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1.
Am J Phys Med Rehabil ; 101(7): e112-e114, 2022 07 01.
Artigo em Inglês | MEDLINE | ID: mdl-35302525

RESUMO

ABSTRACT: This case study presents a 31-yr-old male weightlifter without known neuromuscular disease who presented with 5 wks of atraumatic, constant fasciculations of his right teres major muscle without recent injury. Electromyography identified fasciculation potentials within the teres major and pronator teres, suggesting an acute C6 radiculopathy, although a cervical magnetic resonance imaging demonstrated no significant neuroforaminal stenosis. Trigger point injections and multiple medications failed to stop the fasciculations. Under electromyography and ultrasound guidance, he was focally injected with botulinum toxin to the teres major 10 wks from initial onset with subsequent complete resolution of the symptoms and no side effects.


Assuntos
Toxinas Botulínicas Tipo A , Fasciculação , Fármacos Neuromusculares , Adulto , Atletas , Toxinas Botulínicas Tipo A/uso terapêutico , Eletromiografia , Fasciculação/diagnóstico por imagem , Fasciculação/tratamento farmacológico , Humanos , Masculino , Músculo Esquelético , Fármacos Neuromusculares/uso terapêutico , Ultrassonografia de Intervenção
3.
Am J Emerg Med ; 37(4): 798.e1-798.e2, 2019 04.
Artigo em Inglês | MEDLINE | ID: mdl-30686539

RESUMO

Organophosphorus (OP) compound poisoning with suicidal intent is common. It is one of the frequent cause for admission to hospital Emergencies and intensive care units in our region. We describe here a case of 19-year old girl who presented to the Emergency Department with atypical features of OP poisoning. She had perioral, tongue and lower limb fasciculations along with generalized muscle weakness with no or minimal muscarinic effects. OP poisoning with isolated nicotinic receptor mediated effect is often reported in children but in adult it is extremely rare. Based on history and clinical suspicion of nicotinic receptor mediated effect of OP, she was given intravenous atropine along with other supportive treatment. Patient got completely recovered from fasciculations and her motor weakness improved after 6 h of atropine therapy. Emergency physician should keep a high index of suspicion of isolated nicotinic and ganglionic mediated effect of OP and a trial of atropine should be given to the patient.


Assuntos
Atropina/uso terapêutico , Fasciculação/etiologia , Antagonistas Muscarínicos/uso terapêutico , Debilidade Muscular/etiologia , Intoxicação por Organofosfatos/diagnóstico , Administração Intravenosa , Atropina/administração & dosagem , Fasciculação/tratamento farmacológico , Feminino , Humanos , Inseticidas/intoxicação , Antagonistas Muscarínicos/administração & dosagem , Debilidade Muscular/tratamento farmacológico , Intoxicação por Organofosfatos/tratamento farmacológico , Intoxicação por Organofosfatos/urina , Tentativa de Suicídio , Adulto Jovem
4.
Rinsho Shinkeigaku ; 52(9): 677-80, 2012.
Artigo em Japonês | MEDLINE | ID: mdl-22989904

RESUMO

A 21-year-old man complained of severe pain and muscle twitching localized in his right arm. Neurological examination showed muscle fasciculations in his right forearm but no myokymia or myotonia. Needle electromyography revealed fibrillation potentials in his biceps brachii muscle and extensor carpi radialis muscle at rest but no myokymic discharges. His serum anti-voltage-gated potassium channel (VGKC)-complex antibody level was significantly high (194.2pM; controls <100pM). Although anticonvulsant therapy relieved his pain, he was readmitted to our hospital because of severe pain in his left arm and both thighs three months later. A high-dose intravenous immunoglobulin (IVIG) therapy followed by steroid pulse therapy relieved his pain. This case with neither muscle cramp nor myokymia expands the phenotype of anti VGKC-complex antibody associated disorder.


Assuntos
Autoanticorpos/sangue , Fasciculação/tratamento farmacológico , Fasciculação/imunologia , Dor/tratamento farmacológico , Dor/imunologia , Canais de Potássio de Abertura Dependente da Tensão da Membrana/imunologia , Extremidade Superior , Adulto , Biomarcadores/sangue , Eletromiografia/métodos , Fasciculação/diagnóstico , Humanos , Imunoglobulinas Intravenosas/administração & dosagem , Masculino , Metilprednisolona/administração & dosagem , Pulsoterapia , Índice de Gravidade de Doença , Resultado do Tratamento , Adulto Jovem
5.
Yonsei Med J ; 51(4): 585-9, 2010 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-20499427

RESUMO

PURPOSE: The present visual and electromyographic study was designed to evaluate muscle fasciculations caused by succinylcholine in adults pretreated with either remifentanil 1.5 microg/kg or saline. MATERIALS AND METHODS: The effect of remifentanil on succinylcholine-induced muscle fasciculations was studied using a double-blind method in 40 adults. After i.v. pretreatment with either remifentanil 1.5 microg/kg (remifentanil group, n = 20) or an equivalent volume of i.v. saline (saline group, n = 20), patients were anaesthetized with a 2.0 mg/kg of i.v. propofol followed by i.v. succinylcholine 1.0 mg/kg. Intensity and duration of muscle fasciculation following i.v. succinylcholine administration were recorded. Electromyography (EMG) was used to quantify the extent of muscle fasciculation following i.v. succinylcholine injection. Myalgia was evaluated 24 hours after induction time. Serum potassium levels were measured five minutes after i.v. succinylcholine administration and creatine kinase (CK) levels 24 hours after induction time. RESULTS: Compared to saline treated controls, remifentanil decreased the intensity of muscle fasciculations caused by i.v. succinylcholine [fasciculation severity scores (grade 0 to 3) were 2/1/12/5 and 3/13/4/0 (patients numbers) in the saline group and the remifentanil group, respectively, p < 0.001]. The mean (SD) maximum amplitude of muscle action potential (MAP) by EMG was smaller in the remifentanil group [283.0 (74.4) microV] than in the saline group [1480.4 (161.3) microV] (p = 0.003). Postoperative serum CK levels were lower in the remifentanil group (p < 0.001). Postoperative myalgia was not different between the two groups. CONCLUSION: Remifentanil 1.5 microg/kg attenuated intensity of muscle fasciculations by succinylcholine.


Assuntos
Fasciculação/tratamento farmacológico , Piperidinas/uso terapêutico , Succinilcolina/efeitos adversos , Adulto , Idoso , Pressão Sanguínea/efeitos dos fármacos , Creatina Quinase/sangue , Método Duplo-Cego , Eletromiografia , Fasciculação/induzido quimicamente , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Remifentanil
6.
Clin Neuropharmacol ; 32(2): 94-6, 2009.
Artigo em Inglês | MEDLINE | ID: mdl-18978493

RESUMO

BACKGROUND: Thiopentone has a protective effect as far as succinylcholine-induced myalgias are concerned; however, a few studies were done in the efficacy of thiopentone on fasciculation induced by succinylcholine. The purpose of this study was to determine the effects of thiopentone on onset, duration, and severity of fasciculation caused by succinylcholine injection. METHODS: Three hundred patients, in American Society of Anesthesiologists Physical Status Classification I and II, undergoing elective ocular surgery at Farabi Eye Hospital in 2003 were considered and divided into 2 groups who received intravenous succinylcholine immediately and 30 seconds after thiopentone injection, respectively. After premedication and induction of anesthesia, the severity and duration of fasciculations caused by succinylcholine were compared between the 2 groups. RESULTS: In the group using succinylcholine immediately after thiopentone injection, the onset of fasciculation was earlier (P = 0.0006), and duration of fasciculation was shorter (P = 0.0002) than the other group. In addition, moderate to severe fasciculation was found more in the group using succinylcholine 30 seconds after thiopentone injection (P = 0.038). CONCLUSIONS: Pretreatment with thiopentone immediately before succinylcholine administration can decrease the duration and severity of fasciculation more than thiopentone injection 30 seconds before succinylcholine administration.


Assuntos
Fasciculação/induzido quimicamente , Fasciculação/tratamento farmacológico , Hipnóticos e Sedativos/uso terapêutico , Succinilcolina , Tiopental/uso terapêutico , Adolescente , Adulto , Esquema de Medicação , Feminino , Humanos , Injeções Intravenosas/métodos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Índice de Gravidade de Doença , Fatores de Tempo , Adulto Jovem
7.
Arq Neuropsiquiatr ; 65(4A): 1015-7, 2007 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-18094867

RESUMO

Fasciculations are symptoms present in a broad spectrum of conditions, ranging from normal manifestations to motor neuron diseases. They also represent the main picture of benign fasciculation syndrome. We report a case of such syndrome: a 48-years-old woman complaining about fasciculations for three decades who remained with the symptoms even after the compensation of a disclosed hyperthyroidism. The introduction of gabapentin rendered control of her fasciculations. The available data in the literature about the therapeutic approaches for fasciculations are revised, as long as the rare reports of evolution from patients with "benign" fasciculations to cases of amyotrophic lateral sclerosis, underlining the importance of following the patients with fasciculations.


Assuntos
Aminas/uso terapêutico , Anticonvulsivantes/uso terapêutico , Ácidos Cicloexanocarboxílicos/uso terapêutico , Fasciculação/tratamento farmacológico , Ácido gama-Aminobutírico/uso terapêutico , Fasciculação/diagnóstico , Feminino , Gabapentina , Humanos , Pessoa de Meia-Idade
8.
Arq. neuropsiquiatr ; 65(4a): 1015-1017, dez. 2007.
Artigo em Inglês | LILACS | ID: lil-470135

RESUMO

Fasciculations are symptoms present in a broad spectrum of conditions, ranging from normal manifestations to motor neuron diseases. They also represent the main picture of benign fasciculation syndrome. We report a case of such syndrome: a 48-years-old woman complaining about fasciculations for three decades who remained with the symptoms even after the compensation of a disclosed hyperthyroidism. The introduction of gabapentin rendered control of her fasciculations. The available data in the literature about the therapeutic approaches for fasciculations are revised, as long as the rare reports of evolution from patients with "benign" fasciculations to cases of amyotrophic lateral sclerosis, underlining the importance of following the patients with fasciculations.


Fasciculações são sintomas presentes em um amplo espectro de condições, desde manifestações normais até doenças do neurônio motor. Elas representam também o principal aspecto da síndrome de fasciculações benignas. Relatamos um caso desta síndrome: uma paciente de 48 anos com queixas de fasciculações por três décadas que, mesmo após a compensação de um quadro de hipertireoidismo, permaneceu com os sintomas. A introdução de gabapentina levou a controle das fasciculações. Os dados disponíveis na literatura sobre as abordagens terapêuticas para fasciculações são revisados, assim como os raros relatos de evolução de pacientes com fasciculações "benignas" para casos de esclerose lateral amiotrófica, salientando a importância do seguimento dos pacientes com fasciculações.


Assuntos
Feminino , Humanos , Pessoa de Meia-Idade , Aminas/uso terapêutico , Anticonvulsivantes/uso terapêutico , Ácidos Cicloexanocarboxílicos/uso terapêutico , Fasciculação/tratamento farmacológico , Ácido gama-Aminobutírico/uso terapêutico , Fasciculação/diagnóstico
9.
Compend Contin Educ Vet ; 29(3): 166-76; quiz 176-7, 2007 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-17726937

RESUMO

Snake envenomation has been widely reported throughout the human and veterinary literature. The effects of venom include coagulation disorders, neurotoxicity, and tissue effects, such as local swelling and necrosis. Significant progress has been made in understanding the pathophysiology of envenomation, leading to changes in treatment protocols. Recent developments include the production of a new antivenin and a canine rattlesnake vaccine.


Assuntos
Antivenenos/uso terapêutico , Venenos de Crotalídeos/efeitos adversos , Crotalus , Doenças do Cão/prevenção & controle , Cães/lesões , Mordeduras de Serpentes/veterinária , Animais , Doenças do Cão/tratamento farmacológico , Doenças do Cão/patologia , Fasciculação/tratamento farmacológico , Fasciculação/veterinária , Humanos , Síndromes Neurotóxicas/tratamento farmacológico , Síndromes Neurotóxicas/veterinária , Mordeduras de Serpentes/patologia , Mordeduras de Serpentes/prevenção & controle , Infecção dos Ferimentos/veterinária , Ferimentos e Lesões/veterinária
10.
Clin Toxicol (Phila) ; 45(5): 472-5, 2007.
Artigo em Inglês | MEDLINE | ID: mdl-17503249

RESUMO

INTRODUCTION: Neurotoxicity following rattlesnake envenomation is reported with certain crotaline species. In some instances, crotaline Fab antivenom therapy that effectively halts progression of local tissue edema and hemotoxicity fails to reverse neurologic venom effects. CASE SERIES: A 50-year-old man presented following a rattlesnake envenomation to the left ring finger. He had swelling and pain in the affected hand and complained of dyspnea and dysphonia. Significant fasciculations were seen in the face, tongue, neck, trunk, and arms. The patient received crotaline Fab antivenom but continued to develop worsening respiratory distress. His respiratory insufficiency requiring ventilatory support appeared related to respiratory muscle incoordination as extremity motor function remained intact. Initial control of local edema progression and hematologic parameters was achieved with antivenom, but diffuse fasciculations involving the entire body worsened despite aggressive antivenom treatment. In another case, a 9-year-old boy was envenomated by a rattlesnake on the left thenar eminence. He presented with pain and swelling up to the forearm and fasciculations of the tongue, face, and upper extremities. The progression of edema was halted at the mid-bicep level and hematologic parameters normalized with crotaline Fab antivenom. However, fasciculations continued for two days despite antivenom treatment. CONCLUSION: We describe two cases of neurotoxicity following rattlesnake envenomation in which treatment with crotaline Fab antivenom adequately obtained initial control of local swelling and hematologic effects, but neurotoxic venom effects remained refractory to antivenom therapy. This phenomenon is anecdotally recognized following certain crotaline species envenomations.


Assuntos
Antivenenos/uso terapêutico , Venenos de Crotalídeos/imunologia , Mordeduras de Serpentes/tratamento farmacológico , Animais , Criança , Crotalus , Fasciculação/tratamento farmacológico , Humanos , Fragmentos Fab das Imunoglobulinas/imunologia , Masculino , Pessoa de Meia-Idade , Síndromes Neurotóxicas/tratamento farmacológico
11.
Rev Neurol (Paris) ; 160(5 Pt 2): S85-9, 2004 May.
Artigo em Inglês | MEDLINE | ID: mdl-15269665

RESUMO

There is increasing evidence that autoimmunity is implicated in the pathogenesis of peripheral nerve hyperexcitability (neuromyotonia, NMT and Cramp-fasciculation syndrome C-FS ) and in Maladie de Morvan in which CNS features are also present. All three conditions can associate with thymoma, myasthenia gravis and other autoimmune disorders, and can often respond to plasma exchange. In NMT, patient's plasma or IgG can transfer the electrophysiological features to mice, and can reduce voltage-gated potassium channel currents in vitro. Antibodies to voltage-gated potassium channels can be detected in the serum of many patients who have peripheral nerve hyperexcitability, and also in those with Maladie de Morvan. These latter patients have clinical features similar to limbic encephalitis in which VGKC antibodies can also occur. Thus neuromyotonia, cramp-fasciculation syndrome and Maladie de Morvan can occur as antibody-mediated autoimmune ion channelopathies like myasthenia gravis and the Lambert-Eaton myasthenic syndrome. These discoveries should aid diagnosis and offer new approaches to treatment.


Assuntos
Miotonia/fisiopatologia , Animais , Autoanticorpos/análise , Doenças Autoimunes/tratamento farmacológico , Doenças Autoimunes/fisiopatologia , Eletrofisiologia , Fasciculação/tratamento farmacológico , Fasciculação/fisiopatologia , Humanos , Canais Iônicos/efeitos dos fármacos , Canais Iônicos/fisiologia , Cãibra Muscular/tratamento farmacológico , Cãibra Muscular/fisiopatologia , Relaxantes Musculares Centrais/uso terapêutico , Miotonia/tratamento farmacológico , Canais de Potássio/imunologia , Canais de Potássio/fisiologia , Siringomielia/tratamento farmacológico , Siringomielia/fisiopatologia
12.
AANA J ; 71(1): 23-8, 2003 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-12776646

RESUMO

Fasciculations are a common side effect of the use of succinylcholine for tracheal intubation. Many anesthesia care providers prefer to prevent them due to a possible association between fasciculations and increased intracranial and intraocular pressures. The purpose of this study was to compare the effectiveness of tubocurarine, rocuronium, and cisatracurium in the prevention and reduction of succinylcholine-induced muscle fasciculations. The study was a prospective, randomized, double-blind, clinical drug comparison. We randomly assigned 40 subjects to 1 of 4 pretreatment groups. Fasciculations were graded on a 4-point scale. A Kruskal-Wallis analysis of variance, used to analyze data collected from the fasciculation scale, demonstrated there was no statistically significant difference in efficacy between tubocurarine and rocuronium for defasciculation or between cisatracurium and saline for defasciculation. Significant differences were shown between the tubocurarine and cisatracurium groups and between the rocuronium and cisatracurium groups. Rocuronium is equally as efficacious as tubocurarine for defasciculation. Therefore, rocuronium is a valid alternative to tubocurarine for defasciculation. Cisatracurium is inferior to rocuronium and tubocurarine for defasciculation. Therefore, the use of cisatracurium is not recommended for defasciculation.


Assuntos
Androstanóis/administração & dosagem , Atracúrio/análogos & derivados , Atracúrio/administração & dosagem , Fasciculação/tratamento farmacológico , Fármacos Neuromusculares não Despolarizantes/administração & dosagem , Tubocurarina/administração & dosagem , Adulto , Fasciculação/induzido quimicamente , Feminino , Humanos , Masculino , Fármacos Neuromusculares não Despolarizantes/efeitos adversos , Enfermeiros Anestesistas , Estudos Prospectivos , Rocurônio , Succinilcolina/efeitos adversos
13.
Acta Anaesthesiol Scand ; 47(2): 180-4, 2003 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-12631047

RESUMO

BACKGROUND: The purpose of this prospective study was to determine the effects of high-dose propofol on the incidence of fasciculations and myalgia, and to evaluate changes in creatine kinase levels following the administration of succinylcholine in 90 women who underwent laparoscopy. METHODS: Patients were randomly assigned to one of three groups. Induction of anesthesia was performed with thiopentone 5 mg kg(-1) in Group I (n = 30), propofol 2 mg kg(-1) in Group II (n = 30), and propofol 3.5 mg kg(-1) in Group III (n = 30). Then succinylcholine 1 mg kg(-1) was administered to the patients for intubation. RESULTS: Fasciculation was absent in 20% of Group III patients, and no vigorous fasciculation occurred in this group. Furthermore, the severity of fasciculation in Group III was significantly lower than in the other two groups (P = 0.01). Seventy per cent of patients had no myalgia in Group III, 39.2% in Group II and 37% in Group I (P = 0.007). Severity of myalgia was also significantly lower in Group III compared with the other two groups (P = 0.011). Post-operative creatine kinase levels were significantly higher than their baseline values in Groups I and II (P < 0.0001). CONCLUSION: Administration of propofol 3.5 mg kg-1 is effective in reducing fasciculations and myalgia after succinylcholine.


Assuntos
Anestésicos Intravenosos/uso terapêutico , Fasciculação/induzido quimicamente , Fasciculação/tratamento farmacológico , Fármacos Neuromusculares Despolarizantes/efeitos adversos , Doenças Neuromusculares/induzido quimicamente , Doenças Neuromusculares/tratamento farmacológico , Dor Pós-Operatória/induzido quimicamente , Dor Pós-Operatória/tratamento farmacológico , Dor/induzido quimicamente , Dor/tratamento farmacológico , Propofol/uso terapêutico , Succinilcolina/efeitos adversos , Adulto , Anestésicos Intravenosos/administração & dosagem , Creatina Quinase/sangue , Método Duplo-Cego , Feminino , Procedimentos Cirúrgicos em Ginecologia , Humanos , Laparoscopia , Masculino , Propofol/administração & dosagem
14.
Muscle Nerve ; 24(1): 47-53, 2001 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-11150965

RESUMO

Bupivacaine-induced regeneration was studied in rat soleus muscle under several conditions, with the focus on type 2A and type 1 myosin heavy chain (MHC) isoform expression. In denervated muscles, type 1 was absent, whereas type 2A was widely expressed, a pattern of regeneration which appeared to be independent of fibrillation activity of the muscle. Both type 1 and type 2A isoforms were absent in muscles regenerated during tetrodotoxin (TTX) block of impulse conduction in the sciatic nerve, but type 2A was still present when the TTX block was associated with the vinblastine block of axoplasmic flow; vinblastine block alone caused the coexpression of type 1 and type 2A isoforms in the majority of fibers. These results suggest that axoplasmic flow carries some chemical factor that inhibits 2A MHC isoform expression. The results are also of clinical interest, contributing to the understanding of factors controlling muscle differentiation and adaptation.


Assuntos
Fibras Musculares de Contração Lenta/metabolismo , Músculo Esquelético/inervação , Músculo Esquelético/metabolismo , Cadeias Pesadas de Miosina/biossíntese , Anestésicos Locais/farmacologia , Animais , Antineoplásicos Fitogênicos/farmacologia , Transporte Axonal/efeitos dos fármacos , Bupivacaína/farmacologia , Eletroforese em Gel de Poliacrilamida , Fasciculação/tratamento farmacológico , Feminino , Imuno-Histoquímica , Masculino , Denervação Muscular , Fibras Musculares de Contração Lenta/efeitos dos fármacos , Fibras Musculares de Contração Lenta/patologia , Músculo Esquelético/efeitos dos fármacos , Músculo Esquelético/patologia , Procainamida/farmacologia , Isoformas de Proteínas , Ratos , Ratos Wistar , Regeneração/efeitos dos fármacos , Regeneração/fisiologia , Nervo Isquiático/efeitos dos fármacos , Nervo Isquiático/fisiologia , Nervo Isquiático/ultraestrutura , Tetrodotoxina/farmacologia , Vimblastina/farmacologia
17.
Acta Neurol Scand ; 98(6): 458-60, 1998 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-9875627

RESUMO

We report a case of "myokymia-cramp syndrome", a rare and benign disease consisting of muscular cramps in the upper and lower limbs associated with generalized myokymias. In our patient, cramps had been present since adolescence and had increased in frequency and duration during the last 3 years, occurring about 8 or 9 times a day. Cramps were mainly nocturnal and also precipitated by walking; a previous treatment with carbamazepine did not improve the symptoms. Gabapentin therapy proved to be very satisfactory in relieving muscular cramps with a relatively low dosage (600 mg/day) and without any remarkable side effects. The possible interpretation of the mechanism involved in gabapentin induced relief of cramps is discussed. Gabapentin should be considered as a safe alternative treatment for muscular cramps.


Assuntos
Acetatos/uso terapêutico , Aminas , Ácidos Cicloexanocarboxílicos , Fasciculação/tratamento farmacológico , Cãibra Muscular/tratamento farmacológico , Ácido gama-Aminobutírico , Extremidades , Gabapentina , Humanos , Masculino , Pessoa de Meia-Idade , Síndrome , Resultado do Tratamento
18.
Rev Neurol (Paris) ; 153(10): 602-4, 1997 Oct.
Artigo em Francês | MEDLINE | ID: mdl-9684027

RESUMO

A 35 year-old man developed a syndrome with muscle cramp, myokimia, generalized, fasciculations, excessive sweating, sleep disorders and severe impairment. It was a syndrome of continuous muscle fiber activity--or Isaacs syndrome--with central disorders (this may be called "Maladie de Morvan"). Previous reports have suggested that Isaac's syndrome might be an autoimmune disorder. Moreover, high doses intravenous immunoglobulins were given resulting in a substantial improvement six months after the onset of this treatment.


Assuntos
Fasciculação/tratamento farmacológico , Imunoglobulinas Intravenosas/uso terapêutico , Adulto , Fasciculação/diagnóstico , Fasciculação/imunologia , Humanos , Masculino , Fatores de Tempo
19.
Rev Neurol ; 25(148): 1925-7, 1997 Dec.
Artigo em Espanhol | MEDLINE | ID: mdl-9528033

RESUMO

INTRODUCTION: Acetazolamide responsive hereditary paroxysmal cerebellar ataxia with myokymia is a type of autosomal dominant cerebellar ataxia which locus was found to be linked to the short arm of chromosome 12 and the etiology is unknown. CLINICAL CASE: A 12 years-old man who suffered from childhood daily episodes of sudden attacks sport induced with giddiness, ataxia and dysarthria for minutes. The familial history shows the same clinical findings in three generations. Intercritical general neurologic evaluation is otherwise normal. The following tests were performed with normal results: Biochemistry, electroencephalogram, cerebral magnetic resonance imaging. The electromyography showed myokymic discharges. The patient's symptoms improve on treatment with acetazolamide immediately. CONCLUSIONS: Acetazolamide responsive hereditary paroxysmal cerebellar ataxia with myokymia needs to think on it to be diagnosed. No typical complementary test (electromyography exception) induces to base diagnosis in the clinical findings, the familial history and the fast clinical improvement after starting treatment with acetazolamide.


Assuntos
Acetazolamida/uso terapêutico , Anticonvulsivantes/uso terapêutico , Ataxia Cerebelar/complicações , Ataxia Cerebelar/genética , Fasciculação/complicações , Fasciculação/tratamento farmacológico , Periodicidade , Ataxia Cerebelar/classificação , Criança , Aberrações Cromossômicas/genética , Transtornos Cromossômicos , Cromossomos Humanos Par 12/genética , Humanos , Masculino , Linhagem
20.
Ned Tijdschr Geneeskd ; 140(32): 1655-8, 1996 Aug 10.
Artigo em Holandês | MEDLINE | ID: mdl-8815407

RESUMO

In three patients, men of 43, 44 and 55 years old with muscle cramps, fasciculations and easy fatiguability of muscles, cramp-fasciculation syndrome was diagnosed. This is a benign disorder which has to be differentiated from amyotrophic lateral sclerosis. Response to treatment (benzodiazepines or carbamazepine) is good.


Assuntos
Fasciculação/diagnóstico , Cãibra Muscular/diagnóstico , Adulto , Esclerose Lateral Amiotrófica/diagnóstico , Analgésicos não Narcóticos/uso terapêutico , Benzodiazepinas/uso terapêutico , Carbamazepina/uso terapêutico , Diagnóstico Diferencial , Fasciculação/tratamento farmacológico , Humanos , Masculino , Pessoa de Meia-Idade , Cãibra Muscular/tratamento farmacológico , Fadiga Muscular
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