We present a 25 year follow up of two siblings with autosomal recessive (AR) o culopharyngodistal myopathy. Remarkable in these patients, in comparison with pa tients with oculopharyngeal muscular dystrophy (OPMD), ar...We present a 25 year follow up of two siblings with autosomal recessive (AR) o culopharyngodistal myopathy. Remarkable in these patients, in comparison with pa tients with oculopharyngeal muscular dystrophy (OPMD), are the earlier age of on set, severe facial weakness, external ophthalmoplegia early in the course of the disease, and distal weakness in the limbs. Histological features included basop hilic rimmed vacuoles, but the typical OPMD intranuclear filaments were absent. These clinical and histological characteristics are comparable with those of tw o Japanese patients with AR oculopharyngodistal myopathy. This myopathy has usua lly been described as an autosomal dominant (AD) muscle disorder. It shares some clinical and histological characteristics with OPMD, but most patients with AD oculopharyngodistal myopathy are genetically different. Here we exclude an expan sion of the GCG repeat or any other mutation in the coding region of the PABPN1 gene (responsible for OPMD) in patients with AR oculopharyngodistal myopathy. Fr om this we conclude that AR ocubpharyngodistal myopathy is a distinct phenotypic al, histological, and genetic entity.展开更多
文摘We present a 25 year follow up of two siblings with autosomal recessive (AR) o culopharyngodistal myopathy. Remarkable in these patients, in comparison with pa tients with oculopharyngeal muscular dystrophy (OPMD), are the earlier age of on set, severe facial weakness, external ophthalmoplegia early in the course of the disease, and distal weakness in the limbs. Histological features included basop hilic rimmed vacuoles, but the typical OPMD intranuclear filaments were absent. These clinical and histological characteristics are comparable with those of tw o Japanese patients with AR oculopharyngodistal myopathy. This myopathy has usua lly been described as an autosomal dominant (AD) muscle disorder. It shares some clinical and histological characteristics with OPMD, but most patients with AD oculopharyngodistal myopathy are genetically different. Here we exclude an expan sion of the GCG repeat or any other mutation in the coding region of the PABPN1 gene (responsible for OPMD) in patients with AR oculopharyngodistal myopathy. Fr om this we conclude that AR ocubpharyngodistal myopathy is a distinct phenotypic al, histological, and genetic entity.
