Distrofia oculofaríngea complicada con desnutrición y neumonía aspirativa / Oculopharyngeal dystrophy complicated with malnutrition and aspiration pneumonia

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Reporte de familia: distrofia muscular oculofaríngea / Family report: Muscular Dystrophy Oculopharyngeal

Antecedentes: La Distrofia Muscular Oculofaríngea es un trastorno hereditario de rara ocurrencia. Este síndrome se caracteriza fundamentalmente por ptosis palpebral progresiva, disfagia y debilidad proximal de las extremidades. Casos Clínicos: Se presenta una familia en la cual se encontraron dos casos afectados, en la confección del árbol genealógico se encontró consanguineidad entre los padres apoyando la existencia de un posible patrón hereditario para esta alteración. Conclusión: El conocimiento de esta entidad es fundamental para sospecharla, por lo infrecuente de esta condición y las pocas publicaciones en la literatura latinoamericana de estos casos se presenta la siguiente revisión...(AU)

Ptose miogênica na distrofia muscular oculofaríngea / Miogenic ptosis in oculopharyngeal muscular dystrophy

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.

Oculopharyngeal Weakness, Hypophrenia, Deafness, and Impaired Vision: A Novel Autosomal Dominant Myopathy with Rimmed Vacuoles / 中华医学杂志(英文版)

<p><b>BACKGROUND</b>Myopathies with rimmed vacuoles are a heterogeneous group of muscle disorders with progressive muscle weakness and varied clinical manifestations but similar features in muscle biopsies. Here, we describe a novel autosomal dominant myopathy with rimmed vacuoles in a large family with 11 patients of three generations affected.</p><p><b>METHODS</b>A clinical study including family history, obstetric, pediatric, and development history was recorded. Clinical examinations including physical examination, electromyography (EMG), serum creatine kinase (CK), bone X-rays, and brain magnetic resonance imaging (MRI) were performed in this family. Open muscle biopsies were performed on the proband and his mother. To find the causative gene, the whole-exome sequencing was carried out.</p><p><b>RESULTS</b>Disease onset was from adolescence to adulthood, but the affected patients of the third generation presented an earlier onset and more severe clinical manifestations than the older generations. Clinical features were characterized as dysarthria, dysphagia, external ophthalmoplegia, limb weakness, hypophrenia, deafness, and impaired vision. However, not every patient manifested all symptoms. Serum CK was mildly elevated and EMG indicated a myopathic pattern. Brain MRI showed cerebellum and brain stem mildly atrophy. Rimmed vacuoles and inclusion bodies were observed in muscle biopsy. The whole-exome sequencing was performed, but the causative gene has not been found.</p><p><b>CONCLUSIONS</b>We reported a novel autosomal dominant myopathy with rimmed vacuoles characterized by dysarthria, dysphagia, external ophthalmoplegia, limb weakness, hypophrenia, deafness, and impaired vision, but the causative gene has not been found and needs further study.</p>

Fisioterapia respiratória na distrofi a muscular oculofaríngea / Physical therapy in respiratory oculopharyngeal muscular dystrophy

O objetivo deste estudo foi analisar a infl uência dafi sioterapia respiratória através das respostas do Peak Flow e oManovacuômetro antes e depois de um período de quatro anos defi sioterapia respiratória na Clínica Escola de Fisioterapia do UNIFAEem uma paciente com distrofi a muscular oculofaríngea (DMO),atendida na Clínica Escola de Fisioterapia do Centro Universitáriodas Faculdades Associadas de Ensino (UNIFAE). Métodos: Foirealizado um estudo de caso com análise de prontuário da pacientedo sexo feminino, 57 anos, fumante, com diagnóstico de DMO.Resultados: Após tratamento, foram observados aumentos signifi cativosentre o valor inicial e fi nal dos resultados obtidos no Peak Flowe Manovacuômetro, mostrando uma redução de obstrução das viasaéreas e um aumento na força da musculatura inspiratória mesmosendo uma doença de caráter progressivo. Conclusão: Os resultadosdeste estudo mostram que a paciente com DMO, após tratamentode fi sioterapia respiratória, obteve melhora da capacidade respiratóriae física pela maior resistência à fadiga, em consequência do aumentoda força da musculatura inspiratória observado nos valores obtidosatravés do manovacuômetro e com menor grau de obstrução dasvias aéreas de acordo com os valores obtidos através do Peak Flow...

The aim of this study was to analyze the infl uenceof respiratory therapy through Peak Flow and the Manovacuometerresponses in a female patient with Oculopharyngeal Muscular Dystrophy(OPMD) before and after four years of respiratory therapyin the School of Physical Th erapy Clinic of Centro Universitáriodas Faculdades Associadas de Ensino (UNIFAE). Methods: We conducteda case study with analysis of records of a female patient, 57years, smoker, diagnosed with OPMD. Results: Although OPMDis a progressive disease, we observed signifi cant increases betweenbaseline and fi nal results on Peak Flow and Manovacuometer, showinga reduction of airway obstruction and an increase in musclestrength. Conclusion: Th e results of this study show that the patientwith OPMD, after respiratory therapy treatment, improved physicaland breathing capacity due to more resistance to fatigue as aresult of an increase in inspiratory muscle strength observed in themanometer values and a lower level of airway obstruction accordingto the peak fl ow values...

Distrofia muscular oculofaríngea: tratamiento quirúrgico / Surgical treatment of oculopharyngeal muscular dystrophy: report of two cases

Oculopharyngeal muscular dystrophy (OPMD) is a rare myopathy that is characterized by ocular and pharyngeal muscle involvement. OPMD typically presents with ptosis, dysarthria, and dysphagia. It can also be associated with proximal and distal extremity weakness. We report two patients with the disease. A 79 years old female presenting with ptosis, dysphagia and a history of three aspiration pneumonias. The patient was subjected to a myotomy of the cricopharyngeal muscle of 4.5 cm of length. The patient had a symptomatic improvement and is in good conditions five months after the operation. A 75 years old male presenting with dysphagia and ptosis. He was operated, performing a myotomy of the cricopharyngeal muscle of 3.5 cm of length. Two and a half months after operation the patient is devoid of dysphagia.

La distrofia muscular oculofaríngea (DMOF) es una enfermedad de carácter hereditario, que cursa con disfagia, ptosis palpebral y debilidad proximal de las extremidades. Para su valoración la realización de manometría y estudio radiológico contrastado pueden ser de gran utilidad a pesar de que el diagnóstico de seguridad se obtiene por el estudio genético del gen PABPN1 del cromosoma 14. La enfermedad se desarrolla al sufrir este gen pequeñas expansiones en el triplete (GCG)7-13. Presentamos dos pacientes diagnosticados genéticamente de DMOF, uno de herencia autosómica dominante y otro de herencia autosómica recesiva, ambos tratados mediante miotomía del cricofaringeo debido a la intensidad de la disfagia. En ambos casos se obtuvo una mejoría clínica evidente después de la intervención.

Frontalis Suspension Using a Silicone Rod in Blepharoptosis Patients with Poor Ocular Motility

PURPOSE: To determine the efficacy of frontalis sling operation with silicone rods in patients with compromised corneal protective mechanisms. METHODS: The authors retrospectively studied 6 consecutive patients (7 eyelids) with severe blepharoptosis with poor ocular motility who had undergone frontalis sling operations using silicone rods. RESULTS: Preoperative diagnoses included third nerve palsy in 4 patients, double elevator palsy in 1 patient, and suspicious oculopharyngeal muscular dystrophy in 1 patient. With a mean follow up of 27.7 months, a good final lid height was achieved in all 7 eyelids. Mild exposure keratopathy occurred postoperatively in 3 patients. During the follow-up period, no other significant complications, such as extrusion of the sling or infection, occurred. CONCLUSIONS: Silicone rods are effective and safe materials for use in frontalis suspension in treating blepharoptosis in patients with inadequate or absent Bell's phenomenon, resulting in poor eye protective mechanisms associated with an increased incidence of corneal exposure.

A Case of Oculopharyngeal Muscular Dystrophy Due to a Novel Mutation of the PABPN1 Gene

We recently encountered a Korean patient with oculopharyngeal muscular dystrophy (OPMD). His major clinical manifestations were late onset bilateral ptosis, dysarthria, and dysphagia. Direct sequencing analysis of the PABPN1 gene demonstrated a heterozygous insertion of 9 bp sequence [(GCG)(GCA)(GCA); c.28insGCGGCA GCA], resulting in an in-frame insertion of 3 alanines (p. A10insAAA). To our knowledge, this is the first report of a genetically confirmed case of OPMD in Korea.

Oculopharyngodistal myopathy in a Thai family.

There has been controversy whether oculopharyngodistal myopathy (OPDM) commonly seen in Japan is a distinct disease entity or a variant of oculopharyngeal muscular dystrophy (OPMD) initially described in French-Canadians and has since been reported in other ethnic groups. Both diseases have autosomal dominant inheritance and OPDM patients are clinically similar to OPMD with slowly progressive ptosis, ophthalmoplegia and dysphagia except that most of the former usually have distal as opposed to proximal weakness and most of them are genetically different from the latter The authors report here 2 siblings with clinical features of OPDM. This entity is rare outside Japan and this is the first family to be reported from Thailand

Distrofia muscular oculofaríngea: estudio de una familia / Muscular oculo-pharyngeal dystrophy: a study in one family

La Distrofia Muscular Oculofaríngea es un trastorno hereditario de rara ocurrencia. Este síndrome se caracteriza fundamentalmente por alteraciones oftalmológicas, musculares y digestivas entre otras. Se presenta una familia en la cual a partir del caso control se fueron detectando otros familiares afectados, con un cuadro clínico similar o con signos y síntomas incipientes de la enfermedad, demostrándose la existencia de un patrón de herencia autosómica dominante para esta alteración. Por lo infrecuente de esta enfermedad, en la cual, los trastornos se van agudizando de manera progresiva, llegando a ser invalidantes para el paciente y además por su carácter hereditario se pone a consideración de otros especialistas esta familia

Correction of blepharoptosis in oculopharyngeal muscular dystrophy: cases in one family

Oculopharyngeal muscular dystrophy is a hereditary, autosomal dominant, slowly progressive disorder with middle age onset, major symptoms are ptosis and dysphagia mainly due to selectively involved levator palpebrae and the pharyngeal muscles. Progressive, usually symmetric blepharoptosis with or without dysphagia appears in middle age. Limb muscular weakness can be noted in some patients. This report describes 4 cases of oculopharyngeal muscular dystrophy in one family. All patients presented with slowly progressive bilateral ptosis and slight weakness of facial and bulbar muscles. The ptosis was severe in all cases at the time of surgery and levator resection was done via transcutaneous approach. The surgical result was satisfactory with all patients after 1 year follow-up.

A case of oculopharyngeal muscular dystrophy: electrophysiological review

No abstract available.

A Case of Oculopharyngeal Muscular Dystrophy

Oculopharyngeal muscular dystrophy, one of the variants of chronic progressive external ophthalmoplegia, is a disorder characterized by progressive bilateral ptosis, immobility of the eyes and dysphagia. We have experienced a 46-year-old woman complaining of bilateral ptosis, mild dysphagia and immobility of the eyes. Oculopharyngeal muscular dystrophy was confirmed by clinical, electromyographic and histopathologic examination. Therefore, we report a case of oculopharyngeal muscular dystrophy with review of literatures.

A Case of the Oculopharyngeal Muscular Dystrophy

The oculopharyngeal muscular dystrophy is a distinct, clinically well-defined myopathy of later life inherited in an autosomal dominant fashion with complete penetrance. Blepharoptosis, dysphagia, lower leg weakness are the most prominent findings. It is a systemic myopathy which affects all voluntary muscles and appears to spare smooth and cardiac muscle. The authors experienced a case of the oculopharyngeal muscular dystrophy which showed characteristic signs and symptoms such as symmetric ptosis, dysphagia, and progressive external ophthalmoplegia, and the literature were reviewed.

A Family of Oculopharyngeal Muscular Dystrophy and it's HLA Typing

The authors presented a family whose 4 siblings had been suffered from oculopharyngeal muscular dystrophy of autoscmal recessive trend, with symptoms of progressive ptosis, external ophthalmoplegia, dysarthria, dysphagia and facial muscle atrophy, and we performed HLA study on these 9 family members which showed no interrelationship between oculopharyngeal muscular dystrophy and HLA Haplotypes.

Two Cases of Oculopharyngeal Muscular Dystrophy in One Family

The authors encountered 2 siblings who showed progressive ophthalmoplegia and bulbar palsy. The patients were studied with various laboratory aids and thought to be as oculopharyngeal muscular dystrophy. The oculopharyngeal muscular dystrophy is a rare form of muscular dystrophy. The authors present the cases as familial oculopharyngeal muscular dystrophy.