Yintoni? Ukuma kokuziphatha okuphindaphindiweyo kunye nokulahlekelwa yi-postural reflexes

Ingqwalasela apha ayikokufikelela kwimpendulo ngokukhawuleza. Imalunga nokwenza ingqiqo yobungcali ibonakale. Indlela iingcamango eziveliswa ngayo, ezihlaziywa ngayo, kwaye ngamanye amaxesha zilahlwe njengoko kuvela ulwazi olutsha. Ndingumsingathi wenu, uHugo Morales, kwaye kwesi siqendu, ndixoxa ngetyala noNjingalwazi oNcedisayo u-Asif Doja, ingcali yezifo zengqondo zabantwana kwiSibhedlele saBantwana saseMpuma Ontario, eKhanada.

Wamkelekile, Asif.

UDkt. Asif Doja: Enkosi ngokundifumana, Hugo

UGqr. Hugo Morales Briceno: Enkosi. Ngoku siza kuqala ngokufunda eli tyala kubaphulaphuli, size emva koko siqale ingxoxo yethu [00:01:00]. Ngoko ke eli lityala elinomdla lendoda eneminyaka engama-24 ubudala eveze imbali yeempawu ze-episodic ukususela ebuntwaneni. Ngokwenkcazo yabazali, imbali yokukhulelwa yayingaphawuleki.

Nangona kunjalo, ulwimi lwakhe lwalulibaziseka kancinci, kodwa uphuhliso lwakhe lomzimba lwalusondele kwisiqhelo. Iimpawu zokuqala zenzeka ngaphambi kokuba afikelele kunyaka omnye, xa wayehlala phantsi aze abe nokuma kokuziphatha imizuzwana emihlanu, okwenzeka amaxesha amaninzi emini. Kwakungekho nkcazelo yokuxhuzula okanye intshukumo ye-tonic-clonic eyayinokubonisa ukuxhuzula okuqhelekileyo.

Nangona kunjalo, ngokuhamba kwexesha, ezi ziqendu zaba zinde, zihlala phakathi kwemizuzwana engama-20 ukuya kwengama-40. Inani leziqendu labalwa ukuya kuthi ga kwi-100 ngosuku. Kwaye ngexesha leziqendu, kwakungekho kuluma kolwimi, akukho kuphambuka kwamehlo okanye ukungakwazi ukuzibamba. Wafunyaniswa ukuba une-absence seisure xa wayeneminyaka eli-11 ubudala kwaye wafumana unyango oluninzi [00:02:00] nge-antiepileptics, kuquka i-valproic acid, i-carbamazepine, i-ethosuximide, i-levetiracetam, ukutya kwe-ketogenic, kunye ne-topiramate.

Ngelishwa, akukho nanye kuzo eyaphumelela ekunciphiseni ukuhlaselwa kwakhe ngamaxesha athile. Ngokuphathelele ukuhlaselwa bekungekho zinto zibangela oku. Ukuqala kwaba ngequbuliso. Isigulane, ngokwenkcazo yabazali, kukho ukulahlekelwa bubuso kulandele ukuvula umlomo.

Uza kuwa kwicala elinye lomzimba wakhe, okanye awe ewa ngomva enesimo esincinci nesiqhelekileyo semilenze yakhe engaphezulu aze aphinde aphile ngokukhawuleza ixesha elingangemizuzwana engama-40. Okubalulekileyo kukuba, akukho nye imbali yezonyango enxulumene noko.

Ngoko ke ngalo lonke olu lwazi, yintoni eza engqondweni yakho? Sinike indlela yokujongana nezi meko.

UDkt. Asif Doja: Ndicinga ukuba kufuneka uthathe indlela ebanzi kakhulu ngokusekelwe koku kunye nenkcazo yeziqendu. Ngoko ke ucinga ukuba ezi ziqendu ziyi-paroxysmal [00:03:00] kwaye asikuko konke, nokuba ungoyena ngcali kwi-movement disorder, okuza kuba yi-movement disorder. Ebantwaneni, i-epilepsy ixhaphake kakhulu, kwaye kufuneka sicinge ngaloo nto.

Ngoko ke ndicinga ukuba kusengqiqweni ukucinga ukuba, ingaba oku kukuphazamiseka kwentshukumo okanye akunjalo? Kwaye ukuba akunjalo, ingaba yintoni enye? Kwaye ukuba kukuphazamiseka kwentshukumo, ingaba yintoni? Ngoko ke ukuba akunjalo, ndicinga ukuba isifo sokuwa siyinto ekufuneka iqwalaselwe, ingakumbi kwimbali yokuqala yeziqendu zokuma kokuziphatha ezenzeka amaxesha amaninzi ngemini.

Ucinga, "Ngaba oku kukungafumani zimpawu zokuxhuzula?" Kungaqhelekanga ukuqala uneminyaka engaphantsi konyaka ubudala, kodwa kusenokwenzeka. Kodwa kwakhona, njengoko ukhankanyile, njengoko ixesha lihamba, bazame unyango oluninzi olufanele ukuba luncedo ekuxhuzuleni, kodwa aluzange lusebenze. Ngoko ke mhlawumbi ayisiyiyo loo nto eyenzekayo. Ngoko ke ukuba ucinga ngezinye iingxaki zokunyakaza ezinokunxulunyaniswa. Ucinga ukuba kukho iziqendu zokuwa ngasemva, mhlawumbi ukulahlekelwa yithoni.

Ingaba le yinto engalunganga? Ngoko ke ucinga, "Ngaba le yi-myoclonus?" Kwaye njengoko sisazi, i-myoclonus inokuba nesifo sokuwa okanye esingesiso isifo sokuwa. Ngoko ke i-myoclonus yesifo sokuwa isesenokwenzeka [00:04:00]. Kodwa ukuba akunjalo, sicinga, "Kulungile ingaba le yi-myoclonus engalunganga mhlawumbi enxulunyaniswa nesifo sokuwa, mhlawumbi akunjalo?"

Kwakhona, oku kunokwenzeka. Into eyenzeka ixesha elide kangaka ngaphandle kwezinye iingxaki ezininzi ze-neurologic. Ucinga, kulungile, ayisiyo i-progressive myoclonic epilepsy. Oko bekungayi kuba lula. I-Myoclonus dystonia mhlawumbi inokwenzeka. Mhlawumbi kukho i-dystonia ethile kwinkcazo yezi ziqendu, kodwa ezi ziqendu zahlukile.

Kwaye i-myoclonus dystonia eqala ngaphantsi konyaka isenokungabi yinto enokwenzeka. Ngoko ke ucinga, "Kulungile, kuthekani ngezinye iingxaki zokunyakaza?" Ngoko ke ucinga ezinye iingxaki zokunyakaza ezibangelwa yi-paroxysmal kwaye oku kunokwenzeka. Enye imbangela ebalulekileyo ekufuneka ucinge ngayo kukungabikho kwe-GLUT1, enokuvela njenge-dystonia ebangelwa kukuzilolonga kunye ne-dyskinesia, kodwa akufuneki ukuba yenzeke.

Ingakumbi kuba oku kunokuqala kunyaka wokuqala wobomi kwaye kunokunxulunyaniswa nokuxhuzula. Enyanisweni, ukuxhuzula kokungabikho, ukuba esi sigulana sinesifo sokuxhuzula sokungabikho esiqala ngaphantsi konyaka wobomi, kubonisa kakhulu ukunqongophala kwe-GLUT1 [00:05:00]. Oku bekuyingqwalasela. Nangona kunjalo, ukhankanyile ukuba baphathwe ngokutya okune-ketogenic, okwenza oko kungabi lula kuba yileyo ndlela yonyango lwethu lwe-GLUT1.

Emva koko enye into esicinga ngayo kukuba yintoni ngezinye izinto ezibangela i-paroxysmal esizibona njengengxaki yokunyakaza? I-Paroxysmal dyskinesias ngoko ke nokuba yi-kinesigenic PRT2 okanye mhlawumbi i-non-kinesigenic. Zininzi izizathu ezahlukeneyo zokungabangelwa yi-kinesigenic, kodwa ucinga, ingakumbi kumntu ongumntwana oqala ngale nto, into efana ne-KCNMA1 inokwenzeka.

Kwaye ekugqibeleni, kukho ezinye izifo ezinokuvela ngolu hlobo, ezikwanokuphazamiseka kokuhamba. Kwaye esimele sicinge ngayo yi-cataplexy, ene-narcolepsy. Kuba kuye kwachazwa ukuba ukuphazamiseka kokuhamba, ingakumbi ekuqaleni kwesifo ebuntwaneni, unokubona ezinye iingxaki zokuhamba ezinzima kakhulu kwezi zigulana.

Ngaba yiloo nto eyenzekayo? Yiloo nto ndiyicingayo xa ndisiva ngale bali, eli bali linomdla kakhulu kwesi sigulana.

UGqr. Hugo Morales Briceno: Ngoku ndiza kukunika uhlolo xa uneminyaka engama-24, [00:06:00] size emva koko siqhubekele kwinkcazo yevidiyo yeziqendu ezazikho kwesi sigulana. Ngoko ke xa wayeneminyaka engama-24, wayene-dysarthria enzima, ukulibaziseka okuphakathi kokukhula, kungekho zimpawu zibonakalayo ze-dysmorphic, kwaye lonke uhlolo lwaluqhelekile kwaye kwakungekho zimpawu zomzimba.

Ngoku, ndikunike ividiyo enye kwaye kukho inxalenye enye eneminyaka emihlanu ubudala, esi sigulana besinezi ziqendu ngexesha lovavanyo lwevidiyo ye-EEG. Ngoku ngexesha levidiyo ucinga ukuba kwenzeka ntoni? Ungayichaza njani i-semiology okanye i-phenomenology yezi ziqendu?

UDkt. Asif Doja: Ngoko ke xa ujonga le vidiyo yokuqala enikiweyo, umntwana udlala nomnakekeli wakhe aze emva koko aphelelwe yindlela yokuziphatha ngequbuliso aze alahlekelwe yithoni aze awele kwicala lasekunene. Unentloko engasemva nasekunene. Kunzima ukubona ukuba kukho naziphi na iintshukumo zamehlo ezinxulumene noko.

Unenkanyamba kancinci ngexesha lovavanyo, kwaye ungambona umvavanyi ezama ukuvavanya ithoni yemisipha yakhe. Kwakhona, akucaci nokuba ithoni yemisipha yakhe inyukile okanye akunjalo ngokusekelwe koku. Kodwa ngokuqinisekileyo umile intloko yakhe ngasekunene. Emva koko ngokukhawuleza, uyavuka aze aqalise ukudlala enxibelelana nomvavanyi kunye nomnakekeli.

Kwaye akukho siqendu sicacileyo okanye isigaba sasemva kwe-ictal kule vidiyo, kwaye kwakhona, kubonakala ngathi kulungile emva koko.

UGqr. Hugo Morales Briceno: Kukho ividiyo yesibini endiyibize kwiincwadi. Ndicinga ukuba kubalulekile ukuchaza indlela ebonakala ngayo i-spectrum ye-semiology okanye i-phenomenology. Kwaye ndingathanda ukuba-- ukuze abaphulaphuli bachaze oko ukubonayo kwividiyo yesibini yesigulana esahlukileyo esinesifo esifanayo.

UDkt. Asif Doja: Ewe. Ngoko ke lo ngumntwana odlala ebaleka esiya phambili nangasemva. Ekuqaleni [00:08:00], uyazibuza ukuba kukho ingxaki ngokuhamba kwakhe. Ukuhamba kwakhe akubonakali ngathi yinto ebesingayilindela kumntu oneminyaka yakhe. Mhlawumbi uneminyaka emine okanye emihlanu ubudala kwaye mhlawumbi uyathandabuza okanye uyakhubeka kwindlela ahamba ngayo.

Mhlawumbi uzibuza ngendlela eme ngayo ingalo yakhe yasekunene, aze ngokukhawuleza, ngexesha lokudlala, alahlekelwe yithoni, aze awe phantsi. Uncediswe ngumzali wakhe ukuwa phantsi.

Kukho iintshukumo zomlomo ozibonayo. Akukho kuphambuka kwangempela kwamehlo kwaye akukho nezinye iintshukumo ezininzi ezingaqhelekanga ngaphandle kwentshukumo yomlomo.

Ngoko ke akukho zimpawu zomzimba wakhe okanye nantoni na enye. Ubonakala ngathi ujonge macala onke ngeli xesha, aze aphinde aphendule ngokukhawuleza kumgcini wakhe aze aqale ukudlala kwakhona emva koko. Ubonakala ngathi ulwimi lwakhe luphuma kancinci ekupheleni njengoko ephola kwesi siganeko, kodwa kwakhona, inqanaba lakhe lokuphaphama lilungile emva koko.

UGqr. Hugo Morales Briceno: Ndifuna ukusebenzisa ubuchule bakho [00:09:00] kuba olu vavanyo lwevidiyo lunomdla. Ukuba ubona esi sigulana kwikliniki yakho njengakwividiyo, yintoni eza engqondweni yakho? Ingaba kukuxhuzula? Okanye kubonakala ngathi yinto eyahlukileyo? Ubungayilindela ntoni ngesifo esiqhelekileyo, umzekelo, i-myclonic seizure ene-negative phenomenon? Singalindela njani ukuba izinto ziguquke ngexesha lesiganeko?

UDkt. Asif Doja: Ngenxa yokuncipha kokuqaphela kunye nokuma kokuziphatha, ingakumbi kwividiyo yokuqala kunye nokuma, kwaye kwakhona, kwividiyo yesibini kunye nentshukumo yomlomo, ndicinga ukuba kufuneka ucinge ngokuxhuzula ngoko nangoko. Kwaye ndicinga ukuba kufuneka uyisuse le nto kwezi zigulana. Kwakhona, njengoko benditshilo, asikuko konke okubangelwa kukuphazamiseka kokunyakaza, nokuba ungoyena ngcali kwingxaki yokunyakaza, akunjalo?

Ngoko ke ndicinga ukuba kufuneka ikhutshwe. Kodwa ke njengoko ukhankanyile yintoni enye? Kwaye kwakhona, siza kuthetha ngophando, kodwa i-EEG ingaba luncedo kakhulu kwesi sigulana. Kodwa ukuba akunjalo, ngaba ingaba yi-myoclonus? Kulapho iba nzima khona kuba inokuba yi-myoclonus.

Kodwa xa ujonga ezi vidiyo [00:10:00] ngokwenene, ukulahleka kwethoni yesimo akuyonto ikhawulezileyo eyenzeka ngokukhawuleza onokuyibona kwi-myoclonus engalunganga. Oku kuhamba kancinci kakhulu, kwaye unolu hlobo lokulahleka kwethoni yesimo kancinci kancinci. Ngoko ke ayifakwanga ngokwaneleyo ukuba ibe yi-myoclonus ngokoluvo lwam, okanye i-myoclonus engalunganga ngokoluvo lwam.

Ngoko ke ayiqhelekanga. Ngaba ingaba yi-paroxysmal dystonia okanye i-dyskinesia? Kungenzeka ngevidiyo yokuqala, kodwa kwakhona, ividiyo yesibini, akukho ntshukumo zininzi ezihambelana ne-dystonia.

UGqr. Hugo Morales Briceno: Ewe. Ndiyazibuza ukuba ukhe wababona abantwana abane-cataplexy, izigulane endizibonileyo kuphela yayizii-Niemann-Pick type C.

I-WHO, 

UDkt. Asif Doja: Kwaye yiloo nto-- Ewe, ngokuchanekileyo. Ngoko ke- ndinayo, kwaye eneneni yayisisigulana esinePrader-Willi syndrome. Ngoko ke iPrader-Willi syndrome, iNiemann-Pick type C, ezi ziingxaki, kukwakho ne-cataplexy eyaziwayo, enokuba ne-cataplexy ngaphandle kwe-narcolepsy. Ngoko ke isitshixo sale nto, kwaye oku kungaba yi-cataplexy njengoko besitshilo ngaphambili.

Kusenokwenzeka ukuba ezi zinokuba yi-cataplexy. Abantwana babonakala bevuya kancinci kule vidiyo, kuba babedlala. Ngaba oko bekunokuba yimbangela yeemvakalelo ebesinokuyibona kwi-cataplexy ene-narcolepsy? Kodwa u-A, ngesiqhelo bebenokuba nembangela yeemvakalelo njengoko kukhankanyiwe. u-B, kufuneka babe ne-narcolepsy.

Ngoko ke oko kufanele ukuba kucacisiwe kwimbali yokuba babenayo ne-narcolepsy. Kodwa ungabona i-cataplexy eyahlukileyo ngaphandle kwe-narcolepsy. Kunqabile, njengoko utshilo, kwi-Niemann-Pick type C kunye nezinye izifo zemfuza onokuzibona. Ngoko ke oko kusekumahluko kwesi sigulana.

UGqr. Hugo Morales Briceno: Ndineziphumo ezithile kuwe. Ngoko ke iimvavanyo eziqhelekileyo ziquka ukubala kwegazi elipheleleyo, iimvavanyo zezintso, kunye nokusebenza kwesibindi beziqhelekile. Umntwana wayene-MRI yobuchopho eneminyaka emine ubudala kwaye kwaxelwa ukuba uqhelekile. Ividiyo ye-EEG ngexesha lesi siqendu, i-EEG ye-interictal ngexesha lokuvuka nokulala ibonisa isigqi esiqhelekileyo sangasemva esingenangxaki yokuxhuzula kwe-interictal.

Ngexesha lokuhlaselwa, umsebenzi we-[00:12:00] we-EEG awuzange utshintshe kwaye ukwehla okukhulu komsebenzi wemisipha kwi-deltoid myographic electrode kwabonakala ngexesha leziqendu, kwaye yiyo loo nto. Ngoko ke ezi ziphumo zikunceda njani ekuchazeni kwakhona ukuxilongwa kwakho kokwahluka?

UDkt. Asif Doja: Ewe, malunga novavanyo lwesibindi oluqhelekileyo, kufuneka sisoloko sicinga ngeengxaki zokunyakaza isifo sikaWilson. Sinokubangela ukuphazamiseka kokunyakaza kwe-paroxysmal kunye ne-myoclonus kunye nezinye iingxaki ezifana nezo. Ngoko ke kunokwenzeka, kodwa oko akuvumelekanga. I-MRI nayo iyathuthuzela. Ibali lesi sigulana liqala ngaphantsi konyaka ubudala kwaye liqhubeka neziqendu ukuya kuthi ga kwi-24, linxulunyaniswa nokulibaziseka kokukhula, iingxaki zokuthetha, likwenza ucinge ukuba kukho icandelo lemfuza.

Ngoko ke i-MRI ekubeni iqhelekile inceda ekuqiniseni loo nto. Kodwa njengoko ubutshilo, i-EEG iluncedo kakhulu. Njengoko benditshilo, kufuneka uthintele ukuba umntu onesifo sokuxhuzula angabi naso. Kwaye oko kuye kwenziwa ngokucacileyo kwi-EEG. Kodwa kwakhona, uzame amayeza amaninzi okuxuzula, njengoko ubutshilo, [00:13:00] Hugo, kodwa asiboni tshintsho koku.

Ngoko ke ndicinga ukuba kufuneka ubuyele kuyo yonke into echazwe kwesi sigulana. Ndicinga ukuba mhlawumbi, njengoko besixoxile, i-cataplexy engenasifo se-narcolepsy inokwenzeka. Ngoko ke ungafuna ukujonga okufana no-Niemann-Pick type C. Ngaba kukho ubungqina bePrader-Willi? Ezi zinto sithethe ngazo ngaphambili. Kodwa uthe akukho zinto zibangela esi sigulana. Njengokuba uvakalelwa kukuhleka njengoko sibona kwi-cataplexy. Kwaye ke ndicinga ukuba oko akunakwenzeka. Ucinga ukuba le ingaba yenye into ebangela i-paroxysmal?

Ngoko ke, oku kum, kubonisa ngakumbi utshintsho lwe-KCNMA1 olunokubangela olu hlobo lokubanjwa kokuziphatha okungacwangciswanga kunye nokulahlekelwa yi-postural reflexes yakho.

UGqr. Hugo Morales Briceno: Ewe. Ngoko ke esi sigulana besine-whole-exome sequencing ebonisa uhlobo lwe-pathogenic kwi-KCNMA1, njengoko ubutshilo. Kwaye olu lolona hlobo luxhaphakileyo oluxeliweyo kule meko, yi-N995S, [00:14:00] oluyi-gain-of-function variant. Okubangela umdla kukuba, uninzi lwaba baguli lune-phenomenology okanye i-semiology ye-cataplexy okanye banokuxelisa okanye babonakale ngathi kukuxhuzula, njengoko ubutshilo.

Kubalulekile njengovavanyo lokuqala lokwahluka. Kodwa ndicinga ukuba unyango lubalulekile mhlawumbi kwaye unokuba namava kulo, kodwa aba baguli banokusabela kwi-lisdexamfetamine. Ngesizathu esithile, nangona umsebenzi wesiteshi esiguquliweyo, lo ngumjelo we-potassium osebenza yi-calcium.

Kodwa, kubonakala ngathi isizathu sokuba esi sigulana siphendule koku asaziwa. Ngoko ke ndicinga ukuba kwi-differential diagnosis yakho yayichanekile kakhulu kwasekuqaleni ngokumamela ibali, ngokudlula kwi-differential diagnosis esekelwe kwi-phenomenology. Kwaye ndicinga ukuba njengogqirha wezonyango kufuneka [00:15:00] ucinge ngale ndlela yokuba akulula rhoqo ukufumanisa ukuba oku kukuxhuzula okanye akunjalo.

Nokuba ukuxhuzula kungabonakala ngathi kukuphazamiseka kokuhamba. Kukho izifundo ezibonisa ukuba ukuba ndikubonisa ividiyo yesigulana esinesifo sokuxhuzula, ungabekwa njengesifo sokungahambi kakuhle kokuhamba. Ngoko ke akulula. Oko kufuna ukujongwa ngokuchanekileyo. Ndicinga ukuba ukuxilongwa kwakho kokuqala okubanzi nokwahluzwayo kwakuchanekile.

Kwaye enkosi kwakhona, Asif, ngokusinceda kweli tyala, kwaye ndinethemba lokuba ndiza kuphinda ndidlan’ indlebe nawe kungekudala.

UDkt. Asif Doja: Enkosi ngokuba nam

UGqr. Hugo Morales Briceno: Enkosi [00:16:00]