RESUMO
Aim: Duchenne muscular dystrophy (DMD) is a severe and rare X-linked neuromuscular childhood disorder that results in functional decline, loss of ambulation and early death due to cardiac or respiratory failure. The objective of this paper is to address different aspects of the current management of DMD in the Middle East, north Africa (MENA) region, and to gather experts' recommendations on how to optimally diagnose and treat patients suffering from this disease. Methods: A group of experts (neuromuscular medicine, neuropediatricians and geneticists) convened to discuss the diagnosis and management of DMD in the MENA region. A list of practical statements was prepared by the chair of the meeting to guide the discussions around critical aspects relating to the current and future management of DMD. Results & conclusion: Ideally, DMD management should be a multidisciplinary approach. Nevertheless, few tertiary care hospitals in the region are currently able to provide the full spectrum of medical expertise and services needed by DMD patients. Clinical practice in the region remains heterogeneous. Specific guidelines for diagnosis and treatment are needed in the MENA region to improve outcomes. Disease awareness among the general public and the medical community is lacking. Now that mutation-specific therapies are being developed and more widely studied, general education programs regarding early signs and symptoms, a standardized referral and diagnosis pathway, patient registries and support groups will significantly improve the management of the disease.
Assuntos
Distrofia Muscular de Duchenne/diagnóstico , Distrofia Muscular de Duchenne/terapia , Humanos , Oriente MédioRESUMO
INTRODUCTION: Alternating hemiplegia of childhood (AHC) is a rare disease characterised by repeated episodes of hemiplegia that alternately affect one side of the body. Onset is usually before the age of 18 months, the episodes last anywhere from a few minutes to several days. In some cases these episodes may even render the early infant quadriplegic for some time if one begins before the previous one has finished or if they occur at the same time. The clinical description includes, in addition to these paralysing attacks, other paroxysmal manifestations that are present in practically all the children diagnosed with this condition and which, moreover, appear earlier. Such manifestations consist in tonic attacks, dystonic attacks, abnormal eye movements and autonomic disorders. The fact that these symptoms precede the typical clinical signs and symptoms often leads to delays in the final diagnosis. CASE REPORT: We report the case of a male, aged one year and nine months, who initially presented a clinical picture of tonic seizures at the age of two weeks, which then went on to episodes of hemiplegia that appeared alternately at the age of 11 months. The patient also presented retarded overall psychomotor development. In the early stages of the symptoms he was diagnosed with epilepsy, failed to respond to multiple antiepileptic drugs, and the electroencephalogram, neuroimaging and complementary blood and urine tests were all normal/negative. The patient responded well to flunarizine. CONCLUSIONS: This is the first patient with AHC reported in El Salvador. The early and accurate diagnosis of AHC is essential to be able to establish drug therapy and improve the prognosis and the quality of life of patients and their families.
TITLE: Hemiplejia alternante de la infancia. Primer caso clinico descrito en El Salvador.Introduccion. La hemiplejia alternante de la infancia (HAI) es una enfermedad rara, caracterizada por episodios repetidos de hemiplejia que afectan alternativamente a un hemicuerpo, son de inicio preferente antes de los 18 meses, duran de minutos a varios dias, e incluso pueden dejar tetraplejico durante un tiempo al lactante, si antes de que se acabe un episodio comienza otro o si estos ocurren de manera simultanea. La descripcion clinica incluye, ademas de estos ataques plejicos, otras manifestaciones paroxisticas presentes practicamente en todos los niños diagnosticados de este trastorno y que son, ademas, de aparicion mas precoz. Consisten en ataques tonicos, ataques distonicos, movimientos oculares anormales y trastornos autonomicos. El hecho de que estos sintomas precedan a la clinica tipica provoca en bastantes ocasiones un retraso en el diagnostico definitivo. Caso clinico. Varon de un año y nueve meses que inicia clinica de crisis tonicas a las dos semanas de vida, posteriormente episodios de hemiplejia que se manifiestan de forma alternante a los 11 meses de vida, y ademas presenta retraso psicomotor global. Al principio de los sintomas se diagnostico epilepsia, no respondio a multiples farmacos antiepilepticos, y el electroencefalograma, la neuroimagen y las pruebas complementarias en sangre y orina fueron normales/negativos. Presento respuesta favorable a la flunaricina. Conclusion. Es el primer paciente descrito de HAI en El Salvador. El diagnostico precoz y acertado de HAI es fundamental para iniciar farmacoterapia y mejorar el pronostico y calidad de vida de los pacientes y sus familias.