Sequential studies of a childhood myopathy: a clinical, histochemical and morphometric investigation

An unusual inherited progressive distal myopathy of early childhood onset is described in two sisters from a consanguineous Asian family. Motor milestones were normal but gait deteriorated slowly thereafter with development of generalized hypotonia and muscle weakness particularly in the wrist extensors and hand muscles. Muscle biopsies obtained at the ages of 6 and 10 years respectively (Case 1) showed significant differences. At 6 years muscle morphology and histochemical appearance were normal although type I fibres predominated (79%) and a substantial pool of 'undifferentiated' fibres (12%) was present. By 10 years there was a significant reduction in type I fibres (-13%) and in 'undifferentiated' fibres (-10%) with a concomitant increase in type II fibres (+23%). Fibre size and shape were normal at the age of 6 years but no further fibre growth was evident 4 years later. The older sister (Case 2, age 13 years) was similarly affected. The possibility of this progressive myopathy being caused by loss of neural control at two separate stages of development is discussed. The importance of performing sequential morphometric studies of muscle biopsies from patients with unusual childhood myopathies is emphasized.