In talipes equino-varus the diminished bulk of the calf muscle suggests a neuromuscular defect. Accordingly, biopsies were taken from the postero-medial and peroneal muscle groups, and occasionally from abductor hallucis, in sixty patients mostly under the age of five years; 111 were studied histochemically and histologically, and a further fifty-three by electron-microscopy. Histochemical anomalies were revealed in ninety-two specimens; the muscle fibres in the other nineteen varied in size but were abnormal at the ultramicroscopic level, as were all specimens examined with the electron microscope. Evidence of neurogenic disease was seen in most instances and was more obvious in the older patients. The pattern of abnormality was similar in both muscle groups. It is thought that shortening of the postero-medial muscles may result from a small increase of fibrosis due to minor innervation changes occurring in intra-uterine life. There is evidence that immobilisation, stretching or relaxation of muscles does not account for the anomalies observed. This study of the extrinsic muscles in talipes equino-varus indicates a dominant neurogenic factor in its causation.
SYNOPSIS Two patients suffering from central core disease are presented. The condition is associated with musculoskeletal abnormalities which have been traced back over five generations. In addition to the typical histochemical findings, electronmicroscopic study has revealed the presence of both structured and non-structured cores in adjacent areas. The calcium uptake by the sarcoplasmic reticulum was reduced to one-third of normal. Phosphorylase activity was normal in the one case and reduced to 63% in the other. Actomyosin Mg2 +-activated ATPase activity was decreased, as was the Ca2+-dependent ATPase of the sarcoplasmic reticulum.
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