CYTOPLASMIC BODY NEURO-MYOPATHY PRESENTING AS RESPIRATORY-FAILURE AND WEIGHT-LOSS

This report describes the clinical, laboratory, biopsy and autopsy studies of a woman with a sporadic and chronic progressive neuromyopathy, presenting as respiratory failure and loss of weight. A weakness of her neck muscles could already be observed during childhood. When she was 22 years old, abnormal fatigue, headache and then papilloedema developed. 4 years later there was a steady loss of weight, and in the following years severe shortness of breath occurred during exercise and later at rest, leading to intermittent somnolence. The respiratory function studies revealed a decrease of the vital capacity, total lung capacity, forced expiratory volume and an increase of residual volume. At the age of 31 the patient died from complications of the respiratory failure. In addition to the myopathy the two muscle biopsies showed numerous cytoplasmic bodies in 25% of the muscle fibres; only type 1 fibres contained the inclusions. Axonal alterations were detected in the sural nerve biopsy, and the EMG revealed neurogenic changes in several muscles tested. The autopsy revealed normal anterior horn cells, roots and peripheral nerves, but several muscles including intercostal muscles, showed a neurogenic atrophy. As in a similar sporadic and fatal case and in cases of autosomal dominant benign myopathies with cytoplasmic body inclusions (reported earlier), the cause of the disease presented here remains obscure. © 1979.