45 y/o woman to non-consanguineous parents and without significant past medical history who was referred to neurology clinic for slowly progressing proximal lower extremity weakness. At age 17, she had difficulties in running long distance or participating in gymnastics. Her weakness progressed slowly and at age 35 she experienced trouble going up or down the stairs without holding onto the rails. Her older brother had similar but more severe symptoms, which started at the age of 12. Initially both were diagnosed as limb-girdle muscular dystrophy.
Physical exam showed high arched palate, scoliosis, and joint hypermobility. Limited ankle dorsiflexion to 90 degrees. Normal cranial nerve exam except for palatal weakness and mild neck flexion weakness (5-/5). No ptosis or facial weakness. Mild weakness of proximal upper extremity (deltoid and biceps 5-/5 and triceps 4/5) and normal strength distally. Hip flexion 4/5, knee extension and foot dorsiflexion 5-5/ and normal foot planter flexion. Intact sensation. Reflexes ¼ in the upper and trace in the lower extremities.
Lab showed normal CK (113 IU/ml)) and thyroid function. Unremarkable lumbar spine MRI.