and eyelid myotonia, and myotonia on EMG. RESULTS: Self-reported severity of stiffness ( < 0.0001) and weakness ( < 0.01) was significantly improved compared with baseline. TUG and grip myotonia times were reduced ( = 0.03, = 0.01). EMG of the abductor digiti minimi and tibialis anterior showed significantly reduced myotonia duration ( < 0.001, < 0.01) at week 4. No participant discontinued ranolazine because of side effects. CONCLUSIONS: Ranolazine appeared to be well tolerated over a period of 4 weeks in individuals with MC, and ranolazine resulted in improvement of signs and symptoms of muscle stiffness. The findings of this study suggest that ranolazine should be investigated in a larger controlled study. CLASSIFICATION OF EVIDENCE: This study provides Class IV evidence that ranolazine improves myotonia in myotonia congenita.
[Mh] Termos MeSH primário: Fármacos Cardiovasculares/uso terapêutico
Miotonia Congênita/tratamento farmacológico
Ranolazina/uso terapêutico
[Mh] Termos MeSH secundário: Adolescente
Adulto
Idoso
Eletromiografia
Feminino
Seguimentos
Força da Mão
Seres Humanos
Masculino
Meia-Idade
Miotonia Congênita/fisiopatologia
Projetos Piloto
Autorrelato
Índice de Gravidade de Doença
Resultado do Tratamento
Adulto Jovem
[Pt] Tipo de publicação:CLINICAL TRIAL; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Cardiovascular Agents); A6IEZ5M406 (Ranolazine)
[Em] Mês de entrada:1708
[Cu] Atualização por classe:170825
[Lr] Data última revisão:
170825
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170716
[St] Status:MEDLINE
[do] DOI:10.1212/WNL.0000000000004229


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[PMID]:28552867
[Au] Autor:Yamamoto J; Hokkoku K; Hatanaka Y; Sakoda S; Yuan JH; Sonoo M
[Ad] Endereço:Department of Neurology, Teikyo University School of Medicine.
[Ti] Título:An unusual case of sodium channel myotonia with transient weakness upon initiating movements which is characteristic in Becker disease.
[So] Source:Rinsho Shinkeigaku;57(6):287-292, 2017 06 28.
[Is] ISSN:1882-0654
[Cp] País de publicação:Japan
[La] Idioma:jpn
[Ab] Resumo:We reported a 32-year-old man who was a sporadic case of myotonic syndrome with muscle stiffness or transient weakness of limbs upon initiating movements after rest. On examination, he showed painless myotonia with warm-up phenomenon, Hercules-like hypertrophic musculature and myotonic discharges in EMG. The clinical findings resembled to those of Becker disease rather than Thomsen disease. But electrodiagnosis suggested sodium channel myotonia instead of chloride channelopathy. Genetic testing detected a novel missense mutation (p.V1166A) in the SCN4A gene but not in the CLCN1 gene. Transient weakness upon initiating movements is usually observed in Becker disease but rare in Thomsen disease, which is not reported in sodium channel myotonia so far. He was probably the first case of sodium channel myotonia with transient weakness upon initiating movements, which was confirmed by 10 Hz repetitive nerve stimulation test as depolarization block.
[Mh] Termos MeSH primário: Eletrodiagnóstico
Movimento/fisiologia
Debilidade Muscular/diagnóstico
Miotonia Congênita/diagnóstico
[Mh] Termos MeSH secundário: Adulto
Eletromiografia
Testes Genéticos
Seres Humanos
Masculino
Debilidade Muscular/complicações
Debilidade Muscular/fisiopatologia
Mutação de Sentido Incorreto
Miotonia Congênita/complicações
Miotonia Congênita/genética
Miotonia Congênita/patologia
Miotonia Congênita/fisiopatologia
Canal de Sódio Disparado por Voltagem NAV1.4/genética
Estimulação Elétrica Nervosa Transcutânea
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (NAV1.4 Voltage-Gated Sodium Channel); 0 (SCN4A protein, human)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:171012
[Lr] Data última revisão:
171012
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170530
[St] Status:MEDLINE
[do] DOI:10.5692/clinicalneurol.cn-000980


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[PMID]:28202702
[Au] Autor:Engel AG; Redhage KR; Tester DJ; Ackerman MJ; Selcen D
[Ad] Endereço:From the Departments of Neurology and Muscle Research Laboratory (A.G.E., D.S.), Cardiovascular Diseases/Division of Heart Rhythm Services (A.G.E., D.S.), Pediatric and Adolescent Medicine/Division of Pediatric Cardiology (K.R.R., D.J.T., M.J.A.), and Molecular Pharmacology & Experimental Therap
[Ti] Título:Congenital myopathy associated with the triadin knockout syndrome.
[So] Source:Neurology;88(12):1153-1156, 2017 Mar 21.
[Is] ISSN:1526-632X
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:OBJECTIVE: Triadin is a component of the calcium release complex of cardiac and skeletal muscle. Our objective was to analyze the skeletal muscle phenotype of the triadin knockout syndrome. METHODS: We performed clinical evaluation, analyzed morphologic features by light and electron microscopy, and immunolocalized triadin in skeletal muscle. RESULTS: A 6-year-old boy with lifelong muscle weakness had a triadin knockout syndrome caused by compound heterozygous null mutations in triadin. Light microscopy of a deltoid muscle specimen shows multiple small abnormal spaces in all muscle fibers. Triadin immunoreactivity is absent from type 1 fibers and barely detectable in type 2 fibers. Electron microscopy reveals focally distributed dilation and degeneration of the lateral cisterns of the sarcoplasmic reticulum and loss of the triadin anchors from the preserved lateral cisterns. CONCLUSIONS: Absence of triadin in humans can result in a congenital myopathy associated with profound pathologic alterations in components of the sarcoplasmic reticulum. Why only some triadin-deficient patients develop a skeletal muscle phenotype remains an unsolved question.
[Mh] Termos MeSH primário: Arritmias Cardíacas/complicações
Arritmias Cardíacas/genética
Proteínas Musculares/deficiência
Miotonia Congênita
[Mh] Termos MeSH secundário: Proteínas de Transporte/genética
Criança
Eletrocardiografia
Seres Humanos
Masculino
Microscopia Eletrônica de Transmissão
Proteínas Musculares/genética
Músculo Esquelético/metabolismo
Músculo Esquelético/patologia
Músculo Esquelético/ultraestrutura
Mutação/genética
Miotonia Congênita/complicações
Miotonia Congênita/genética
Miotonia Congênita/patologia
Retículo Sarcoplasmático/patologia
Retículo Sarcoplasmático/ultraestrutura
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Carrier Proteins); 0 (Muscle Proteins); 0 (TRDN protein, human)
[Em] Mês de entrada:1705
[Cu] Atualização por classe:170522
[Lr] Data última revisão:
170522
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170217
[St] Status:MEDLINE
[do] DOI:10.1212/WNL.0000000000003745


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[PMID]:28056057
[Au] Autor:Zhong Y; Guo X; Xiao H; Luo J; Zuo C; Huang X; Huang J; Mi L; Zhang Q; Liu X
[Ad] Endereço:State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou, Guangdong, China.
[Ti] Título:Flat Anterior Chamber after Trabeculectomy in Secondary Angle-Closure Glaucoma with BEST1 Gene Mutation: Case Series.
[So] Source:PLoS One;12(1):e0169395, 2017.
[Is] ISSN:1932-6203
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:PURPOSE: Trabeculectomy has been regarded as a mainstay of initial treatment in eyes of angle closure glaucoma (ACG) with peripheral anterior synechia > 180° in the Chinese population while its efficacy in secondary ACG with BEST1 gene mutation remains unclear. We set out to investigate the treatment outcome of trabeculectomy for secondary ACG in a group of patients with autosomal recessive bestrophinopathy (ARB). METHODS: In this retrospective case series study, 8 secondary ACG patients with ARB and their 4 recruited family members underwent a thorough ophthalmic examination including best-corrected visual acuity, Goldmann applanation tonometry, gonioscopy, and fundus examinations. Ultrasound biomicroscopy, optical coherence tomography (OCT), ultrasound A-scan, B-scan, electro-oculography (EOG), Humphrey perimetry, fundus photography, fundus fluorescein angiography (FFA) and indocyanine green angiography (ICGA) were also performed. Blood samples were obtained in the patients and their available family members to analyze the variants of the BEST1 gene. Trabeculectomy was performed in the 8 patients (15 eyes). RESULTS: The age of onset varied from 13 to 38 years. The average axial length (AL) of the affected eyes was 21.82 ± 0.92 mm and the average anterior chamber depth (ACD) was 2.19 ± 0.29 mm. There was marked axial shallowing of the anterior chamber in all 15 eyes after trabeculectomy, and was not improved with potent mydriatics. The IOP was elevated in 3 eyes. Variable degree of yellowish subretinal deposits was observed in the posterior retina. The FFA showed punctuate or patched hyperfluorescence suggesting retinal pigment epithelium impairment. The ICGA demonstrated dilatation of choroidal vessels. The OCT revealed diffused neuroretinal detachment in the posterior and midperipheral retina, with intraretinal fluid collections, and hyperreflective subretinal accumulations. The average subfoveal choroidal thickness of the patients was 382.36 ± 80.09 µm. All the patients and enrolled family members carried mutation in BEST1 gene. CONCLUSIONS: ARB is a rare condition with fundus manifestations mimicking various diseases. Careful discrimination should be taken to exclude any secondary causes for ACG before treatment. Concerning the high incidence of postoperative shallow anterior chamber, selection of filtering surgery should be very careful in these patients.
[Mh] Termos MeSH primário: Canais de Cloreto/genética
Proteínas do Olho/genética
Glaucoma de Ângulo Fechado/genética
Glaucoma de Ângulo Fechado/cirurgia
Trabeculectomia/métodos
[Mh] Termos MeSH secundário: Adolescente
Adulto
Bestrofinas
Feminino
Glaucoma de Ângulo Fechado/patologia
Seres Humanos
Masculino
Mutação/genética
Miotonia Congênita/genética
Miotonia Congênita/patologia
Miotonia Congênita/cirurgia
Estudos Retrospectivos
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (BEST1 protein, human); 0 (Bestrophins); 0 (Chloride Channels); 0 (Eye Proteins)
[Em] Mês de entrada:1708
[Cu] Atualização por classe:171116
[Lr] Data última revisão:
171116
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170106
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pone.0169395


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[PMID]:28039888
[Au] Autor:Andersen G; Løkken N; Vissing J
[Ad] Endereço:Copenhagen Neuromuscular Center, Department of Neurology, Rigshospitalet, University of Copenhagen, 3342 Blegdamsvej 9, 2100, Denmark.
[Ti] Título:Aerobic training in myotonia congenita: Effect on myotonia and fitness.
[So] Source:Muscle Nerve;56(4):696-699, 2017 Oct.
[Is] ISSN:1097-4598
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:INTRODUCTION: Exercise has not been investigated in myotonia congenita (MC). We investigated whether regular aerobic training can reduce myotonia and improve fitness. METHODS: Untrained patients with MC (age: 24-62 years; n = 6) completed 28 ± 3 sessions of 30-minute cycle ergometer training at 75% of maximal capacity for 11 ± 1 weeks. Fitness was evaluated by maximal oxygen uptake. The level of myotonia was assessed by the Myotonia Behavior Scale, 14 step stair test, timed up and go test, and hand and eye closure-open tests. RESULTS: Training increased fitness by 9% (95% confidence interval [CI], 1-17%; P = 0.02) and maximal workload by 10% (95% CI, 3-18%; P = 0.03). None of the myotonia tests changed in a clinically meaningful way. CONCLUSIONS: Regular endurance training improves fitness and maximal workload performance in patients with MC. The lack of creatine kinase elevations indicates that muscle damage did not occur. Improved fitness, however, did not change myotonic symptoms in this small cohort. Muscle Nerve 56: 696-699, 2017.
[Mh] Termos MeSH primário: Terapia por Exercício/métodos
Exercício/fisiologia
Miotonia Congênita/terapia
Miotonia/terapia
Aptidão Física/fisiologia
[Mh] Termos MeSH secundário: Adulto
Feminino
Seguimentos
Seres Humanos
Masculino
Meia-Idade
Miotonia/fisiopatologia
Miotonia Congênita/fisiopatologia
Resistência Física/fisiologia
Resultado do Tratamento
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171009
[Lr] Data última revisão:
171009
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170101
[St] Status:MEDLINE
[do] DOI:10.1002/mus.25549


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[PMID]:28012042
[Au] Autor:Schartner V; Romero NB; Donkervoort S; Treves S; Munot P; Pierson TM; Dabaj I; Malfatti E; Zaharieva IT; Zorzato F; Abath Neto O; Brochier G; Lornage X; Eymard B; Taratuto AL; Böhm J; Gonorazky H; Ramos-Platt L; Feng L; Phadke R; Bharucha-Goebel DX; Sumner CJ; Bui MT; Lacene E; Beuvin M; Labasse C; Dondaine N; Schneider R; Thompson J; Boland A; Deleuze JF; Matthews E; Pakleza AN; Sewry CA; Biancalana V; Quijano-Roy S; Muntoni F; Fardeau M; Bönnemann CG; Laporte J
[Ad] Endereço:Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), 1, rue Laurent Fries, BP 10142, 67404, Illkirch, France.
[Ti] Título:Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy.
[So] Source:Acta Neuropathol;133(4):517-533, 2017 Apr.
[Is] ISSN:1432-0533
[Cp] País de publicação:Germany
[La] Idioma:eng
[Ab] Resumo:Muscle contraction upon nerve stimulation relies on excitation-contraction coupling (ECC) to promote the rapid and generalized release of calcium within myofibers. In skeletal muscle, ECC is performed by the direct coupling of a voltage-gated L-type Ca channel (dihydropyridine receptor; DHPR) located on the T-tubule with a Ca release channel (ryanodine receptor; RYR1) on the sarcoplasmic reticulum (SR) component of the triad. Here, we characterize a novel class of congenital myopathy at the morphological, molecular, and functional levels. We describe a cohort of 11 patients from 7 families presenting with perinatal hypotonia, severe axial and generalized weakness. Ophthalmoplegia is present in four patients. The analysis of muscle biopsies demonstrated a characteristic intermyofibrillar network due to SR dilatation, internal nuclei, and areas of myofibrillar disorganization in some samples. Exome sequencing revealed ten recessive or dominant mutations in CACNA1S (Ca 1.1), the pore-forming subunit of DHPR in skeletal muscle. Both recessive and dominant mutations correlated with a consistent phenotype, a decrease in protein level, and with a major impairment of Ca release induced by depolarization in cultured myotubes. While dominant CACNA1S mutations were previously linked to malignant hyperthermia susceptibility or hypokalemic periodic paralysis, our findings strengthen the importance of DHPR for perinatal muscle function in human. These data also highlight CACNA1S and ECC as therapeutic targets for the development of treatments that may be facilitated by the previous knowledge accumulated on DHPR.
[Mh] Termos MeSH primário: Canais de Cálcio/genética
Canais de Cálcio/metabolismo
Miotonia Congênita/genética
Miotonia Congênita/metabolismo
[Mh] Termos MeSH secundário: Adolescente
Adulto
Cálcio/metabolismo
Células Cultivadas
Criança
Estudos de Coortes
Família
Feminino
Seres Humanos
Masculino
Meia-Idade
Células Musculares/metabolismo
Células Musculares/patologia
Músculo Esquelético/diagnóstico por imagem
Músculo Esquelético/metabolismo
Músculo Esquelético/patologia
Mutação
Miotonia Congênita/diagnóstico por imagem
Miotonia Congênita/patologia
Fenótipo
Homologia de Sequência de Aminoácidos
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (CACNA1S protein, human); 0 (Calcium Channels); SY7Q814VUP (Calcium)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170912
[Lr] Data última revisão:
170912
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161225
[St] Status:MEDLINE
[do] DOI:10.1007/s00401-016-1656-8



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