Oculopharyngeal muscular dystrophy: a case report and review of the literature.
نویسندگان
چکیده
Oculopharyngeal muscular dystrophy is an infrequent, not widely known entity. Of genetic origin, it usually shows up in the 5th or 6th decade of life. Most cases are referred directly to the gastroenterologist by their general practitioner and not to the otolaryngologist, so it is essential to be aware of this disease to suspect it. We report a case diagnosed and treated in our hospital and we review the literature.
منابع مشابه
Association of Limb-Girdle muscular dystrophy with multiple sclerosis: A case report
Background: The association of limb-girdle muscular dystrophy (LGMD) with other neurological disorders is uncommon. Case presentation: We report a 25-year-old female with LGMD who suffered from slowly progressive proximal muscular weakness and atrophy since she was 12 years of age. The patient recently presented with acute loss of left side visual acuity. After evaluation, findings were sugges...
متن کاملOculopharyngeal muscular dystrophy as a rare differential diagnosis for unexplained dysphagia: a case report
INTRODUCTION We wish to report on a rare cause of dysphagia; oculopharyngeal muscular dystrophy (OPMD). It is a late adult onset autosomal dominant form of muscular dystrophy that constitutes as a rare diagnosis for any place outside of Canada and first case in southern Germany. CASE PRESENTATION We report the medical odyssey of a 57-year old male Caucasian patient. He was referred at our hos...
متن کاملOcular findings in muscular dystrophies
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), dist...
متن کاملOculopharyngeal muscular dystrophy misdiagnosed as myasthenia gravis: Case report and review of literature
Oculopharyngeal muscular dystrophy (OPMD) is an adult-onset disease with eyelid ptosis, progressive dysphagia, and proximal limb weakness. Despite recent advances in understanding of its molecular basis, it seems that OPMD remains under diagnosed or delayed in diagnosis.1 This could be due to slow progression of this disease, low prevalence of 1:1000002 or low attention of neurologists that may...
متن کاملOculopharyngeal muscular dystrophy or oculopharyngeal distal myopathy: case report.
a Universidade Federal de São Paulo (UNIFESP), Fellowship em Otorrinolaringologia Pediátrica, São Paulo, SP, Brazil b Universidade Federal de São Paulo (UNIFESP), Fellowship em Laringologia, São Paulo, SP, Brazil c Universidade Federal de São Paulo (UNIFESP), Departamento de Fonoaudiologia, São Paulo, SP, Brazil d Universidade Federal de São Paulo (UNIFESP), Departamento de ORL-CCP, São Paulo, ...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید
ثبت ناماگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید
ورودعنوان ژورنال:
- Acta otorrinolaringologica espanola
دوره 63 6 شماره
صفحات -
تاریخ انتشار 2012