Lobulated fibers in a patient with 46-year history of limb-girdle muscle weakness.

A 78-year-old man presented with a 46-year history of slowly progressive muscle weakness. He had a past medical history of hypertension but had no familial history of neuromuscular disorders. He first noticed mild muscle weakness affecting his thigh at the age of 32 when he could not keep up with others during mountain climbing. The proximal muscle weakness worsened gradually to difficulty in climbing stairs after the age of 40, and progressed to involve his upper extremities when he could not raise his arms after the age of 50. When he first visited the clinic at the age of 57, physical examination revealed proximaldominant and symmetric muscle weakness with atrophy in his four limbs, pelvic and shoulder girdle muscles. He had no facial muscle involvement or calf muscle hypertrophy. He neither had cardiac nor respiratory abnormality. Serum creatine kinase (CK) level was 1774 (normal <200) IU/L. Electromyography was reported to be myogenic. He was diagnosed by skeletal muscle biopsy and genetic analysis at the age of 58. It became increasingly difficult for him to stand up at the age of 63. He started using a wheelchair but still could walk with a hand-rail at the age of 66. He could drive a car until the age of 74. Since the age of 75, he has been wheelchair-bound.