Family report: Muscular Dystrophy Oculopharyngeal
Keywords:
Oculopharyngeal muscular dystrophy, Myopathy, GeneticsAbstract
Backgrounds: Oculopharyngeal Muscular Dystrophy is an inherited disorder of rare occurrence. This syndrome is characterized primarily by progressive eyelid ptosis, dysphagia and proximal limb weakness. Case: We present a family in which there are two cases affected, in building the family tree, consanguinity was found between parents, this is supporting the existence of a possible hereditary pattern for this condition. Conclusion: Knowledge of this entity is required to be suspected, because this condition is rare and there are few publications in Latin American literature of these cases.
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