RESUMEN
Myotonia is the phenomenon of decrease of muscular relaxation rate, after either a contraction or a mechanical or electrical stimulus. Congenital myotonias are hereditary affections and do not present muscular dystrophy. The current trend is to group them as ionic channels diseases, together with the periodic paralysis. The authors accompanied the cases of seven patients, six males and one female, with ages ranging from 16 to 48 years (average 27 years) and onset of symptoms between 1 and 10 years (average 5 years). These patients presented a myotonic phenomenon unleashed by intensive contraction and global muscular hypertrophy. Three patients were diagnosed as cases of Becker type generalized myotonia because they presented a recessive autosomic heredity and/or transient episodes of muscular weakness. Two patients fitted the description of Thomsen congenital myotonia, with a pattern of dominating autosomic heredity and/or absence of weakness episodes or worsening factors for their condition. Two patients presented fluctuating myotonia, which because worse in cold weather or at potassium intake. The clinical diagnosis was confirmed through complementary tests (electroneuromyography, muscle biopsy and DNA study). Each of the patients made use of different drugs, in the search of optimal lessening of their myotonia. There were five reports of amelioration with the use of diphenilhydantoine; one report with the use of carbamazepine; three reports with the use of acetazolamide; one report with the use of a calcium channel blocker; one report with the use of a beta-adrenergic; one report with the use of thiazide; and none with the use of quinidine/procainamide.
Asunto(s)
Miotonía Congénita/diagnóstico , Adolescente , Adulto , Femenino , Humanos , Masculino , Persona de Mediana Edad , Miotonía Congénita/tratamiento farmacológicoRESUMEN
We report the case of a child with myotonic dystrophy (DM) with symptoms beginning at the age of seven, whose genetic study showed an additional DNA fragment, greater than of his father, an asymptomatic carrier. The clinical and molecular analysis of this parent-child pair are probably the first described in Brazil, since the recent discovery of genetic abnormality in DM by American and European researchers, that explained the long-debated phenomenon of "anticipation" in this disease. The main advances in molecular genetics in DM and its correlation with increasing severity and earlier onset of the symptoms in successive generations of a family are commented briefly.
Asunto(s)
Distrofia Miotónica/genética , Niño , ADN/análisis , Humanos , Cariotipificación , MasculinoRESUMEN
Results of investigation about Enterovirus-70 (EV-70) as an etiologic agent of epidemic of acute haemorrhagic conjunctivitis (AHC) and neurological disease in the metropolitan area of São Paulo city are presented. During the first three months of 1984, in an epidemic period of AHC, 3 groups with a total of 291 persons were studied. The group A included 90 individuals affected by AHC; the 99 persons belonging to group B did not acquire the AHC but referred familiar contact with the ill individuals; the group C included 102 persons who denied the AHC or any contact with the illness. Neutralization test in BHK-21 cell culture was used for measurement of antibodies in sera. For the detection of the presence of IgM, indirect immunofluorescence assay was utilized. The presence of IgM antibodies was observed in 56.7%, 33.3% and 20.6% of persons belonging to groups A, B and C, respectively. The 10-29 age group was the most affected in the group A. From april 1984, after the end of epidemic period of AHC, until December 1987, three sporadic cases of AHC and 10 cases with acute neurological disease associated with recent infection by EV-70 were observed. Nine of 10 persons with acute neurological symptoms had paralysis of cranial nerves, all of them recovering without sequelae. The circulation of EV-70 in the population during the endemic period was maintained by either asymptomatic, sporadic cases of AHC or neurological diseases.
Asunto(s)
Conjuntivitis Hemorrágica Aguda/epidemiología , Brotes de Enfermedades , Infecciones por Enterovirus/epidemiología , Enterovirus/patogenicidad , Adolescente , Adulto , Anciano , Anticuerpos Antivirales/análisis , Brasil/epidemiología , Niño , Preescolar , Enterovirus/inmunología , Infecciones por Enterovirus/complicaciones , Femenino , Técnica del Anticuerpo Fluorescente , Humanos , Inmunoglobulina M/análisis , Lactante , Recién Nacido , Masculino , Persona de Mediana Edad , Pruebas de NeutralizaciónRESUMEN
A fifteen-year study was made in the neurologic clinic of the school of medicine, of the City of Sao Paulo; 466 patients were examined clinically and with EMG determination of enzymes, biopsies and genetic counsel. The diagnosis varied much and some important findings at heart level, with overload, were discovered in some cases. In the cases in which the diagnosis was not confirmed; CPK was determined, which was increased in all cases, but was not so with GOT, GPT and LDH. A family pattern was found in the Duchenne Becker distrophy, limb-girdle syndrome, fascioscapulohumeral and oculopharyngeal. The biopsy exposed 15 of the 18 polymyositis cases. Genetic counsel was given to heterozygotes with PMD genes of great risk of presentation. An acute stage, detected by CPK dosage, was foreseen for adolescent heterozygotes.
Asunto(s)
Enfermedades Musculares/epidemiología , Adulto , Alanina Transaminasa/análisis , Aspartato Aminotransferasas/análisis , Brasil , Creatina Quinasa/análisis , Electromiografía , Femenino , Asesoramiento Genético , Humanos , L-Lactato Deshidrogenasa/análisis , Masculino , Enfermedades Musculares/diagnóstico , Enfermedades Musculares/enzimología , Enfermedades Musculares/genéticaRESUMEN
A review of all myopathic patients treated at the Neurologic Clinic of the Medical School of the University of São Paulo during the past 15 years is reported. A total of 466 cases were examined and distributed as follows: 56% of progressive muscular dystrophy; 31% of myasthenia gravis; 6% of polymyositis; 4% of myotonic dystrophy; and the remainder of several different diseases (central core disease, Kearn-syndrome, myotonia congenita, adynamia episodica hereditaria, diabetic myopathy and Eaton-Lambert syndrome). Enzymatic dosages, electromyography, muscle biopsy, electrocardiography and genetic counselling are also reported.