Surgical treatment of severe blepharoptosis and facial palsy caused by oculopharyngodistal myopathy

Shimizu, Yusuke; Suzuki, Shigeaki; Mori‐Yoshimura, Madoka; Nagasao, Tomohisa; Toriumi, Masahiro; Oji, Tomito; Murata, Miho; Kishi, Kazuo

doi:10.1016/j.bjps.2013.03.034

Cited by 2 publications

(3 citation statements)

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“…Nasogastric feeding can reduce the risk of aspiration and ensure basic nutritional support. Surgical treatment, such as blepharoptosis surgery and aesthetic surgery, may improve the quality of life for patients with OPDM [17].…”

Section: Managementmentioning

confidence: 99%

“…In 1977, Satoyoshi and Kinoshita [2] described for the first time that four Japanese families had this common form of disease and named it OPDM. So far, there have been more than 300 OPDM patients reported in such countries as Japan, China, America, the Netherlands, Thailand, Turkey, Korea, England, Italy and Papua New Guinea [1–18,19 ▪▪ ,20 ▪▪ ,21,22 ▪▪ ,23,24,25 ▪▪ ]. As a rare form of muscular myopathy, the epidemiological characteristics of OPDM have never been investigated worldwide.…”

Section: Introductionmentioning

confidence: 99%

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Oculopharyngodistal myopathy

Deng

Wang

2022

Current Opinion in Neurology

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Purpose of reviewOculopharyngodistal myopathy (OPDM) is a rare adolescent or adult-onset neuromuscular disease that is characterized by progressive ocular, facial, pharyngeal and distal limb muscle weakness. The rimmed vacuoles and intranuclear inclusions in myofibers constitute the pathological hallmark of OPDM. In this review, the latest findings related to the genetic, molecular and clinical features of OPDM, as well as the diagnosis and management are summarized. Recent findingsFour gene mutations, CGG repeats in the 5'-untranslated region of LRP12, GIPC1, NOTCH2NLC and RILPL1 have been reported to be disease-causing genes in OPDM, namely OPDM1, OPDM2, OPDM3 and OPDM4, accordingly. So far, limited studies have suggested that CGG repeat expansion within the pathogenic range may play a key role in the pathogenesis of OPDM with the gain-of-function mechanism at the RNA and/or protein level, while repeat expansion over a threshold limit may cause hypermethylation, leading to the transcriptional silencing of the CGG repeats in the expanded allele, which results in the existence of mild phenotype or asymptomatic carriers.

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Section: Managementmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Oculopharyngodistal myopathy

Deng

Wang

2022

Current Opinion in Neurology

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“…Each type of distal muscular dystrophy has its own presentation so management of the disease changes according to the clinical concern. Occupational therapy, physiotherapy and some types of braces may be effective when there isdistal muscular involvement, while surgical therapy may be requiredforocular involvement, especially in cases where there is severe blepharoptosis and facial palsy (Shimizu et al 2013).…”

Section: Distal Muscular Dystrophymentioning

confidence: 99%

Ocular findings in muscular dystrophies

Evliyaoglu¹,

Burakgazi²

2015

J. Med. Med. Sci

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Muscular dystrophies are a heterogeneous class of inherited disorders presenting with different clinical, genetic, and biochemical features. Muscular dystrophies include Duchennemuscular dystrophy (DMD) and Becker muscular dystrophy (BMD) myotonic dystrophy (DM), oculopharyngeal muscular dystrophy (OPMD), facioscapulohumeral muscular dystrophy (FSHD), limb-girdle muscular dystrophy (LGMD), distal muscular dystrophy, and congenital muscular dystrophy (CMD)types, each with a wide spectrum of clinical manifestations. Those muscular dystrophies can have similar symptoms or unique and specific presentations. This abstract will review the prevalence, clinical presentation, and management of ocular findings in certain muscular dystrophies.

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Surgical treatment of severe blepharoptosis and facial palsy caused by oculopharyngodistal myopathy

Cited by 2 publications

References 10 publications

Oculopharyngodistal myopathy

Oculopharyngodistal myopathy

Ocular findings in muscular dystrophies

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