A 54-year-old man was referred by his GP. He had lived with his mother until her death when he was 47 years old. He then moved into an assisted living facility. His father had died in his early 30s in a car accident. A sister was said to have died of a muscle disease and a brother had reportedly died of a heart attack at age 35 years. A niece from his father’s side was also reported to have a muscle disease. Apart from having difficulties opening his hands since childhood (upon request) he had had no complaints until his late thirties, when he experienced muscle weakness. This hampered him during his full-time work as a groundskeeper in public gardens, but he continued working. Two months ago, however, he had to give up this job because of severe fatigue and increasing generalized weakness.

A 7-year-old girl visited the outpatient clinic because of difficulty walking. She had never managed to run properly, and experienced frequent falls ever since she began walking independently at the age of 18 months. Jumping was not possible, and when stepping up or down, she needed support below her arms. There was no fluctuation of symptoms during the day, but she had suffered from periods that could last several weeks in which using the stairs was completely impossible. She was unable to blow up a balloon and her speech was slow and poorly articulated. There were no complaints about chewing or swallowing. She had a healthy non-identical twin sister and the family history was unremarkable.

A 70-year-old woman was referred by her GP because of progressive nasal speech and difficulties with chewing and swallowing, shortly after abdominal surgery because of a borderline malignant cystoadenofibroma of the uterus. Weeks later, she also noticed drooping of both eyelids and a tendency for her head to drop at the end of a day. In retrospect, mild nasal speech had been present for some months prior to surgery.

A 68-year-old woman was referred because of slowly progressive difficulty climbing stairs. Four years earlier, she had had ptosis surgery of both eyes. Her mother had been diagnosed with progressive external ophthalmoplegia at the age of 69 years. She denied having swallowing difficulties, but her daughter stressed that eating biscuits took her much longer than others.