Ultrastructural relationship of quadriceps muscle degeneration with a distant peroneal nerve conduction in human myotonia dystrophica

Abstract

The association of motor nerve conduction velocity (MNCV) to (1) duration of symptoms, (2) deep tendon reflex responses, (3) clinical muscle atrophy, and (4) ultrastructure of quadriceps muscle was studied in 18 patients with myotonia dystrophica of Steinert and nine normal controls. These patients had neither diabetes mellitus nor any other type of muscle dystrophy. Ultrastructural features of muscle fibers and intercellular spaces between atrophic fibers provided a basis for identifying degenerative changes and evaluating them semi-quantitatively. Our study indicates presence of an association between the pattern of muscle degeneration and both MNCV (correlation coefficients, y=+0.60) and duration of symptoms (y=-0.62), but not between MNCV and duration of symptoms (y=+0.28). Further analysis of the association between the degeneration of quadriceps and the MNCV of a distant peroneal nerve (which does not innenate quadriceps) suggested that the systemic nerve degeneration occurred in some groups of myotonia patients. Our study indicates that while in some patients the muscle degeneration may have been associated with the impairment of neurogenic elements, in others it occured in the absence of any MNCV abnormality. Our findings favor the role of both neuropathic and myopathic factors in the muscle degeneration seen in myotonia dystrophica.