The patient described in this report was a 23-year-old woman who had two attacks of proximal muscle weakness which remitted spontaneously. The first lasted a few weeks, and the second began a year later and lasted about 2.5 years. Weakness was not affected by corticosteroid, oestrogen-progestogen or dietary therapy. There was a selective and unusual pattern of weakness without atrophy of the proximal limb girdle and neck muscles. Her parents were first cousins. Biochemical studies of muscle biopsies taken at the beginning and at the height of her second attack showed the amount of triglyceride to be more than three times the normal level. Histochemical stains showed this to be located within the muscle fibres. There were also morphological abnormalities and excessive numbers of skeletal muscle mitochondria, particularly in the second deltoid muscle biopsy. The fatty acid composition of the triglyceride was not abnormal. The tricaproin lipase activity of muscle was normal. The nature of the biochemical defect in this case is discussed.
ASJC Scopus subject areas
- Clinical Neurology