RESUMEN
Before 2006, Pompe disease or glycogenosis storage disease type II was an incurable disease whose treatment was merely palliative. The development of a recombinant human alpha-glucosidase enzymatic replacement therapy has become the first specific treatment for this illness. The aim of this guide is to serve as reference for the management of the late-onset Pompe disease, the type of Pompe disease that develops after one year of age. In the guide a group of Spanish experts make specific recommendations about diagnosis, follow-up and treatment of this illness. With regard to diagnosis, the dried blood spots method is essential as the first step for the diagnosis of Pompe disease. The confirmation of the diagnosis of Pompe disease must be made by means of an study of enzymatic activity in isolated lymphocytes or a mutation analysis of the alpha-glucosidase gene. With regard to treatment with enzymatic replacement therapy, the experts say that is effective improving or stabilizating the motor function and the respiratory function and it must be introduced when the first symptoms attributable to Pompe disease appear.
Asunto(s)
Enfermedad del Almacenamiento de Glucógeno Tipo II/diagnóstico , Enfermedad del Almacenamiento de Glucógeno Tipo II/terapia , Algoritmos , Enfermedad del Almacenamiento de Glucógeno Tipo II/complicaciones , HumanosRESUMEN
A Spanish family is reported with dystrophinopathy of myalgia and cramps syndrome type. There were five affected males and three females, and also six asymptomatic carriers. Muscle biopsy showed a dystrophic pattern, but immunohistochemistry carried out with three anti-dystrophin antibodies was normal. Dystrophin analysis by western blot revealed a dystrophin of reduced quantity and molecular weight. DNA analysis showed a deletion of the dystrophin gene involving exons 45-52. The natural history of this disorder and the large intrafamilial clinical variability are discussed.
Asunto(s)
Distrofina/análisis , Distrofina/genética , Calambre Muscular/genética , Enfermedades Musculares/genética , Dolor/etiología , Adolescente , Adulto , Anciano , Western Blotting , Niño , Tolerancia al Ejercicio , Exones/genética , Femenino , Humanos , Inmunohistoquímica , Masculino , Persona de Mediana Edad , Calambre Muscular/etiología , Enfermedades Musculares/patología , Linaje , España , SíndromeAsunto(s)
Distrofia Muscular de Duchenne/diagnóstico , Adolescente , Adulto , Biopsia , Niño , Preescolar , Humanos , Inmunohistoquímica , Masculino , Músculo Esquelético/patología , Músculo Esquelético/fisiopatología , Músculo Esquelético/cirugía , Distrofia Muscular de Duchenne/genética , Distrofia Muscular de Duchenne/patología , Distrofia Muscular de Duchenne/fisiopatologíaAsunto(s)
Carnitina O-Palmitoiltransferasa/deficiencia , Inhibidores de Hidroximetilglutaril-CoA Reductasas/efectos adversos , Enfermedades Musculares , Adulto , Femenino , Humanos , Inhibidores de Hidroximetilglutaril-CoA Reductasas/uso terapéutico , Hiperlipoproteinemia Tipo II/tratamiento farmacológico , Músculo Esquelético/metabolismo , Músculo Esquelético/patología , Enfermedades Musculares/diagnóstico , Enfermedades Musculares/tratamiento farmacológico , Enfermedades Musculares/patología , Enfermedades Musculares/fisiopatologíaRESUMEN
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Asunto(s)
Masculino , Adolescente , Humanos , Niño , Adulto , Preescolar , Inmunohistoquímica , Distrofia Muscular de Duchenne , Biopsia , Músculo EsqueléticoRESUMEN
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Asunto(s)
Adulto , Humanos , Femenino , Enfermedades Musculares , Enfermedades Musculares , Músculo Esquelético , Inhibidores de Hidroximetilglutaril-CoA Reductasas , Carnitina O-Palmitoiltransferasa , Carnitina O-Palmitoiltransferasa , Hiperlipoproteinemia Tipo IIAsunto(s)
Atrofias Musculares Espinales de la Infancia/diagnóstico , Adulto , Errores Diagnósticos , Progresión de la Enfermedad , Electromiografía , Fasciculación/etiología , Femenino , Mano/patología , Fuerza de la Mano , Humanos , Masculino , Atrofias Musculares Espinales de la Infancia/epidemiología , Atrofias Musculares Espinales de la Infancia/fisiopatología , Síndrome del Desfiladero Torácico/diagnóstico , Síndrome del Desfiladero Torácico/cirugíaRESUMEN
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Asunto(s)
Adulto , Masculino , Femenino , Humanos , Síndrome del Desfiladero Torácico , Atrofias Musculares Espinales de la Infancia , Progresión de la Enfermedad , Fuerza de la Mano , Trastornos Puerperales , Trombosis Intracraneal , Trombosis de la Vena , Errores Diagnósticos , Electromiografía , Fasciculación , ManoRESUMEN
UNLABELLED: Poor correlation among the various methods for measuring anaerobic threshold (AT) has been reported, and some authors have even reported interobserver variability within a single method. It is unknown whether such variability exists in patients with metabolic myopathies (MM). OBJECTIVE: To determine intra- and interobserver variability in the measurement of AT in patients with MM and analyze the differences for each method used. We enrolled 16 patients with differing forms of MM for exercise testing. AT was determined by 4 methods: lactic threshold (LT), semi-log LT, respiratory equivalent and V-slope. AT was assessed by 2 observers, who analyzed plots in random order on 2 different occasions, locating the AT in each plot. The respiratory equivalent method gave the best intraobserver correlation (r' = 0.95; p < 0.05) and was superior to the LT method (r' = 0.68; p < 0.05). Interobserver correlation was equally acceptable for all except the V-slope method (r' = 0.36; p > 0.05). The most important finding after comparison of the methods was the significant difference in VO2 (ml/min) in AT between the LT method and the non invasive methods (LT = 1,006; respiratory equivalent 1,312; p < 0.05; LT = 1,095; V-slope = 1,251; p < 0.05). CONCLUSION: Intra- and interobserver variability is slight in patients with MM; the best method in this respect is that of the V-slope. AT appears later with non invasive methods and for that reason, invasive measurement (LT) is preferable.
