title: Concurrent chronic motor axonal polyneuropathy and synaptic impairment of neuromuscular junction.
abstract: Polyneuropathies may exhibits clinical, electrophysiologic signs of neuromuscular junction impairment. Distal motor nerve terminals and neuromuscular junction contain pre or postsynaptically specific targets for circulating autoantibodies, if present in neuropathies. Motor nerve terminal blockade either reversible or permanent is a putative factor of muscle weakness. A 59-year-old patient exhibited oropharyngeal, facial, extremity weakness, fluctuating fatigability, and areflexia. Elecectrophysiologic studies showed purely motor axonal polyneuropathy. Thenar, facial slow rate repetitive stimulation revealed up to 47% decrement of compound muscle action potential size. Single fiber electromyography on voluntary activation confirmed increased jitter and impulse blocking in all muscles examined in one third of the fibers. Repeated testings for antibodies to gangliosides, acetylcholine, muscle tyrosine kinase receptors, voltage-gated calcium channels were negative. Oral pyridostigmine bromide improved bulbar symptoms. Pulse intravenous immunoglobulin, oral steroids, and azathioprine had steady benefit. Impairment of neuromuscular transmission if occurring in chronic axonal neuropathies highlights mechanisms and significance of neuromuscular chronic "synaptopathies."
authors.affiliation: Department of Neurology, University of Modena & Reggio Emilia, Modena, Italy. giulianagalassi@aliceposta.it
authors.forename: Giuliana
authors.initials: G
authors.lastname: Galassi
authors.forename: Elena
authors.initials: E
authors.lastname: Canali
authors.forename: Alessandra
authors.initials: A
authors.lastname: Ariatti
authors.forename: Franco
authors.initials: F
authors.lastname: Valzania
mesh_terms: D001369:Axons / Q000473:pathology* / Q000502:physiology; D002908:Chronic Disease; D005260:Female; D006801:Humans; D008875:Middle Aged; D009046:Motor Neurons / Q000473:pathology* / Q000502:physiology; D009469:Neuromuscular Junction / Q000503:physiopathology*; D020511:Neuromuscular Junction Diseases / Q000175:diagnosis* / Q000209:etiology; D011115:Polyneuropathies / Q000150:complications / Q000175:diagnosis*; D017729:Presynaptic Terminals / Q000473:pathology; D009435:Synaptic Transmission; D016896:Treatment Outcome