A Syndrome of Continuous Muscle-Fibre Activity

Isaacs, H

doi:10.1136/jnnp.24.4.319

Cited by 377 publications

(170 citation statements)

References 7 publications

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“…A síndrome da atividade muscular contínua foi inicialmente descrita por Haim Isaacs, em 1961, em dois casos com fraqueza e rigidez muscular progressiva que apresentavam descargas generalizadas de PUM na EMG de agulha 1 . Em nosso meio o primeiro caso descrito foi de Levy e col. em 1965, em paciente com esclerodermia e atividade muscular contínua involuntária generalizada.…”

Section: Discussionunclassified

“…A síndrome de Isaacs caracteriza-se pela atividade muscular contínua involuntária (mioquímia clínica), atraso do relaxamento muscular, rigidez e aumento da sudorese [1][2][3][4][5] . Descargas espontâneas de potenciais de unidade motora (PUM) são os principais achados da eletromiografia (EMG) de agulha, observados como descargas mioquímicas ou neuromiotônicas generalizadas [6][7][8][9][10][11] .…”

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Síndrome de Isaacs: relato de três casos

Scola

Comerlato

Teive

et al. 1999

Arq. Neuro-Psiquiatr.

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RESUMO -Relatamos três casos de síndrome de Isaacs, que apresentavam mioquímia clínica, cãibras, dificuldades para o relaxamento muscular, hipertrofia muscular e aumento da sudorese. A eletromiografia de agulha mostrou atividade muscular contínua involuntária, caracterizada como descargas mioquímicas. Os estudos da condução nervosa foram normais. Biópsia de músculo, realizado nos três casos, mostrou atrofia de fibras do tipo 2. Dois casos apresentaram melhora clínica com a utilização de carbamazepina e um com prednisona. PALAVRAS-CHAVE: atividade muscular contínua involuntária, mioquímia, descarga mioquímica Isaacs' syndrome: report of three cases ABSTRACT -We report two females, and one male with Isaacs' syndrome. The patients presented with clinical myokymia activity, muscle cramps, delayed relaxation, and muscle hypertrophy and increased sweating. Needle electromyography in several muscles showed generalized continuous motor unit discharges, myokymic discharges, and normal nerve conduction studies. Muscle biopsy showed type two fiber atrophy. Treatment with carbamazepine was effective in two cases and prednisone in one.KEY WORDS: continuous motor fiber activity, myokymia, myokymic discharge.A síndrome de Isaacs caracteriza-se pela atividade muscular contínua involuntária (mioquímia clínica), atraso do relaxamento muscular, rigidez e aumento da sudorese 1-5 . Descargas espontâneas de potenciais de unidade motora (PUM) são os principais achados da eletromiografia (EMG) de agulha, observados como descargas mioquímicas ou neuromiotônicas generalizadas [6][7][8][9][10][11] . As descargas dos PUM ocorrem por alterações do estado de excitabilidade das porções terminais dos axônios motores, devido a ação de anticorpos, contra canais de potássio voltagem dependente (CKVD) [12][13][14][15][16] . Pela raridade desta doença relatamos os achados clínicos, laboratoriais, eletroneurofisioló-gicos de três casos de síndrome de Isaacs, afim de contribuir para a melhor compreensão dos fenômenos fisiológicos. RELATO DOS CASOSCaso 1. OVN, 40 anos, branca, iniciou os sintomas há 4 anos, durante o terceiro trimestre de gestação, com fraqueza da musculatura proximal de membros inferiores (MMII), cãibras e contrações musculares involuntárias contínuas generalizadas. Nega quadros semelhantes na família, contato com substâncias tóxicas e uso de medicações. Ao exame apresentava atrofia da musculatura distal, força muscular proximal de MMII e distal de membros superiores (MMSS) grau 4 + (Medical Research Council-MRC), hipertonia global, hiporreflexia profunda, fasciculações Serviço de Neurologia (Doenças

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Section: Discussionunclassified

unclassified

Síndrome de Isaacs: relato de três casos

Scola

Comerlato

Teive

et al. 1999

Arq. Neuro-Psiquiatr.

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“…Acquired neuromyotonia (NMT) is a disorder of spontaneous and continuous muscle fibre activity characterised by muscle stiffness, fasciculations, weakness and increased sweating (Isaacs 1961). It occurs due to motor nerve hyperexcitability and is associated with autoantibodies against VGKCs (Isaacs 1961;Newsom-Davis et al 1993).…”

Section: Acquired Neuromyotoniamentioning

confidence: 99%

“…It occurs due to motor nerve hyperexcitability and is associated with autoantibodies against VGKCs (Isaacs 1961;Newsom-Davis et al 1993). Using current assays, antibodies to the K V 1 family of VGKCs are detectable in 40% of patients with NMT (Hart et al 2002).…”

Section: Acquired Neuromyotoniamentioning

confidence: 99%

“…Of interest to this thesis the remaining three patients had GI diseae of oesophagus and / or colon. In the classical anti-VGKC-mediated diseases, such as neuromyotonia, GI features have not been especially reported (Isaacs 1961;Benatar 2000). However, anti-VGKC disorders are being increasingly recognised and three previous studies have described VGKC antibodies in relation to gut dysfunction.…”

Section: Significance and Interpretationsmentioning

confidence: 99%

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The role of humoral autoimmunity in gastrointestinal neuromuscular diseases

Hubball

Martin

Lang

et al. 2009

Progress in Neurobiology

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Dysfunction of the gastrointestinal neuromuscular apparatus (including interstitial cells ofCajal) is presumed to underlie a heterogeneous group of disorders collectively termed gastrointestinal neuromuscular diseases (GINMDs). Humoral (antibody)-mediated autoimmunity directed against ligand-or voltage-gated ion channels or associated proteins involved in neuromuscular transmission is associated with several acquired neuromuscular diseases of the periphery and is now implicated in an increasing number of less well-characterised diseases. Anti-channel antibodies have been reported in small numbers of patients with GINMD, particularly in those with GI dysfunction secondary to an underlying disease such as neoplasia or infection. However, little is known of humoral autoimmunity in primary GINMDs.This thesis investigated the association between anti-channel antibodies and GINMD, and the human GI tract as a potential target of anti-channel antibodies. The presence of antivoltage-and ligand-gated antibodies was investigated in the serum of patients with primary achalasia, enteric dysmotility and intestinal pseudo-obstruction, and in those with GINMD secondary to Chagas' disease. The functional effect of sera from some of these patients on colonic smooth muscle contractility was also characterised. Finally, the distribution of six voltage-gated potassium channels (VGKCs), which serve essential roles in the peripheral and central nervous systems and are known targets of pathological autoantibodies, were investigated in all layers of the human GI tract.Our findings suggest that currently recognised anti-channel antibodies are not a common pathogenic factor in primary GINMDs. Anti-channel antibodies, in particular anti-VGKC antibodies, were however found in a significant number of individuals with Chagas' disease. Furthermore, circulating factors in patients with chagasic GI disease altered GI smooth muscle contractility in vitro which may have pathological relevance to GI

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Stiff-Man Syndrome

Tarsy

Miyawaki²

1994

Arch Intern Med

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Stiff-man syndrome is a well-described, but rare and often overlooked, neuromuscular syndrome of rigidity, spasm, and gait abnormality that is associated with several endocrinologic and autoimmune disorders. A patient exhibiting many typical features of stiff-man syndrome had intermittent symptoms for 22 years before the correct diagnosis was made. Similar to many described patients, she was diabetic, hyperthyroid, and had elevated islet cell, antithyroid, and glutamic acid decarboxylase antibody levels. The high frequency of diabetes mellitus among patients with stiff-man syndrome is emphasized, as is increasing evidence to suggest that elaboration of anti-glutamic acid decarboxylase and anti-islet cell antibodies may play a role in the pathophysiologic state of the disorder.

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A Syndrome of Continuous Muscle-Fibre Activity

Cited by 377 publications

References 7 publications

Síndrome de Isaacs: relato de três casos

Síndrome de Isaacs: relato de três casos

The role of humoral autoimmunity in gastrointestinal neuromuscular diseases

Stiff-Man Syndrome

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