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Oculopharyngeal dystrophy (OPD, or oculopharyngeal muscular dystrophy) is an autosomal dominant disorder which appears in early middle age in individuals with a mutation on the PABPN1 gene.[1][2]
Progressive ptosis (drooping) of the extraocular muscles is the initial clinical finding which continues until paralysis of all eye movements occurs; however, pupillary reactions remain unaffected. Dysphagia (difficulty swallowing), facial weakness and proximal limb weakness develops later on in the disease. When investigated in a laboratory, findings include high creatine phosphokinase (CPK) levels (approximately 5 times that of normal levels). A muscle biopsy reveals abnormal vacuoles within muscle fibres. A distinction between OPD and myasthenia gravis or mitochondrial myopathy must be made, in which ptosis is also a symptom. Treatment is supportive to the patient with death eventually occurring from infections. Difficulty with swallowing may result in nasogastric feeding.[1]
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