MRCP2-3260
A 32-year-old woman is referred by her GP for neurological evaluation of muscle weakness and stiffness. Her mother also had similar problems and had died due to respiratory failure. She also gives a history of progressive visual impairment of a few years’ duration. The other problem is recurrent dislocation of her shoulder. She is a known diabetic on insulin and has recently attended the endocrinologist for evaluation of infertility.
On examination, she has bilateral cataracts, bilateral mild ptosis is evident and there is frontal balding. Ocular movements are normal but there is wasting of the temporalis, masseter and sternocleidomastoid muscles on both sides. Muscles of both hands are wasted and both wrists are weak. When you shake her hand she can only slowly relax her grip. There is bilateral foot drop and tendon reflexes are reduced.
What is the most likely diagnosis for this patient?