ABSTRACT
Objective:To study the clinical, imaging and genetic characteristics of two Chinese families with oculopharyngeal muscular dystrophy (OPMD).Methods:The clinical data of the two families found in our hospital in August 2016 and May 2018 were analyzed. All the members were investigated in detail, and the clinical and imaging data of the probands were analyzed. Blood samples were collected from 22 members of the two families and PABPN1 gene analysis was performed. Results:There were 4 patients in family 1 with four generations and 4 patients in family 2 with three generations. The two probands presented ptosis, dysphagia at the age of 50 and 55. The proband of family 1 also showed diplopia, amyotrophy, weakness of proximal limbs, neurogenic changes in electromyogram (EMG), muscle fibers with rimmed vacuoles in muscle pathology, aspiration pneumonia in chest CT, and brainstem symmetric white matter lesions in cranial MR imaging. The proband of family 2 also showed eye muscle paralysis and lateral limb weakness, myogenic changes in EMG, bilateral parietal and right frontal lacunar infarctions in cranial MR imaging. Analysis of PABPN1 gene showed that the repeated mutation of PABPN1 trinucleotide (GCN) in 2 families was amplified from normal (GCG) 6(GCA) 3(GCG) to (GCG) 6(GCA) 3(GCG) 2(GCA) 3(GCG). Conclusion:OPMD has clinical heterogenicity; symmetrical white matter lesions in the brainstem might be found in cranial MR imaging; Chinese patients with OPMD have PABPN1 gene mutation, specificly manifested as (GCG) 6(GCA) 3(GCG) 2(GCA) 3(GCG) repeat mutations.
ABSTRACT
La distrofia muscular oculofaríngea es un raro trastorno genético caracterizado clínicamente por ptosis palpebral y dificultades deglutorias. Con este trabajo se pretende hacer una descripción detallada de un caso particular, poniendo de manifiesto la relevancia de los hallazgos electromiográficos, además se propone realizar una exhaustiva revisión bibliográfica sobre el tema. Fue un estudio clínico, neurofisiológico y molecular de una paciente de 82 años remitida a la Unidad de Neurofisiología Clínica por ptosis palpebral bilateral y disfagia progresiva. El estudio electromiográfico objetivó la existencia de una miopatía de predominio facial y el estudio molecular confirmó la existencia de una expansión patológica de 12 repeticiones en el tracto poli-alanina del gen PABPN1. La distrofia muscular oculofaríngea es una enfermedad infradiagnosticada que puede pasar desapercibida, simulando otros procesos patológicos. Un riguroso estudio neurofisiológico es fundamental para llevar a cabo un diagnóstico de sospecha así como para orientar el posterior diagnóstico molecular.
Oculopharyngeal Muscular Dystrophy is a rare genetic disorder characterized clinically by ptosis and deglutition difficulties. This work aims to give a detailed description of a particular case highlighting the relevance of the electromyographic findings in addition to a comprehensive literature review on the topic. Clinical, neurophysiological and molecular study of 82 years old patient referred to Clinical Neurophysiology Unit for progressive bilateral ptosis and dysphagia. The electromyographic study aimed the existence of a facial myopathy prevalence and molecular study confirmed the existence of a pathological expansion of 12 repetitions in the poly-alanine tract PABPN1 gene. Conclusions: Oculopharyngeal Muscular Dystrophy is an underdiagnosed disease that may go unnoticed by simulating other pathological processes. A rigorous neurophysiological study is essential to conduct a suspected diagnosis and to guide further molecular diagnostics.
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Objective To analyse the clinical and pathological characteristics of patients with myopathies that were misdiag-nosed as myasthenia gravis because of external ophthalmoplegia ,widen the thoughts for differential diagnosis of extraocular muscle paralysis .Methods The clinical and pathological features of 11 myopathy cases with ptosis and diplopia admitted to the neurology department of the First Affiliated Hospital of Chongqing Medical University between October 2010 and May 2014 were retrospec-tively reviewed and analyzed .Results Among the 11 patients ,6 male and 5 female ,aged 16-66 years old .All had paralysis of ex-traocular muscle manifestations ,including oculopharyngeal muscular dystrophy(OPMD) in 3 cases ,oculopharyngeal distal myopa-thy in 2 cases ,chronic progressive external ophthalmoplegia(CPEO) in 6 cases .Muscle biopsy showed the characteristic pathologi-cal changes .Statistical analysis showed that the age of onset in OPMD patients was older(P0 .05) .Conclusion Certain rare myopa-thy should be considered for patients with external ophthalmoplegia seemingly myasthenia gravis .Muscle biopsy can provide clue for differential diagnosis .
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Objective To investigate the clinical and molecular genetic changes in a Chinese family with oculopha?ryngeal muscular dystrophy(OPMD). Methods We collected the clinical data of the familial members and blood sam?ples from all available 16 familial members, including the proband. The samples were analyzed using modified poly?merase chain reaction amplification and direct sequence analysis. Results Male OPMD patients initially presented with ptosis, followed by pronunciation difficulty, dysphagia and limb weakness whereas female OPMD patients initially pre?sented with swallowing difficulty. Genetic test revealed the abnormal expansions of the GCG trinucleotide repeat from GCG6 to GCG10 in PABPN1 gene in 10 familial members. Conclusions The genetic test and prenatal diagnosis is the key for the prevention treatment of oculopharyngeal muscular dystrophy. The ptosis of eyelid may be the initial symptom for the male patients of oculopharyngeal muscular dystrophy with (GCG)10 mutation.
ABSTRACT
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.