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DOK7 myasthenic syndrome with subacute adult onset during pregnancy and partial...

Santos, M; Cruz, S; Peres, J; Santos, L; Tavares, P; Basto, JP; Salgado, V; Herrero Valverde, A

DOK7 congenital myasthenic syndrome (DOK7-CMS) generally presents early in life and is treated with salbutamol or ephedrine. This report describes an atypical case of a 39-year-old woman who presented with proximal upper limb weakness in the third trimester of pregnancy and was initially diagnosed with seronegative myasthenia gravis. Dramatic clinical worsening under pyridostigmine and further inefficacy of ste...

Date: 2018   |   Origin: Repositório do Hospital Prof. Doutor Fernando Fonseca
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