I-Myoclonus kunye ne-Startle

Izizathu ezifunyenweyo

Kwi-cortical kunye ne-subcortical myoclonus, isizathu esifunyenweyo siqhelekile kwaye sibonakaliswe ngokuqala kwe-acute okanye i-subacute kunye / okanye ukuqhubela phambili kwesifo. Amayeza okanye ii-agent ezinobuthi ezibangelwa i-myoclonus kufuneka ziqwalaselwe kuqala, ngakumbi ukuba ukunyakaza kwe-jerky kwaqala ngaphezulu okanye ngaphantsi ngokukhawuleza ekuqaleni kwonyango, kuba ukuyeka okanye ukuchithwa kwe-detoxification kuya kuphucula iimpawu. Emva koko, iimvavanyo zaselabhoratri zesiqhelo zinokufumanisa i-etiologies efana nokungalingani kwe-homeostatic, ukusilela kwamalungu kunye nosulelo. Iziphazamiso ezithintela amajoni omzimba (umzekelo, i-anti-NMDAR encephalitis, stiff person syndrome (SPS), i-opsoclonus-myoclonus syndromes (OMS)) kunokubakho ngakumbi iimpawu zosulelo olukhoyo. Ezinye zezi ngxaki ziyanyangeka kwaye, ke ngoko, ukuqondwa kwangaphambili kubalulekile. I-MRI yobuchopho iyinyathelo elilandelayo eliluncedo ekuchongeni isifo esisisiseko, zombini ezifunyenweyo kunye nezizathu zofuzo.

Kwi-myoclonus yomgogodla kunye ne-peripheral, iimpawu zokunciphisa imisipha okanye izilonda zesakhiwo kufuneka zihlolwe ngoncedo lovavanyo lwe-electrophysiological okanye imaging. I-propriospinal myoclonus, ifana ngokusondeleyo ne-myoclonus yomgogodla kwaye ibonakaliswe yi-jerks jikelele ye-trunk kunye nezihlunu zesisu kunye nobude obuguquguqukayo ukusuka kwi-100 - 1000ms, ngokuqhelekileyo ukuphazamiseka kwentshukumo yokusebenza.

Oonobangela bemfuza

Kuphela i-cortical kunye ne-subcortical myoclonus idibene nokuphazamiseka kwemfuza kwaye kwiimeko ezininzi ukulandelelana kwesizukulwana esilandelayo (NGS) kuboniswa emva kokulawula isizathu esifunyenweyo. Nangona kunjalo, khumbula ukuphazamiseka kwe-mitochondrial (umzekelo, i-MERRF) kunye ne-neurodeergenerative disorders (umz. Isifo se-Alzheimer) kwiziphene ze-mitochondrial azichongwa nge-NGS kwaye kwipesenti encinci ye-neurodeergenerative disorders eyaziwayo.

Xa kuthelekiswa nesizathu esifunyenweyo, i-myoclonus syndrome enqunywe ngokwemfuza irhanelwa kwiimeko zokuqala kunye nokuhamba kancinci kwesifo. Kwiimeko ezininzi, i-syndromes enye yezimbini zekliniki ibonakala: i-cortical myoclonus idibene ne-ataxia (umzekelo, i-progressive myoclonus epilepsy / i-progressive myoclonus ataxia) okanye i-subcortical myoclonus idibene ne-dystonia. Phantse zonke iziphazamiso zofuzo zikhoyo ngokuphazamiseka kwentshukumo eyongezelelweyo. Ngaphandle kokubandakanya i-familial cortical myoclonus ene-epilepsy (BAFME okanye i-FCMTE), enye i-encephalopathies ye-epileptic kunye ne-hyperekplexia. Ngelishwa, uninzi lweziphene zofuzo ezibangela ukuba i-myoclonus syndromes enqunywe ngokwemfuza ingaziwa.

Ukuchonga i-substrate ye-anatomical akuncedi kuphela kwinkqubo yokuxilonga, kodwa kunemiphumo yesicwangciso sonyango. I-Levetiracetam, i-valproic acid kunye ne-clonazepam ngokuqhelekileyo zibhekwa njengezona zikhetho zokuqala zonyango kwi-cortical myoclonus, kanti i-clonazepam kuphela iyona khetho yokuqala kwi-subcortical, spinal and peripheral myoclonus.
 

Iimpawu ze-Startle syndrome

I-Startle yimpendulo ebambekayo kuvuselelo olukhawulezileyo nolungalindelekanga. Kwiimeko ezininzi, uvuselelo luyi-acoustic, kodwa ezinye iindlela ezifana ne-tactile, i-visual, okanye i-vestibular nazo ziyi-stimuli esebenzayo. Ukothuka okubaxiweyo luphawu lweemeko ezahlukeneyo ze-neurologic kunye nengqondo. Ezi syndromes ze-startle liqela elihlukeneyo kunye ne-heterogeneous ye-syndromes ehlanganisa iindidi ezintathu: i-hyperekplexia, ukuphazamiseka okubangelwa yi-stimulus kunye ne-neuropsychiatric disorders.

I-Hypeekplexia yi-syndrome yemfuza enqabileyo yekliniki ebonakala ngokukhawuleza kunye nokuphaphazela okuqhelekileyo ekuphenduleni (idla ngokuba yi-acoustic okanye i-tactile) yokuvuselela. I-triad yezonyango ibandakanya 1) ukuqina okuqhelekileyo ekuzalweni (ukuncipha kancinci kunyaka wokuqala wobomi), 2) i-startle reflexes kunye 3) nokuqina okuqhelekileyo kwexesha elifutshane okulandela ukothuka okukhokelela ekuweni okunobundlobongela. Impendulo yokothuka isuka kwi-brainstem kwaye iphathwa nge-clonazepam. Kuviwo, kuyo yonke iminyaka, kukho i-reflex exaggerated head-retraction reflex. I-gene ixhaphake kakhulu inkxalabo ye-GLRA1, ejongene ne-80% yazo zonke i-hyperekplexia pedigrees.

Ukuphazamiseka okubangelwa yi-Stimulus kubonisa iimpendulo ezigqithisileyo ngenxa ye-stimulus eyothusayo. Ezi zigulo zinokuba zingezo-epileptic (umz. paroxysmal kinesigenic dyskinesias, episodic ataxia, cataplexy) okanye i-epileptic (umz. i-reflex epilepsy) kwaye idla ngokuqala kwasebuntwaneni. Iqela lesithathu, i-neuropsychiatric startle syndromes idla ngokukhula kamva ebomini kwaye iquka i-ticle-induced tics, i-syndromes esebenzayo ye-startle kunye nokuphazamiseka kwexhala (umzekelo, i-posttraumatic stress syndromes), kunye nee-syndromes zenkcubeko ezifana ne-Latah kunye ne-Jumping Frenchmen yaseMaine.

Ixhaswe nguMarcelo Merello, MD
UMlawuli, iSebe leNeuroscience
ICandelo leeNgxaki zokuPhumelela kweNtloko
Iziko loPhando lweNeurological Raul Carrea (FLENI)
EBuenos Aires, eArgentina

Uhlaziyo luka-2019 luxhaswe ngu:
USterre van der Veen, MD, umviwa wePhD,
I-Movement Disorders Groningen, phantsi kwe-Marina de Koning-Tijssen, MD, PhD
INtloko yeZiphazamiso zeMovement, iSebe leNeurology, ukuphazamiseka kweMovement
IGroningen, eNetherlands