A standard program of computed tomographic (CT) scanning of the human skeletal muscular system was developed. Scans were obtained on five levels: the neck, the shoulder girdle, the pelvic girdle, the thigh, and the lower leg. The normal size and density of several muscles were determined. CT scans were also obtained in patients with various neuromuscular diseases. Several types of lesions were found, and their morphologic descriptions and quantitative data are presented. It is concluded that CT opens new possibilities for the evaluation of muscular atrophy and hypertrophy.
We present the history and data on a 24-year-old man with clinical and neurological symptoms similar to the findings in patients with late-onset Cockayne syndrome. Prometaphase chromosome studies documented an interstitial 10q211 deletion in all cells. This finding may indicate that the gene for late Cockayne syndrome is at 10q211.
Centrometric fission of chromosome 10 is reported in a 25-year-old psychiatric patient and his 5 1/2-year-old normal daughter. The relevant literature on this subject is briefly reviewed.
Computed tomography (CT) scans of skeletal muscles of 3 patients with pseudohypertrophic muscular dystrophy are presented. Different patterns of muscle alterations and particularly of pseudohypertrophy are described. The significance of the radiological findings for clinical examination, electromyography, and needle biopsy is discussed.
A family is described with generalized muscle cramps inherited as an autosomal dominant trait and with maximal expression during adolescence. The age of onset varies between 10 and 15 years. Muscle enzymes are elevated with a peak level between 15 and 25 years. The complaints seem to disappear after the age of 25 years. EMG and muscle biopsies suggest a neurogenic origin of the cramps.
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