In his late twenties, a 30-year-old man reported difficulty with raising his arms and running, which had progressed over subsequent years. During his teens he had been a very good soccer player.

A 33-year-old man was referred because of winging of the right scapula. History taking disclosed that seven months prior to referral he had experienced excruciating pain in the neck, irradiating to the right arm and thumb. The pain, which was particularly severe in the right scapular region, kept him initially awake and lasted for approximately six weeks. A week after the pain had started, he noticed having difficulty raising his right arm and hand. The latter is no longer present but at referral he still had a right-sided winged scapula and sensory disturbances of the radial part of the right medial forearm and of part of his thumb. Family history was negative for neuromuscular diseases.

In her early forties, a 51-year-old woman first noticed fatigue when walking. She attributed this to hollowing of her back and a tendency to push her tummy forward. Later, she noticed difficulty and pain in lifting her right arm. She had never been able to whistle properly. Her parents and sisters did not have muscle complaints.