MRCP2-3074

MRCP2-3074

You are requested to assess a 26-year old female who has just given birth on the labour ward. Her baby boy was born with severe hypotonia and needed resuscitation and ventilation. Upon examination, she displays bilateral ptosis, global weakness (with more pronounced distal weakness), and bilateral cataracts. She mentions that her father had bilateral cataracts and passed away at the age of 59. What is the probable diagnosis for the mother?