Myoclonus uye Startle

Zvikonzero zvakawanikwa

Mune cortical uye subcortical myoclonus, chikonzero chakawanikwa chakajairika uye chinoratidzwa neacute kana subacute kutanga uye / kana kukurumidza kufambira mberi kwechirwere. Mishonga kana mishonga ine muchetura inokonzeresa myoclonus inofanira kutariswa pekutanga, kunyanya kana mafambiro ejerky akatanga zvakanyanya kana zvishoma pakatanga kurapwa, nekuti kuregera kana detoxification kuchavandudza zviratidzo. Mushure mezvo, bvunzo dzemurabhoritari dzinogona kuona etiologies senge homeostatic imbalance, kutadza kwenhengo uye kutapukira. Zvirwere zvekudzivirira kudzivirira kwemuviri (senge anti-NMDAR encephalitis, stiff person syndrome (SPS), opsoclonus-myoclonus syndromes (OMS)) zvingangoita kuti zviratidzo zvehutachiona zvivepo. Zvimwe zvezvirwere izvi zvinorapika uye, nekudaro, kuzivikanwa kwekutanga kwakakosha. Uropi MRI inhanho inotevera inobatsira pakuziva chirwere chinokonzera, zvose zvakawanikwa uye zvikonzero zvinokonzera.

Mumuzongoza uye peripheral myoclonus, zviratidzo zvetsandanyama denervation kana maronda emuumbirwo anofanira kuongororwa nerubatsiro rwe electrophysiological test kana imaging. Propriospinal myoclonus, yakanyatsofanana nepelinha myoclonus uye inoratidzwa nejerks yakawanda yehunde uye mhasuru dzemudumbu ine nguva yakasiyana kubva ku100 - 1000ms, inowanzoita kusagadzikana kwekufamba.

Genetic zvinokonzera

Chete cortical uye subcortical myoclonus inosanganiswa neiyo genetic kusagadzikana uye kazhinji inotevera chizvarwa kutevedzana (NGS) inoratidzwa mushure mekutonga kunze kwechikonzero chakawanikwa. Zvisinei, ramba uchifunga nezvemitochondrial disorders (eg MERRF) uye neurodegenerative disorders (eg Alzheimer's disease) yezvirema zvemitochondrial hazvizivikanwi neNGS uye muchikamu chiduku chete chezvirwere zveurourodegenerative zvinozivikanwa.

Kuenzaniswa nechikonzero chakawanikwa, chirwere chemyoclonus syndrome chinofungidzirwa mumatambudziko ane kutanga kwekutanga uye kuderera kwechirwere. Muzviitiko zvakawanda, imwe yemakiriniki maviri syndromes inoonekwa: cortical myoclonus pamwe chete neataxia (eg progressive myoclonus epilepsy / progressive myoclonus ataxia) kana subcortical myoclonus pamwe chete nedystonia. Zvinenge zvese genetic kusagadzikana kunowanikwa nekuwedzera kwekufamba kusagadzikana. Kunze zvinosanganisira mhuri cortical myoclonus ine pfari (BAFME kana FCMTE), mamwe epileptic encephalopathies uye hyperekplexia. Nehurombo, ruzhinji rwekuremara kwemajini kunokonzera genetically yakatemwa myoclonus syndromes inoramba isingazivikanwi.

Kuziva iyo anatomical substrate haisi kungobatsira chete muchirongwa chekuongorora, asiwo kune mhedzisiro yehurongwa hwekurapa. Levetiracetam, valproic acid uye clonazepam inowanzoonekwa seyokutanga sarudzo dzekurapa mu cortical myoclonus, asi clonazepam chete ndiyo yekutanga sarudzo mu subcortical, spinal uye peripheral myoclonus.
 

Startle syndromes

Startle imhinduro isingatarisirwi kune kamwe kamwe uye isingatarisirwe kukurudzira. Muzviitiko zvakawanda, kukurudzira ndeye acoustic, asi dzimwe nzira dzakadai setactile, kuona, kana vestibular zvinokurudzirawo. Exaggerated startle chinhu cheakasiyana siyana neurologic uye zvepfungwa. Aya ma startle syndromes iboka rakasiyana uye rakasiyana-siyana remasyndromes rinopinda mapoka matatu: hyperekplexia, stimulus-induced disorders uye neuropsychiatric disorders.

Hyperekplexia ishoma genetic Clinical syndrome iyo inoratidzirwa nekukasira uye kwakajairwa kuvhunduka mukupindura (kazhinji kazhinji acoustic kana tactile) kukurudzira. Utatu hwezvokurapa hunosanganisira 1) kuomarara kwakajairwa pakuzvarwa (kuderera zvishoma nezvishoma mugore rekutanga rehupenyu), 2) kuwedzeredza kwekutya uye 3) kuomarara kwenguva pfupi kunotevera kuvhunduka kunokonzera kudonha zvine chisimba. Mhinduro yekuvhundutsa inobva muuropi uye inorapwa ne clonazepam. Pakuongororwa, pamazera ese, pane yakawedzera musoro-retraction reflex. Iro geni rinonyanya kukanganisa kunetseka neGLRA1, inokonzera 80% yevose hyperekplexia pedigrees.

Stimulus induced disorder inoratidza mhinduro dzakawandisa nekuda kwekukatyamadza kukurudzira. Matambudziko aya ndeekuti asiri epileptic (eg paroxysmal kinesigenic dyskinesias, episodic ataxia, cataplexy) kana pfari (eg reflex pfari) uye anowanzotanga achiri mudiki. Boka rechitatu, neuropsychiatric startle syndromes inowanzokura mushure mehupenyu uye inosanganisira tic-induced tic, functional startle syndromes uye kusagadzikana kusagadzikana (eg posttraumatic stress syndrome), uye tsika-chaiyo syndromes seLatah uye Jumping Frenchmen yekuMaine.

Yakanyorwa naMarcelo Merello, MD
Mutungamiriri, Dhipatimendi reNeuroscience
Musoro Movement Disorders Chikamu
Institute for Neurological Research Raul Carrea (FLENI)
Buenos Aires, Argentina

2019 zvigadziriso zvakapihwa ne:
Sterre van der Veen, MD, PhD Mumiriri,
Movement Disorders Groningen, pasi peMarina de Koning-Tijssen, MD, PhD
Musoro weMovement Disorders, Dhipatimendi reNeurology, Movement kusagadzikana
Groningen, Netherlands