Author/Authors :
Aryani, Omid Department of Medical Genetics - Special Medical Center, Tehran , Akbari, Mohammadreza Department of Neuro-Ophthalmology - Eye and Strabismus Research Center - Farabi Eye Hospital - Tehran University of Medical Sciences, Tehran , Aghsaei-Fard, Masoud Department of Neuro-Ophthalmology - Eye and Strabismus Research Center - Farabi Eye Hospital - Tehran University of Medical Sciences, Tehran , Mirmohammad-Sadeghi, Arash Department of Neuro-Ophthalmology - Eye and Strabismus Research Center - Farabi Eye Hospital - Tehran University of Medical Sciences, Tehran , Yadegari, Samira Department of Neuro-Ophthalmology - Eye and Strabismus Research Center - Farabi Eye Hospital - Tehran University of Medical Sciences, Tehran
Abstract :
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 diagnose and treat the disease as other neuromuscular disorders. Herein, we present a case of genetically approved OPMD in which the patient underwent unnecessary therapeutic intervention due to misdiagnosis of myasthenia gravis (MG) and then in regard to this case, explain some clinical clues to make the appropriate diagnosis.
Keywords :
Ptosis , Oculopharyngeal Muscular Dystrophy , Myasthenia Gravis , Diagnosis
