Graves' disease, gastrointestinal dysfunction, and muscle weakness.
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Lambert-Eaton myasthenic syndrome was diagnosed in three patients, two men aged 55 and 57 and one woman aged 66 years. After a variable time interval a small cell carcinoma of the lung was detected in all three patients. Two already had metastases outside the thorax and died, the other patient was doing well after treatment with chemotherapy and radiotherapy. The short survival of patients with a small cell carcinoma requires early diagnosis, and paraneoplastic phenomena such as the Lambert-Eaton myasthenic syndrome can be the earliest presenting sign. The syndrome can be diagnosed by electromyography.
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We describe a new myopathy in a large family with 19 affected cases. Inheritance was autosomal dominant. Characteristic clinical features were congenital joint contractures, which normalized during early childhood, external ophthalmoplegia, and proximal muscle weakness. Muscle atrophy was most prominent in the pectoralis and quadriceps muscles. The clinical course was nonprogressive in childhood, but most adult cases experienced deterioration of muscle function, starting from 30 to 50 years of age. The major histopathological change of skeletal muscle in childhood was focal disorganization of myofilaments. In adults with progressive muscle weakness, the muscle biopsies showed dystrophic changes and rimmed vacuoles with cytoplasmic and intranuclear inclusions of 15- to 21-nm filaments. These findings suggests that this new disease should be classified as a variant of hereditary inclusion body myopathy.
Muscle weakness evolving rapidly over hours to days demands prompt diagnosis and proper treatment to prevent life-threatening respiratory insufficiency. Such weakness usually results from disease affecting some portion of the motor unit, such as poliomyelitis, Guillain-Barré syndrome, botulism, and dyskalemic myopathy. The differential diagnosis of these processes is discussed.
Rigid spine syndrome (RSS) is a rare myopathic ailment characterized by mild axial and proximal muscle weakness. Muscle contraction in these patients causes limitation of neck and trunk flexion, scoliosis, and mild joint deformity. We report the case of a 30-year-old man with RSS who presented with severe restrictive ventilatory defect (forced vital capacity, 1.53 L, 39% of predicted), mild scoliosis (Cobb's angle 12), proximal muscle weakness and stiff back. Creatine phosphokinase was 986 IU/L. Muscle biopsy of the right vastus lateralis revealed increased variation in muscle fiber diameter, proliferation of endomysium, and type I fiber atrophy. Round and whorled fibers indicating myopathic change were found on sections stained with nicotinamide adenine dinucleotide dehydrogenase and succinate dehydrogenase. RSS was diagnosed based on myopathic findings and clinical presentation. Nocturnal chronic respiratory failure and fragmented sleep developed. He was treated with continuous positive airway pressure and had recovered his normal daily activity by 1-year follow-up. We suggest that patients with RSS should be assessed for possible ventilatory failure; treatment with nasal continuous positive airway pressure or bilevel continuous positive airway pressure therapy should be considered.
Post-polio syndrome (PPS) is the term used for the new late manifestations that occur in patients 30 to 40 years after the occurrence of acute poliomyelitis. PPS has been recognized for over 100 years, but is more common at the present time because of the large epidemics of poliomyelitis in the 1940s and 1950s. PPS is manifested by neurologic, musculoskeletal, and general manifestations. Neurologic manifestations include new weakness, muscle atrophy, dysphagia, dysphonia, and respiratory failure. Musculoskeletal manifestations include muscle pain, joint pain, spinal spondylosis and scoliosis, and secondary root and peripheral nerve compression. General manifestations include generalized fatigue and cold intolerance. New muscle weakness of a mild-to-moderate degree responds well to a nonfatiguing exercise program and pacing of activity with rest periods to avoid muscle overuse. Generalized fatigue may be treated with energy conservation and weight loss programs and lower extremity orthoses. Pharmacologic agents also may be helpful, but have not been beneficial in controlled trials. Bulbar muscle weakness includes dysphagia, dysphonia, sleep disorders, and chronic respiratory failure. Dysphagia may be improved with instruction on compensatory swallowing techniques. Dysphonia is treated with voice exercise therapy and voice amplification devices. Sleep disorders are treated similarly to sleep disorders in non-PPS patients. Respiratory failure may be treated with continuous positive airway pressure, bilevel positive airway pressure, and nasal ventilation, or tracheotomy and permanent ventilation if necessary. Musculoskeletal (muscle and joint) pain is treated with weight loss, pacing of activities, use of assistive devices, and prescribing anti-inflammatory medications and physical therapy techniques. Cardiopulmonary conditioning can be improved without muscle overuse with cycle or arm ergometer exercise or dynamic aquatic exercise.