A 55-year-old man had had muscle complaints for as long as he could remember. He could not stretch his arms or walk without shoes due to deformities of the feet. Proximal muscle weakness was mild and slowly progressive over years, and contractures had always been prominent. His stamina was low, but he still worked full-time as a manual worker. He was otherwise healthy.

Family history revealed that his father was similarly affected. In addition, a half-brother and half-sister not only had contractures but also had muscle weakness. The latter underwent surgery for torticollis in the neonatal period.

After a normal pregnancy without hydramnios, delivery of a healthy-looking girl was uneventful. At four months of age, she had had a respiratory infection and was noted to have a weak cough. At eight months of age she was just able to keep her head in an upright position but was not able to sit unsupported. Her mother admitted that she had not been very active since birth, but there was no progressive muscle weakness and no swallowing difficulty. She was referred to a paediatric neurologist because of a suspected neuromuscular disorder. The parents were healthy and there was no consanguinity.

A 76-year-old man was referred with a diagnosis of ‘motor neuron disease’ or ‘polyneuropathy’. For about eight months he had noticed progressive muscle weakness in his right leg associated with pain, initially more intense than at referral, and a numb feeling around the right knee. Two years previously his left hand had become weak and wasted, associated with loss of sensation of the ring finger, the little finger, and the ulnar part of the palm of his hand. He had lost weight (5 kg) unintentionally over the past six months. He had always been very active, but was now no longer able to walk his dog or do some gardening. He was recently diagnosed with diabetes mellitus (DM) for which oral antidiabetics were prescribed. Family history was unremarkable.

Since early childhood, a 22-year-old-man had difficulty keeping up with his peers at gym class activities. He noticed increasing weakness in his leg muscles when getting up the stairs, and gradually his arm muscles were also involved. He had noticed rolling movements of his thigh muscles triggered by exercise and squeezing the muscles.

Family history was positive: his brother, mother, maternal grandfather, maternal aunt, and nephew had similar complaints.

A 60-year-old woman was referred because from the age of 50 years onwards she experienced muscle weakness that led to increasing difficulty in climbing stairs. In addition, she complained about exercise-induced myalgia.

History included cataract surgery at the age of 58 years, and lately, unexpected and unexplained falls. Family history revealed early-onset cataract in several paternal family members. Her father and brother had died suddenly and unexpectedly despite a pacemaker.

The main aim of a first consultation will concentrate on establishing a diagnosis. However, there are two other major aims: capturing the expectations of the patient and appreciating the impact of the complaints on daily life.

A 41-year-old male was referred with a six-month history of progressive, exercise-related muscle pains, cramps, and muscle weakness. He also was found to have hyperCKaemia. His past medical history was unremarkable, and the family history was negative for neuromuscular disorders.

A 24-year-old man is the youngest of five children and of Turkish origin, who since the age of five years had noticed that he was not able to fully extend his arms. Furthermore, his Achilles tendons were taut. His previous history was unremarkable. An older brother had similar symptoms. Both had no cardiac symptoms. His parents were not affected.

A 23-year-old man gradually noticed slowly progressive difficulty running and climbing stairs and therefore he was referred. In retrospect, he had a hollow back since age 10, and when running, he had had difficulty keeping up with his peers. He had a younger brother with similar complaints. Serum CK activity was elevated (15 × ULN). EMG, which had been carried out by the referring neurologist, showed small motor unit action potentials.

A 12-year-old boy had a three-year history of exercise-induced pain in his limbs; in particular, the shoulders, elbows, and knees were affected. For six months he had also experienced loss of strength. He noted difficulty with walking and cycling and was hardly able to climb stairs. He developed toe walking and complained about an itchy skin rash with focal depigmentation at his neck and trunk, diagnosed as eczema. He did not complain about swallowing difficulty, yet he became cachexic because his nutritional intake was lagging, and he suffered from mood swings.

Previous history was unremarkable. His parents were healthy, as was his older brother.

A 64-year-old man suffered from progressive swallowing difficulty, in particular of solid food. There was a feeling of food getting stuck. He needed to take small bites and coughed while he was eating. Choking occurred frequently, and sometimes food came out his nose. He lost 7 kg over the past year. Gradually, drinking also became difficult. His GP first referred him to an ENT specialist and subsequently to a gastroenterologist who referred him to a neuromuscular centre. He was treated with Botox injections in the cricopharyngeal muscle, and this ameliorated his swallowing problems for about a year. He did not complain about limb weakness, diplopia, drooping eyelids, slurring of speech, shortness of breath, or muscle twitching. Family history was unremarkable.

A 40-year-old woman was referred because she complained about cramping and swelling of the hands and leg muscles for more than four years. The referring neurologist also found hyperCKaemia (> 10 × ULN). The symptoms bothered her when using her computer or when she was performing squats. She had never produced dark urine and she had never noticed muscle weakness. Previous disease history was inconspicuous except for goiter. The family history was negative for neuromuscular disorders.

A 58-year-old man had to give up his weekly swimming club as gradually he could no longer keep up with his peers and had difficulty climbing out of the water. He had always been a keen hiker, but for the past four years had to shorten the distance. His body weight increased. Six months prior to referral he sprained his ankle after stumbling over a threshold. In the dark, he had difficulty finding his way to avoid falling. He tended to choke when drinking a cup of tea. His mother’s deceased brother had become wheelchair dependent after retiring.