RESUMEN
The paper gives current data on the genetic aspects of different epileptic syndromes. The data available in the world literature on clinicogenealogic, twin, and molecular genetic studies is summarized. New prospects in studying the genetics of epilepsies and epileptic syndromes are defined.
Asunto(s)
Epilepsia/genética , Genética Médica/métodos , Epilepsia/clasificación , Epilepsia/prevención & control , Humanos , SíndromeAsunto(s)
Epilepsias Mioclónicas/diagnóstico , Anticonvulsivantes/uso terapéutico , Atrofia/complicaciones , Atrofia/diagnóstico , Encéfalo/patología , Niño , Preescolar , Electroencefalografía , Epilepsias Mioclónicas/tratamiento farmacológico , Epilepsias Mioclónicas/etiología , Femenino , Humanos , Masculino , Examen Neurológico , Factores de TiempoAsunto(s)
Epilepsias Mioclónicas/diagnóstico , Epilepsia Tipo Ausencia/diagnóstico , Anticonvulsivantes/administración & dosificación , Niño , Quimioterapia Combinada , Electroencefalografía , Epilepsias Mioclónicas/tratamiento farmacológico , Epilepsia Tipo Ausencia/tratamiento farmacológico , Humanos , MasculinoRESUMEN
Juvenile myoclonic epilepsy (JME) is an idiopathic primary generalized epilepsy of teenagers, characterized by massive myoclonic seizures. 18 patients were investigated. Myoclonic seizures first appeared at the mean age of 14 years and were characterized by short rapid abrupt involuntary jerks of extremities with the preserved consciousness. There were 2 types of myoclonic fits: massive seizures with symmetric jerks of extremities (33% of patients) and asymmetric asynchronous seizures of various frequency and intensity (67% of patients). In 50% of patients there were myoclonic seizures in leg muscles, in some cases patients fell down (myoclonic-astatic seizures). The authors emphasize the unusually high frequency of cases with myoclonic seizures combined with absences (66,7%) and generalized convulsions (83,3%) occurring on awakening. It is suggested that myoclonic component in the structure of absences may be an early sign of JME and predict development of myoclonic seizures.
Asunto(s)
Epilepsias Mioclónicas/diagnóstico , Adolescente , Adulto , Edad de Inicio , Encéfalo/diagnóstico por imagen , Niño , Electroencefalografía , Epilepsias Mioclónicas/clasificación , Epilepsias Mioclónicas/epidemiología , Epilepsia Tipo Ausencia/clasificación , Epilepsia Tipo Ausencia/diagnóstico , Epilepsia Tipo Ausencia/epidemiología , Femenino , Humanos , Masculino , Distribución por Sexo , Tomografía Computarizada por Rayos XAsunto(s)
Anticonvulsivantes/uso terapéutico , Epilepsia/tratamiento farmacológico , Fenitoína/uso terapéutico , Glándula Tiroides/efectos de los fármacos , Adolescente , Niño , Preescolar , Relación Dosis-Respuesta a Droga , Epilepsia/sangre , Epilepsia/fisiopatología , Humanos , Glándula Tiroides/metabolismo , Hormonas Tiroideas/sangre , Factores de TiempoAsunto(s)
Carbamazepina/uso terapéutico , Epilepsia/tratamiento farmacológico , Glándula Tiroides/efectos de los fármacos , Envejecimiento/sangre , Envejecimiento/efectos de los fármacos , Carbamazepina/farmacología , Relación Dosis-Respuesta a Droga , Epilepsia/sangre , Epilepsia/fisiopatología , Humanos , Glándula Tiroides/fisiopatología , Hormonas Tiroideas/sangre , Factores de TiempoAsunto(s)
Epilepsia/tratamiento farmacológico , Complicaciones del Embarazo/tratamiento farmacológico , Anomalías Inducidas por Medicamentos/etiología , Anticonvulsivantes/efectos adversos , Anticonvulsivantes/farmacocinética , Epilepsia/sangre , Femenino , Humanos , Recién Nacido , Intercambio Materno-Fetal , Embarazo , Complicaciones del Embarazo/sangreAsunto(s)
Epilepsia/etiología , Hemiplejía/etiología , Convulsiones/etiología , Anticonvulsivantes/uso terapéutico , Diagnóstico Diferencial , Epilepsia/diagnóstico , Epilepsia/tratamiento farmacológico , Femenino , Hemiplejía/diagnóstico , Hemiplejía/tratamiento farmacológico , Humanos , Masculino , Convulsiones/diagnóstico , Convulsiones/tratamiento farmacológico , SíndromeRESUMEN
The authors describe a 16-year-old patient suffering from facial scapulohumeral myopathy. The given case is regarded as sporadic. The disease was characterized by an early debut and rapid progression of neuromuscular disorders. Marked myasthenia and muscular atrophy of the face, shoulders, thighs, as well as contractures in the knee joints, hands and feet were noted. By 15 years the patient demonstrated a noticeable progress of motor disorders: she was unable to stand up from the chair, experienced difficulties in walking along the ward, and had a waddle gait. The given symptom-complex corresponds with the infantile variety of facial scapulohumeral myodystrophy.
Asunto(s)
Músculos Faciales , Distrofias Musculares/diagnóstico , Hombro , Adolescente , Electromiografía , Femenino , Humanos , Distrofias Musculares/genética , Examen Neurológico , SíndromeRESUMEN
Osteochin (Quinoin, Hungary) efficacy was studied in the treatment of 20 patients with Duchenne's progressive myodystrophy. The drug was administered in a dose of 200 mg a day for a month. A favorable effect of such therapy was observed in all the patients. Osteochin was found to have a correcting effect on Ca-regulating hormone function and to promote stabilization of the myodystrophic process.
Asunto(s)
Bloqueadores de los Canales de Calcio/uso terapéutico , Distrofias Musculares/tratamiento farmacológico , 24,25-Dihidroxivitamina D 3/sangre , Evaluación de Medicamentos , Humanos , Locomoción/efectos de los fármacos , Distrofias Musculares/sangre , Distrofias Musculares/fisiopatología , Hormona Paratiroidea/sangre , ComprimidosRESUMEN
Vitamin B12 deficiency is often attended by neuropsychic disorders. In the geriatric population, the level of vitamin B12 is mostly reduced. However, the clinical manifestations and pathogenesis are not completely specified. The authors describe a female patients in whom vitamin B12 deficiency was coupled with manifest neuropsychic disorders. Provide a detailed depiction of the clinical status, the disease course and laboratory findings. Relate the most typical neuropsychic manifestations of vitamin B12 deficiency.
Asunto(s)
Ataxia/etiología , Trastornos del Conocimiento/etiología , Trastornos Neurocognitivos/etiología , Parestesia/etiología , Deficiencia de Vitamina B 12/complicaciones , Ataxia/diagnóstico , Trastornos del Conocimiento/diagnóstico , Femenino , Humanos , Persona de Mediana Edad , Trastornos Neurocognitivos/diagnóstico , Parestesia/diagnóstico , Deficiencia de Vitamina B 12/psicologíaRESUMEN
The authors describe a case of a benign variety of progressive Duchenne type muscular dystrophy in a 8-year-old short-stature boy. Provide the electromyographic and electroneuromyographic data, measurements of the growth hormone in blood serum and osseous age. Make suggestions about coupled inheritance of progressive Duchenne type muscular dystrophy and short stature . The latter one is likely to be attended by a decrease of anabolic processes, which may determine a more benign course of the myodystrophic process.
Asunto(s)
Enanismo/complicaciones , Distrofias Musculares/diagnóstico , Niño , Enanismo/genética , Humanos , Masculino , Distrofias Musculares/etiología , Distrofias Musculares/genética , Linaje , Índice de Severidad de la EnfermedadRESUMEN
The paper concerns a family in which father and sibs (two brothers and a sister) suffered from rapid-progressing myodystrophy. Clinically, the disease was marked by a debut in the pubertal period (at 12 to 13 years), derangement of the muscles of the limb girdles, proximal parts of the legs and arms, and distal parts of the legs. The given case was also characterized by the impairment of the cervical and facial muscles as well as by associated neuromuscular lesions and neurosensory hypoacusis. The case described supports the clinical pleomorphism of the facial scapulohumeral form of Landouzy-Dejerine myopathy.
Asunto(s)
Sordera/complicaciones , Distrofias Musculares/complicaciones , Adolescente , Adulto , Brazo , Niño , Sordera/congénito , Sordera/genética , Electromiografía , Músculos Faciales , Femenino , Humanos , Pierna , Masculino , Distrofias Musculares/diagnóstico , Distrofias Musculares/genética , Linaje , Escápula , Factores de TiempoRESUMEN
A total of 70 patients with Duchenne progressive muscular dystrophy (DPMD) aged 3 to 20 were enrolled in this study. Peculiarities of the diagnosis and diagnostic errors were shown at different stages of medical follow-up of the patients. A half of the patients had pediatrists and orthopedists as their first doctors. Upon the initial investigation, DPMD was diagnosed in about 1/3 of the patients. Retarded motor and psycholingual development were the first signs of the disease in 72.9% and 37.1% of the cases, respectively. Bones and cartilages were also frequently changed. To improve the early DPMD diagnosis it is essential that pediatrists child surgeons and ortopedists be largely informed about the clinical features of the disease.