title: Monozygous twins with neuromuscular transmission defects at opposite sides of the motor endplate.
abstract: Disorders affecting the postsynaptic side of the neuromuscular junction include autoimmune myasthenia gravis (MG) as well as some of the congenital myasthenic syndromes (CMS). Lambert-Eaton myasthenic syndrome (LEMS) is an acquired autoimmune neuromuscular disorder in which autoantibodies are directed against the presynaptic calcium channels. Here we describe two monozygous twin brothers: case 1 was diagnosed with an indeterminate form of acquired postsynaptic neuromuscular junction defect at age 32 and case 2 with LEMS at age 47. Case 1 presented clinically with mild generalized myasthenic weakness, neurophysiological examination revealed disturbed neuromuscular transmission along with probable myositis and serum analysis regarding antibodies against the acetylcholine receptor and muscle-specific tyrosine kinase was negative. Case 2 presented with proximal muscle fatigue accompanied by areflexia at rest and antibodies against the P/Q-type voltage-gated calcium channels were present. Neurophysiologically, case 2 had reduced baseline compound motor action potential amplitudes on neurography, decrement on low-frequency repetitive nerve stimulation (RNS) and pathological increment on high frequency RNS. To our knowledge this is the first case report of its kind and adds an intriguing contrast to the more common diagnosis of CMS in monozygous twins.
authors.affiliation: Department of Clinical Neurophysiology, Uppsala University Hospital, Uppsala, Sweden. annarostedtpunga@gmail.com
authors.forename: A R
authors.initials: AR
authors.lastname: Punga
authors.forename: I
authors.initials: I
authors.lastname: Nygren
authors.forename: H
authors.initials: H
authors.lastname: Askmark
authors.forename: E V
authors.initials: EV
authors.lastname: Stålberg
mesh_terms: D000328:Adult; D001323:Autoantibodies / Q000097:blood / Q000276:immunology; D001324:Autoantigens / Q000276:immunology; D020865:Calcium Channels, P-Type / Q000276:immunology; D004200:Diseases in Twins; D004576:Electromyography; D006801:Humans; D007166:Immunosuppressive Agents / Q000627:therapeutic use; D015624:Lambert-Eaton Myasthenic Syndrome / Q000175:diagnosis / Q000235:genetics / Q000276:immunology / Q000503:physiopathology*; D008297:Male; D009045:Motor Endplate / Q000503:physiopathology*; D009220:Myositis / Q000150:complications; D020511:Neuromuscular Junction Diseases / Q000175:diagnosis / Q000235:genetics / Q000276:immunology / Q000503:physiopathology*; D012021:Reflex, Abnormal; D009435:Synaptic Transmission; D014430:Twins, Monozygotic
chemical_list: D001323:Autoantibodies; D001324:Autoantigens; D020865:Calcium Channels, P-Type; D007166:Immunosuppressive Agents