Increased mechanical muscle irritability syndrome.
The patient reported here presented electrically silent rolling movements of the muscle under hand compressions, myoedema and myotonia-like muscle responses to mechanical stimulation. These muscle contractions suggest a disturbance of the function of the myofibrillar apparatus. Th neuromuscular syndrome of our case is similar to the muscular disorder described by Torbergsen (1975), but in addition histochemical and electron microscopic studies of the muscle showed morphological abnormalities not related to any specific muscle disease. Furthermore, a cerebellar syndrome attributed to a cerebellar atrophy was the patient's main complaint. Both the neuromuscular syndrome and the cerebellar disorder were semeiologically independent of each other.
D001284:Atrophy; D002526:Cerebellar Diseases / Q000175:diagnosis* / Q000473:pathology; D003286:Contracture / Q000175:diagnosis*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009132:Muscles / Q000648:ultrastructure; D009468:Neuromuscular Diseases / Q000175:diagnosis* / Q000473:pathology; D013577:Syndrome