Muscle phosphoglycerate mutase deficiency: a study of a family with metabolic myopathy.

Muscle phosphoglycerate mutase deficiency results in a myopathic condition characterised by repeated cramps, possible myoglobinuria and muscle pain. We present a family with muscle phosphoglycerate mutase (PGaM) deficiency, mild glycogen storage and some exertional myalgia. Investigations of muscle biopsy tissue showed a residual PGaM activity in muscle due to a small amount of brain isoenzyme.

Prognosis in adult polymyositis.

The effects of long-term corticosteroid treatment have been assessed in 20 patients with polymyositis. Cases were only accepted if a muscle biopsy showed the characteristic features of inflammation and muscle fibre degeneration. If the muscle disorder was only a minor feature of generalised collagen disease or there was evidence of coexisting neuropathy, the patients were excluded.

The value of brain scanning.

Over a 3-year period, 667 brain scans were performed, of which the results in 632 have been analysed. Positive scans were found in 68% of 204 cerebral tumours. There was a high rate of detection of meningiomas and malignant gliomas.