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1.
Rev. bras. oftalmol ; 75(1): 61-63, jan.-fev. 2016. graf
Article in English | LILACS | ID: lil-771117

ABSTRACT

RESUMO Relato de caso de distrofia muscular oculofaríngea, doença genética de herança autossômica dominante e uma das causas de ptose miogênica adquirida. A paciente apresentou quadro de ptose palpebral bilateral e disfagia, achados clínicos típicos da doença, foi submetida a tratamento cirúrgico da ptose, com bom resultado estético e funcional.


ABSTRACT The authors report a case of oculopharyngeal muscular dystrophy, an autosomal dominant genetic disease, which leads to miogenic ptosis. This patient presented bilateral palpebral ptosis and dysphagia and underwent ptosis surgical treatment, with a good functional and aesthetic result.


Subject(s)
Humans , Female , Middle Aged , Blepharoptosis/surgery , Blepharoptosis/etiology , Ocular Motility Disorders/surgery , Ocular Motility Disorders/etiology , Blepharoplasty/methods , Muscular Dystrophy, Oculopharyngeal/complications , Blepharoptosis/diagnosis , Deglutition Disorders , Ocular Motility Disorders/diagnosis , Muscular Dystrophy, Oculopharyngeal/diagnosis , Eyelids/surgery , Eyelids/pathology , Oculomotor Muscles/surgery , Oculomotor Muscles/pathology
2.
Rev. CEFAC ; 17(4): 1355-1361, jul.-ago. 2015. ilus
Article in Portuguese | LILACS | ID: lil-759463

ABSTRACT

Resumo:A Distrofia Muscular Oculofaríngea é uma miopatia hereditária de transmissão autossômica dominante, de início tardio, com sinais clínicos de ptose palpebral e disfagia orofaríngea, essa podendo estar associada à fraqueza muscular proximal. O presente estudo analisa a conduta fonoaudiológica em um caso de distrofia oculofaríngea. O sujeito atendido no ambulatório de Fonoaudiologia, desde março de 2013, com sessões quinzenais, frequência essa modificada para sessões semanais a partir de julho do mesmo ano. A terapia constituiu-se com os objetivos de: aprimorar a mobilidade das estruturas orofaciais; organizar a coordenação pneumofonoarticulatória; reavaliar frequentemente a disfagia, por meio do registro dos episódios de sinais e sintomas de disfagia na alimentação habitual, assim como, da verificação das consistências da dieta usual com manobra de segurança (queixo no peito); verificar o peso; utilizar o diário de distúrbios da deglutição, e orientar a realização dos exercícios orofaciais em casa. Houve estabilização do quadro clinico e do peso corporal durante o ano de atendimento, com posterior retomada de progressão da doença. O direcionamento clínico sugerido é de uma abordagem interdisciplinar, cuja contribuição da fonoaudiologia é do favorecimento para uma alimentação segura, a facilitação da comunicação oral e melhoria da qualidade de vida.


Abstract:The Muscular Dystrophy Oculo-pharyngeal myopathology is a hereditary autosomal dominant, late-onset, with clinical signs of ptosis and oral pharyngeal dysphagia, this may be associated to the proximal muscle weakness. This study examines the speech therapy conduct in a case of oculus-pharyngeal dystrophy. The subject was treated in the speech-language therapy outpatient since March 2013, with biweekly sessions, being changed to weekly sessions from July of the same year. The therapy consists of improving mobility of oral facial structures; organization of the pneumonic articulatory coordination; frequent revaluations of the swallowing disorders, with the register of the episodes of signals and symptoms of swallowing disorders in the habitual feeding, as well as, by the verification of the usual diet consistencies with security maneuver (chin-chest); weight check; using the habitual daily swallowing disorders diary, and orientation for the accomplishment of the daily oral facials exercises at home. She had stabilization of the clinical picture and the corporal weight during the year of attendance, with posterior retaken of disease progression. The suggested clinical aiming is of interdisciplinary boarding, having as contribution from speech and language therapy, the aiding of a safe feeding, the facilitation of the verbal communication and improvement of the quality of life.

3.
Chinese Journal of Neurology ; (12): 557-560, 2012.
Article in Chinese | WPRIM | ID: wpr-429231

ABSTRACT

ObjectiveTo investigate the clinical,myopathological and molecular changes in two Chinese families with oculopharyngodistal myopathy ( OPDM).MethodsWe performed muscle biopsy and histopathologic study on the probands of two families,and further examined molecular genetic testing on PABPN1 and GNE gene. Results Family 1 included 3 affected brothers in the same generation and family 2 involved 4 patients in 2 generations. Dysarthria rather than external ophthalmoplegia was the prominent oculopharyngeal symptoms for Chinese patients. No intranuclear inclusions were observed in ultrastructural examination.The number of GCG repeats in the PABPN1 gene was within normal range and no mutations were identified in the GNE gene.ConclusionsFamily 1 is the first publication on autosomal recessive OPDM in China.The age of onset of two families was comparable with Japanese patients and the pattern of muscle involvement was different. OPDM is a distinct phenotypical,histological,and genetic entity.

4.
Chinese Journal of Neurology ; (12): 702-706, 2010.
Article in Chinese | WPRIM | ID: wpr-387060

ABSTRACT

Objective To explore phenotypes and genotypes in 6 Chinese Han families with oculopharyngeal muscular dystrophy (OPMD).Methods There were 28 OPMD patients in 6 Chinese Han families, aged between 32 and 70 years old.The initial symptom was dysphagia in 13 patients, ptosis in 4 patients,lower limb weakness in 1 patient.Most OPMD patients displayed dysphagia and ptosis in 3-20 years after the initial symptom appeared.Biceps brachii biopsies were made in the 6 OPMD probands.The specimens were examined with histological, histochemical stainings and ultrastructural examination.The exon 1 of PABPN1 gene was sequenced in all probands of OPMD and some of their family members.Haplotype analysis was executed in the 6OPMD probands.Results Mild hypertrophy and hypotrophy of fibers and rimmed vacuoles were found in each probands of OPMD muscle biopsies.Intranuclear palisading filamentous inclusions only appeared in 4OPMD probands.Gene analysis identified (GCG)9 in exon 1 of PA BPN 1 gene was detected in 3OPMD families, while (GCG) 6 (GCA) 1 (GCG) 3, (GCG) 10 and (GCG) 8were in one family respectively.Two families with (GCG) 9 expansion shared a common rs2239579 (C) -(GCG) 9-SNP2622 (C) haplotype.Conclusions Dysphagia and ptosis may be the common initial symptoms in Chinese Han OPMD patients.Rimmed vacuoles and intranuclear inclusions may be the common pathological feature in the muscle fibers.Both (GCG) expansions and (GCA) insertion of PABPN1 gene could be detected in Chinese patients.The genetic heterogeneity and the haplotype of three (GCG)9 families in our patients indicate that OPMD arises from different origin within the Han population.Some families with the same (GCG)9 expansions probably come from a common ancestor.

5.
Chinese Journal of Neurology ; (12): 328-331, 2008.
Article in Chinese | WPRIM | ID: wpr-400348

ABSTRACT

Objective To report clinical,myopathological and genetic features in a family with oculopharyngeal muscular dystrophy(OPMD).Methods The proband,a 60 year-old man,presented proximal weakness of both lower limbs since 50 years old.He developed dysphagia and dysarthria after 53 years old and mild exophthalmos with ptosis after 57 years old.The serum creatine kinase was mildly elevated.Electromyography showed neurogenic involvement and the nerve conduction velocity decreased 20%-143%.Other 5 members in 3 generations developed also dysathria after 45 years old.followed by ptosis 4-20 years afterwards.Three of them showed mild limb weakness.Muscle was biopsied in the proband and specimen was examined with histological,enzymhistochemical,immunohistochemical stainings (first antibody were anti.desmin and ubiquitin antibedies) and ultrastructural examination.PABPN1 gene was sequenced in the proband and 18 family members.Results Rimmed vacuoles with ubiquitin positive material appeared in the muscle fibers.Additionally.there were a few angular atrophic fibers in small groups,COX negative fibers and desmin positive regenerative fibers.Intranuclear palisading filamentous inclusions were observed electromicroscopically in 3% of the nuclears.(GCG)6in PABPN1 was expanded to (GCG)9 in the proband and 11 members.Conclusions The onset symptoms is pharyngeal weakness in OPMD due to heterozygous expanding of PABPNl(GCG)9,accompanied with demyelinating neuropathy.Intranuclear inclusions are also identified in Chinese patient.

6.
Chinese Journal of Neurology ; (12)2005.
Article in Chinese | WPRIM | ID: wpr-542134

ABSTRACT

Objective To study the pathologic and molecular genetic characteristics of Chinese patients with oculopharyngeal muscular dystrophy(OPMD).Methods The ultrastructural muscle biopsies in 6 patients were carried out by using transmission electron microscopy.The DNA was obtained through blood samples from patients(n=11) and the at-risk individuals(n=16).Amplification of the PABPN1 gene mutation region was performed by polymerase chain reaction(PCR).The sequences were obtained and compared with the genomic sequence of the human PABPN1 gene.Results Intranuclear inclusions(INIs) were found by electron microscopy in 4 patients,and the rate of appearance was 18%,20%,34% and 40%.Sequence analysis of exon 1 of PABPN1 gene showed abnormal expansions of the GCG-repeat—(GCG)_8 and(GCG)_(10) in 9 patients.Conclusions INIs might be found by electron microscopy in muscle biopsies of OPMD patients.The rate of appearance of INIs should have positive relationship with the amount of the GCG-repeat.PABPN1 gene mutations might be present among Chinese patients with OPMD,and should have a negative relationship with the age of onset.

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