RESUMO
A 43-year-old woman presented at the age of 38 with joint pains and muscle stiffness. Tender points were found fulfilling ACR criteria (1) for fibromyalgia. She had well developed muscles and decreasing muscle power since the age of 35. Muscle pains increased after exercise. Her 10-year-old son had similar symptoms and one paralytic attack. Muscle pain and fatigue increasing with age were found by history in three close relatives. Forearm cold water test produced myotonia in both mother and son. Electromyography was normal and muscle biopsy showed minor unspecific changes. Biochemical investigation of muscle mitochondrial function was normal. Peroral potassium load test produced complete muscle paralysis at a potassium serum level of 5.0 mmol/l. Autosomal dominant hyperkalemic periodic paralysis was diagnosed. Frequent carbohydrate enriched meals, peroral bendroflumethiazide and restriction to submaximal exercise improved muscle and joint pain. Salbutamol peroral spray relieved the periodic weakness.
