title: Autosomal recessive oculopharyngodistal myopathy: a distinct phenotypical, histological, and genetic entity.
abstract: We present a 25 year follow up of two siblings with autosomal recessive (AR) oculopharyngodistal myopathy. Remarkable in these patients, in comparison with patients with oculopharyngeal muscular dystrophy (OPMD), are the earlier age of onset, severe facial weakness, external ophthalmoplegia early in the course of the disease, and distal weakness in the limbs. Histological features included basophilic-rimmed vacuoles, but the typical OPMD intranuclear filaments were absent. These clinical and histological characteristics are comparable with those of two Japanese patients with AR oculopharyngodistal myopathy. This myopathy has usually 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 expansion 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. From this we conclude that AR oculopharyngodistal myopathy is a distinct phenotypical, histological, and genetic entity.
authors.affiliation: Neuromuscular Centre Nijmegen, Institute of Neurology University Medical Centre Nijmegen, PO Box 9101, 6500 HB Nijmegen, the Netherlands.
authors.forename: B M
authors.initials: BM
authors.lastname: van der Sluijs
authors.forename: H J
authors.initials: HJ
authors.lastname: ter Laak
authors.forename: H
authors.initials: H
authors.lastname: Scheffer
authors.forename: S M
authors.initials: SM
authors.lastname: van der Maarel
authors.forename: B G M
authors.initials: BG
authors.lastname: van Engelen
mesh_terms: D000328:Adult; D017668:Age of Onset; D005260:Female; D006801:Humans; D040582:Inheritance Patterns; D008297:Male; D018908:Muscle Weakness / Q000209:etiology; D009135:Muscular Diseases / Q000235:genetics* / Q000473:pathology*; D039141:Muscular Dystrophy, Oculopharyngeal / Q000235:genetics* / Q000473:pathology*; D010641:Phenotype; D035781:Siblings