Stiff Person Spectrum Disorder
Clinical Overview
Stiff Person Syndrome (SPS) chirwere chisingawanzwisisiki che autoimmune chekufamba chinokanganisa pakati penheyo system uye inoratidzirwa nekiriniki nekuomarara kwetsandanyama, spasms uye kuwedzera kuvhunduka kwemhinduro (kusaziva kudzivirira mhinduro) kune zvisingatarisirwi zvinokurudzira.
SPS ndeyeboka reStiff person syndrome spectrum disorders (SPSD) iyo inogovana zvakafanana zvekiriniki maficha uye spectrum yemasoja ekudzivirira chirwere anorwisa neuronal mapuroteni, anotora chikamu muyakajairwa inhibition yepakati hyperexcitability inotsanangura maitiro ayo ekiriniki. Iyo chaiyo pathophysiological mechanism haisati yazivikanwa.
Kuomarara kwetsandanyama kunowanzotanga kusinganzwisisike muzasi kumusana nemakumbo uye kunogona kutevedzera kurwadza kwemusana, asi nekufamba kwenguva kunowedzera kufambira mberi kuenda kune dzimwe nhengo dzemuviri, kunyanya kusvika kunhengo dzemakumbo uye tsandanyama dzemudumbu. Somugumisiro, varwere vanouya ne "kuoma" kana "robotic" gait nekuwedzera lumbar hyperlordosis. Kuoma kunowanzogadzirisa mukurara kana pasi peanesthesia.
Ona tsananguro yakazara
Tsandanyama spasms muSPS inorwadza uye inopindirana. Zvinowanzoitika semugumisiro wezvisingatarisirwi zvekunze zvinokurudzira, kunyanya kune tactile, acoustic kana manzwiro ekusimudzira uye zvinowanzogara kwemasekonzi mashoma kana maminetsi. Kunyanya spasms kunogona kutungamirira kune zvakangoerekana zvaputsika uye majoint subluxations kana kudonha kusingadzoreki kwemunhu ane "log-like" anowira pasi.
Varwere vane SPS vanowanzo ratidza zvisiri zvemotor zvakaita sekushushikana, kushushikana uye basa chairo phobias. Inonyanya kuzivikanwa ndeye agoraphobia, nekutya kuwira pasi kana uchifamba usina rubatsiro. Zvakare, panogona kuve nezviratidzo zvenguva pfupi zvekusashanda zvakanaka zvinotungamira mukunzwira tsitsi hyperactivity ne diaphoresis, hyperpyrexia kana kusagadzikana kwepabonde.
Kunze kwechinyakare SPS kune nzira dzakanangana dzechirwere kana zviratidzo zvakarasika panhengo imwe chete yemuviri, semuenzaniso Stiff limb syndrome, kana mafomu ane hukama nekuwedzera tsinga (semuenzaniso pfari, ataxia, polyneuropathy) uye zvakare fulminant uye dzimwe nguva mafomu anouraya akadai seProgressive encephalomyelitis ine rigidity uye myoclonus (PERM).
Kuongororwa kweSPS kunobva pane yayo yekiriniki mharidzo. Zvakawanikwa zveakakwira akajairwa masoja ekudzivirira chirwere titres achipokana neGAD, glycine, DPPX, GABARAP, gephyrin uye ampiphysine mucerebrospinal fluid uye ropa zvinogona kubatsira asi zvisina kukosha pakuongororwa. Zvidzidzo zveEMG zvinoratidza zvisingatarisirwi zvinoenderera mberi mota unit basa rinogona kuita (CMAP) mumasumbu akabatwa. Electrophysiological zvidzidzo zveexteroceptive reflexes ine abnormal masseter inhibitory reflex nekurasikirwa kweS2 chikamu, uye kupfupika latency yeR2 kupora muBlink reflex inonyanya kujeka.
Brain and spine MRI yakajairika uye inoshandiswa chete kusasanganisa zvimwe zvinogoneka kuongororwa.
SPS inowanzobatanidzwa nezvimwe zvirwere zve autoimmune, kusanganisira vitiligo, chirwere cheshuga mellitus uye thyroiditis. Mamwe mafomu (anonyanya kubatanidzwa neanopesana neampiphysin antibodies) anogona kubatanidzwa neoplasms.
Kurapa kweSPSD kwakavakirwa pahutatu hwekurapa kwechiratidzo, immunotherapy, uye kubvisa bundu / oncological kurapwa pazvinenge zvakakodzera.
Symptomatic treatment inobva pamishonga ine GABA-ergic action. Zvakangodaro, nekuda kwechimiro chayo che autoimmune, kurapa kwepakati ndeye immunotherapy uchishandisa corticosteroids, intravenous immunoglobulins (IVIG) uye / kana plasma kuchinjana seyekutanga mutsara kurapa, yakakwira kune yechipiri mutsara immunotherapy uchishandisa eg cyklosporin, cyklofosfamid kana mycofenolat unresponsivelmosive kesi. Kurapa kweiyo yakadzika oncological process kwakakosha muzviitiko zvine paraneoplastic kusangana.
Kufanotaura kwechirwere kunosiyana.
Yakanyorwa naKailash Bhatia, MD
Institute of Neurology
Sobell Department
London, UK
2019 Updates Inopihwa na:
Petra Dosekova, MD
Movement Disorders Unit uye Center for Rare Movement Disorders,
Dhipatimendi reNeurology
PJ Safarik University
Kosice, Slovakia
Zvemukati Zvazvino
Misoro inopisa uye kukakavara paStiff Person Spectrum Disorders (SPSD)
- Webhu chinyorwa
- Functional Movement Disorders
- Stiff Person Syndrome (SPS)
Zvidzidzo Zvinoenderana
Zvishandiso Zveruzivo
Nguva yeSPS Nhoroondo
Ona mareferensi
References
Balint, B., Jarius, S., Nagel, S., Haberkorn, U., Probst, C., Blöcker, IM, Bahtz, R., Komorowski, L., Stöcker, W., Kastrup, A., Kuthe, M., & Meinck, HM (2014). Progressive encephalomyelitis ine kuomarara uye myoclonus: imwe mhando itsva ine ma antibodies eDPPX. Neurology, 82(17), 1521–1528. https://doi.org/10.1212/WNL.0000000000000372
Blum, P., & Jankovic, J. (1991). Stiff-person syndrome: chirwere che autoimmune. Matambudziko ekufamba: journal yepamutemo yeMovement Disorder Society, 6(1), 12–20. https://doi.org/10.1002/mds.870060104
Boiardi, A., Crenna, P., Bussone, G., Negri, S., & Merati, B. (1980). Kuongororwa kwetsinga nemakemikari echirwere che stiff-man syndrome. Journal of neurology, 223(2), 127–133. https://doi.org/10.1007/BF00313175
Butler MH, Hayashi A, Ohkoshi N, nevamwe. Kuzvidzivirira kwemuviri kugephyrin muStiff-Man syndrome. Neuron. 2000;26(2):307-312. https://doi:10.1016/s0896-6273(00)81165-4
Blum, P., & Jankovic, J. (1991). Stiff-person syndrome: chirwere che autoimmune. Matambudziko ekufamba: journal yepamutemo yeMovement Disorder Society, 6(1), 12–20. https://doi.org/10.1002/mds.870060104
De Camilli P, Thomas A, Cofiell R, nevamwe. Synaptic vesicle-associated protein amphiphysin ndiyo 128-kD autoantigen yeStiff-Man syndrome ine kenza yemazamu. J Exp Med. 1993;178(6):2219-2223. https://doi:10.1084/jem.178.6.2219
Folli F, Solimena M, Cofiell R, nevamwe. MaAutoantibodies kuprotein yesynaptic ye128-kd muvakadzi vatatu vane stiff-man syndrome uye kenza yemazamu. N Engl J Med. 1993;328(8):546-551. https://doi:10.1056/NEJM199302253280805
Hutchinson M, Waters P, McHugh J, nevamwe. Progressive encephalomyelitis, rigidity, uye myoclonus: antibody itsva yeglycine receptor. Neurology. 2008;71(16):1291-1292. https://doi:10.1212/01.wnl.0000327606.50322.f0
Martinelli, P., Pazzaglia, P., Montagna, P., Coccagna, G., Rizzuto, N., Simonati, S., & Lugaresi, E. (1978). Stiff-man syndrome inobatanidzwa ne nocturnal myoclonus uye epilepsy. Journal of neurology, neurosurgery, and psychiatry, 41(5), 458–462. https://doi.org/10.1136/jnnp.41.5.458
Meinck, HM, Ricker, K., & Conrad, B. (1984). Chirwere che stiff-man: zvinhu zvitsva zve pathophysiological zvinobva ku abnormal exteroceptive reflexes uye mhinduro ku clomipramine, clonidine, uye tizanidine. Journal of neurology, neurosurgery, and psychiatry, 47(3), 280–287. https://doi.org/10.1136/jnnp.47.3.280
Moersch FP, Woltman HW. Progressive fluctuating muscular rigidity uye spasm ("stiff-man" syndrome); mushumo wenyaya uye zvimwe zvakaonekwa mune 13 dzimwe nyaya. Proc Staff Vanosangana naMayo Clin. 1956;31(15):421-427.
Mamoli, B., Heiss, WD, Maida, E., & Podreka, I. (1977). Zvidzidzo zveElectrophysiological pamusoro pe "stiff-man" syndrome. Journal of neurology, 217(2), 111–121. https://doi.org/10.1007/BF00312924
Petit-Pedrol M, Armangue T, Peng X, et al. Encephalitis ine refractory seizures, mamiriro epilepticus, uye masoja ekudzivirira chirwere kuGABAA receptor: mutsara wenyaya, maitiro eantigen, uye kuongororwa kwemigumisiro yemasoja. Lancet Neurol. 2014;13(3):276-286. doi:10.1016/S1474-4422(13)70299-0
Raju R, Rakocevic G, Chen Z, nevamwe. Kuzvidzivirira kwemuviri kuGABAA-receptor-associated protein mu stiff-person syndrome. Brain. 2006;129(Pt 12):3270-3276. https://doi:10.1093/brain/awl245
Solimena M, Folli F, Denis-Donini S, nevamwe. MaAutoantibodies ku glutamic acid decarboxylase mumurwere ane stiff-man syndrome, epilepsy, uye type I diabetes mellitus. N Engl J Med. 1988;318(16):1012-1020. https://doi:10.1056/NEJM198804213181602
SPS Social Media Graphics
Pamusoro peSPS
