Autosomal recessive oculopharyngodistal myopathy: a distinct phenotypical, histological, and genetic entity

Journal of Neurology, Neurosurgery, and Psychiatry
B M van der SluijsB G M van Engelen

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.

Citations

Sep 5, 2008·Journal of Neurology·Allan J PieterseBaziel G M van Engelen
Apr 23, 2013·Journal of Plastic, Reconstructive & Aesthetic Surgery : JPRAS·Yusuke ShimizuKazuo Kishi
May 28, 2008·Neuropathology : Official Journal of the Japanese Society of Neuropathology·He LuChuanzhu Yan
Nov 3, 2010·Neuromuscular Disorders : NMD·Wesley ThevathasanDavid Hilton-Jones
Dec 1, 2015·Brazilian Journal of Otorhinolaryngology·Marilia Yuri MaedaLuciano Rodrigues Neves
Nov 8, 2014·Journal of Neurology·Gerald PfefferPatrick F Chinnery
Nov 27, 2020·Acta Neuropathologica Communications·Masashi OgasawaraIchizo Nishino
Dec 30, 2020·Brain : a Journal of Neurology·Jianying XiYan Zhou
Dec 19, 2020·Neuromuscular Disorders : NMD·Zohar Argov, Marianne de Visser
Mar 12, 2021·Brain : a Journal of Neurology·Jiaxi YuZhaoxia Wang

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