Incidence, severity, and time-course of motoneurone dysfunction in myotonic dystrophy: their significance for an understanding of anticipation.
The numbers of functioning motor units and the amplitudes of the maximum evoked muscle responses have been measured in 198 muscles of 102 patients with myotonic dystrophy. Losses of units could be demonstrated in most of the extensor digitorum brevis and thenar muscles but less commonly in the hypothenar groups. A more proximal limb muscle, the soleus, was also shown to be involved frequently. Investigation of two premature infants withmyotonic dystrophy also revealed reductions of functiong units; in one infant clinical improvement was associated with increased muscle innervation. Repeated examinations of 10 adult patients disclosed an abnormal decline in neuromuscular function below the age of 60 years. The reduction in functioning units amounted to approximately 3% of the mean control value per annum. Analysis of 19 families showed that the severity of neuromuscular involvement was nearly always greater in members of later generations. If the predicted deterioration was also taken into account, the results strongly suggested that anticipation was a true genetic phenomenon rather than an artefact of selection. The combined results are considered to strengthen the concept of motoneurone dysfunction as the major pathogenetic factor in this form of dystrophy.
D000293:Adolescent; D000328:Adult; D000368:Aged; D000375:Aging; D000842:Ankle / Q000294:innervation; D001369:Axons / Q000502:physiology; D002452:Cell Count; D002648:Child; D002675:Child, Preschool; D005071:Evoked Potentials; D005260:Female; D006214:Hallux / Q000294:innervation; D006225:Hand / Q000294:innervation; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007235:Infant, Premature, Diseases / Q000503:physiopathology; D008297:Male; D008875:Middle Aged; D009046:Motor Neurons / Q000502:physiology*; D009132:Muscles / Q000294:innervation; D009223:Myotonic Dystrophy / Q000235:genetics / Q000503:physiopathology*; D009412:Nerve Fibers / Q000254:growth & development