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A 62-year-old man reported slowly progressive symptoms over a period of two years. He could no longer walk steadily and developed numb feelings on the soles of both feet and a tremor of both hands. He was not known to have diabetes and ate a healthy, balanced diet, drank one glass of alcohol a day, and had not been treated with neurotoxic medication.
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 50-year-old man was initially seen by a rheumatologist because he had crooked fingers on the left hand and painful cramps. No rheumatological abnormalities were found. In the next three years, he developed severe atrophy and weakness of the left hand, and could not hold a glass of water. There were no sensory complaints. His GP considered motor neuron disease.
A previously healthy 13-year-old boy was referred because of fatigue and progressive weakness in the legs for one month. His right leg seemed more affected than the left one. He also had difficulty getting up from his bed and needed support of the arms. For one week, strength in the arms also decreased. When looking in the mirror, he had the impression that there was thinning of the upper arms and legs. He had lower back pain as well as nonradiating pain in the knee cavities, especially at night. He also had significant weight loss, from 40 to 35 kg. There had been no previous illness, skin changes, or insect bites.
A 24-year-old woman had difficulty with walking since early childhood. At age 18 months she was able to walk without support. She often stumbled and could not keep up with her peers in gym class. However, she still had been able to walk 5 km during a four-day walking event. Management included physiotherapy, and she had orthopaedic shoes. She underwent surgery at age eight years (tendon repositions of both feet). Family history was not available because she was adopted. Previous history includes bilateral congenital hip dysplasia and congenital hypothyroidism.
At about the age of 40, the patient noticed difficulty playing tennis. He could no longer hop easily from one leg to the other. After a game, he experienced pain in both legs. At age 43, he stopped taking part in competition, and five years later had to give up playing altogether. At that time, he sometimes missed the brake and accelerator pedals of his car. Walking became increasingly difficult. Sometimes he almost fell due to weakness of his left leg, and he had to use a walking stick. From the age of 50 onwards he used a wheelchair for outdoor transportation. At 52, he could only work part-time as his dexterity decreased. Urinary continence was not an issue, but when he felt the urge, he had to rush to the toilet. His family history was not informative.
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.
There are over 800 neuromuscular disorders and this can leave clinicians feeling lost as they try to diagnose and manage patients. On the basis of 66 adult and paediatric neuromuscular case vignettes, readers will be walked through using case histories and clinical manifestations as a starting point for diagnosis. For each case, diagnostic tools, disease pathogenesis, prognosis and treatment options are discussed. Symptoms, signs and syndromes are cross-linked to help the reader navigate the array of disorders. Accompanying tables explain differential diagnoses and 30 videos demonstrate clinical features. This second edition has been thoroughly updated as the neuromuscular subspecialty has developed from clinically and pathologically descriptive to making use of new diagnostic technologies and therapies. Neurologists at all levels, paediatricians, internists, geneticists, rehabilitation physicians, physiotherapists and researchers in the field will find this an invaluable guide, as they seek to familiarise themselves with this complex range of disorders.
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