[Myofibrillar myopathies]. / Filamentopatías.

AIMS: The aim of this study is to analyse the different types of myopathies that are included under the name of filament pathologies and to review both their clinical, pathological and genetic aspects. DEVELOPMENT: The term filament pathologies embraces a heterogeneous group of diseases caused by mutations in the genes that code for the intermediate filaments. Myofibrillar myopathies or myopathies with desmin accumulation belong to the group of filament pathologies. Myofibrillar myopathies are clinically and genetically heterogeneous diseases, with common myopathological bases, which translate a process of myofibril degradation. One characteristic of these diseases is the presence of desmin immunoreactive inclusions in the cytoplasm of the muscle fibres. Approximately a third of the cases are due to mutations in the desmin gene, although to date mutations in the alpha-B-crystallin gene have been reported in two families. In the other patients the gene responsible for the disease remains unknown. CONCLUSION: The complexity of the so-called 'filament pathologies' calls for a multidisciplinary approach to the patient so that the myopathy can be correctly classified. This should consist in a clinical and neurophysiological examination, an immunohistochemical and electron microscope study of the muscle biopsy, and a genetic analysis to check for mutations in the desmin and the alpha-B-crystallin gene.

Filamentopatías / Myofibrillar myopathies

Objetivo. Analizar los diferentes tipos de miopatías que se incluyen bajo la denominación de `filamentopatías' y revisar tanto sus aspectos clínicos como patológicos y genéticos. Desarrollo. El término `filamentopatías' engloba un grupo heterogéneo de enfermedades debidas a mutaciones en los genes que codifican los filamentos intermedios. Las miopatías miofibrilares o miopatías con acumulaciones de desmina pertenecen al grupo de las filamentopatías. Las miopatías miofibrilares son enfermedades clínica y genéticamente heterogéneas, con bases miopatológicas comunes, que reflejan un proceso de degradación de las miofibrillas. En estas enfermedades es característica la presencia de inclusiones inmunorreactivas para desmina en el citoplasma de las fibras musculares. Aproximadamente un tercio de los casos se deben a mutaciones en el gen de la desmina, mientras que, hasta ahora, se han descrito mutaciones en el gen de la alpha-B-cristalina únicamente en dos familias. En el resto de los pacientes, el gen responsable de la enfermedad es desconocido. Conclusión. La complejidad de las filamentopatías obliga, para la tipificación correcta de la miopatía, a un abordaje multidisciplinario del paciente, que comprende estudio clínico y neurofisiológico, estudio de la biopsia muscular -con inmunohistoquímica y microscopía electrónica- y análisis genético para localizar mutaciones en el gen de la desmina y en el de la alpha-B-cristalina (AU)

Aims. The aim of this study is to analyse the different types of myopathies that are included under the name of ‘filament pathologies’ and to review both their clinical, pathological and genetic aspects. Development. The term ‘filament pathologies’ embraces a heterogeneous group of diseases caused by mutations in the genes that code for the intermediate filaments. Myofibrillar myopathies or myopathies with desmin accumulation belong to the group of filament pathologies. Myofibrillar myopathies are clinically and genetically heterogeneous diseases, with common myopathological bases, which translate a process of myofibril degradation. One characteristic of these diseases is the presence of desmin immunoreactive inclusions in the cytoplasm of the muscle fibres. Approximately a third of the cases are due to mutations in the desmin gene, although to date mutations in the alpha-B-crystallin gene have been reported in two families. In the other patients the gene responsible for the disease remains unknown. Conclusion. The complexity of the so-called ‘filament pathologies’ calls for a multidisciplinary approach to the patient so that the myopathy can be correctly classified. This should consist in a clinical and neurophysiological examination, an immunohistochemical and electron microscope study of the muscle biopsy, and a genetic analysis to check for mutations in the desmin and the alpha-B-crystallin gene (AU)

[Treatment of Guillain-barre syndrome: immunoglobulins or plasmapheresis?]. / Tratamiento del síndrome de Guillain-Barré: inmunoglobulinas o plasmaféresis?

The aim of this study was to compare the efficacy of IgIV versus plasmapheresis in the treatment of Guillain-Barré syndrome. Twenty-four Guillain-Barré patients were treated either with IgIV (n = 17), or plasmapheresis (n = 7). Evolution during the first year after onset were assessed using the motor functional scale of Hughes and nerve conduction studies. IgIV treated patients had better functional recovery than the plasmapheresis group (p < 0.05) and shorter hospital stays (p < 0.05). These differences were significant from day 30 after treatment. Complications occurred in 14 patients: 9 (58%) in the IgIV group, and 5 (71%) in the patients treated with plasmapheresis. IgIV treated patients had better functional recovery scores and shorter hospital stays. There were no differences in the complication rates. Therefore we believe that IgIV is the treatment of choice for Guillain-Barré syndrome in our clinical setting.