Ingabe ingane yakho iyaqhaqhazela futhi iqine ngokuzumayo? Ake sifunde ngale hyperekplexia!

Ingabe usana lwakho noma ingane yakho encane iyathuthumela ngokuzumayo lapho izwa umsindo noma ukuthinta okuncane? Ingabe iyaqina futhi izwa sengathi ishayiswa yidwala? Ingabe izwa sengathi iphelelwa umoya? Uma wake waphawula into efana nale, kungaba yisimo esibizwa ngokuthi i-Hyperekplexia. Ungakhathazeki, sizoxoxa ngakho ngokuningiliziwe.

Iyini le hyperekplexia?

Kalula nje, i-Hyperekplexia yisimo esingavamile kakhulu sezinzwa. Lokhu kwenzeka lapho imisipha yengane yakho iba lukhuni kakhulu (ngokwezokwelapha okubizwa ngokuthi "i-Hypertonia"). Ngakho-ke, banenkinga yokunyakaza imisipha yabo ngendlela efanele.

Ngaphezu kwalokho, laba bantwana babonisa ukusabela okweqile kokushaqeka ezintweni ezisheshayo nezingalindelekanga (njengomsindo osheshayo, ukuthinta, noma ukunyakaza). Lokhu kushaqeka kungabangela umzimba ukuba uqhumuke futhi amehlo acwayize. Ngemva kwalokhu kushaqeka, umzimba womntwana uba lukhuni isikhashana, futhi angakwazi ukunyakaza. Into eyingozi kakhulu ukuthi ezinye izingane zingase ziyeke ukuphefumula ngalesi sikhathi. Uma lokhu kuqhubeka, kungaba yingozi empilweni. Ngezinye izikhathi lesi simo singase sihlotshaniswe ne-Sudden Infant Death Syndrome (SIDS).

Odokotela bavame ukubona lesi simo ezinganeni ezisanda kuzalwa, kungaba ngaphambi noma ngemva kokuzalwa. Kodwa-ke, lesi simo, esibizwa ngokuthi i-hyperekplexia, singavela nasezinganeni nakubantu abadala.

Kunezinye amagama amaningana alesi simo:

• I-Congenital stiff-person syndrome (`(Congenital stiff-person syndrome)`)
• I-Hereditary hyperekplexia (`(Hereditary hyperekplexia)`)
• Isifo sokushaqeka
• I-Startle syndrome (`(i-Startle syndrome)`)
• I-Stiff-baby syndrome

Sivame kangakanani lesi simo?

Lokhu empeleni akuvamile. Cabanga nje, ngisho nasezweni elifana neMelika, lesi simo sibonakala ngesilinganiso sabantu abacishe babe munye kwabangu-40,000. Ngakho-ke lokhu kuyinto engavamile kakhulu eSri Lanka.

Ziyini izimpawu ze-Hyperekplexia?

Kunezinhlobo ezimbili eziyinhloko zalesi simo: Uhlobo olukhulu kanye nohlobo oluncane.

Imodi enkulu

Lokhu kwenzeka lapho ngokuzumayo, ngokungalindelekile, wethuka ngendlela engavamile ngokuthinta, ukunyakaza, noma umsindo. Uma wethuka, ungase uzizwe ikhanda lakho ligobile emuva, umzimba wakho uqhaqhazela futhi wenze ukunyakaza okungavamile, noma umzimba wakho uqina bese uwela phansi njengetshe.

Uma umntwana elala, angase abe nokunyakaza okushukumisayo. Ngaphezu kwalokho, i-hypertonia ivame kakhulu ezinganeni ezinalesi simo. Zingase futhi zihambe kancane (okubizwa ngokuthi i-hypokinesia) futhi zingase zibe nokukhubazeka okuncane kwengqondo .

Ezinye izimpawu ezingase zivele ezinganeni, ezinganeni nakubantu abadala abanalesi simo esiyinhloko se-hyperekplexia zifaka:

• I-Hyperreflexia (ukusabela ngokweqile)
• Ukuphefumula okungapheli (i-apnea)
• Ukuhamba okungazinzile (ukuhamba okungazinzile)
• Ukuphuma kwesinqe ngesikhathi sokuzalwa
• I-hernia ye-inguinal.

Ifomu elincane

Kule ndlela emnene, abantu abane-hyperekplexia bavame ukuzwa impendulo yokushaqeka engavamile, eyeqisayo. Ezinye izimpawu zingase zibe zincane noma zingabi khona. Ezinsaneni, ukudikiza kunganda uma zinomkhuhlane . Ezinganeni nakubantu abadala, ukudikiza kunganda ngamandla ngenxa yokucindezeleka noma ukukhathazeka .

Izimpawu zazo zombili lezi zinhlobo zivame ukuqala lapho umuntu ezalwa, kodwa kwabanye abantu, ziqala ukuvela kamuva ebuntwaneni noma ebudaleni.

Kungani kwenzeka le hyperekplexia?

Imbangela eyinhloko yalokhu ukuguquka kwezakhi zofuzo. Ngokwalokho osekutholakale, okungenani izakhi zofuzo ezinhlanu ezahlukene zingabangela le hyperekplexia. Lezi zakhi zofuzo yilezi:

• `I-ATAD1`
• `GLRA1`
• `I-GLRB`
• `I-GPHN`
• `SLC6A5`

Lezi zakhi zofuzo zidlala indima ebaluleke kakhulu ekukhiqizeni amaprotheni athile kumaseli ethu ezinzwa (ama-neurons). Lawa maphrotheni alawula indlela amangqamuzana ezinzwa asabela ngayo ku-molecule emzimbeni wethu ebizwa ngokuthi i-glycine. I-Glycine iyi-amino acid, okuyisakhiwo samaprotheni. I-Glycine nayo iyi-neurotransmitter. Lena yikhemikhali ethumela izimpawu ohlelweni lwethu lwezinzwa.

Ngokuvamile, i-glycine ilawula ukukhuthazwa kwemicu yemisipha. Kodwa-ke, uma kukhona ushintsho lwezakhi zofuzo (ukuguqulwa) kwenye yezakhi zofuzo ezishiwo ngenhla, umphumela we-glycine ohlelweni lwezinzwa uyancishiswa. Ngemuva kwalokho, amangqamuzana ezinzwa athumela imiyalezo ebuchosheni nasemisipheni ngaphandle kokulawula. Yingakho imisipha iqala ukusabela ngokweqile, bese kuvela ezinye izimpawu ze-hyperekplexia.

Kunezindlela ezimbili ongazuza ngazo lesi simo njengefa , i-Hyperekplexia:

1. Ngendlela elawulayo ye-autosomal.

2. Ngendlela yokugoba kwe-autosomal.

Lezi yizinkinga zofuzo eziyinkimbinkimbi kakhulu, ngakho udokotela wakho angachaza lokhu kabanzi.

Yiziphi izinkinga zalesi simo?

Sesishilo kakade ukuthi uma izinsana ezisanda kuzalwa zine-hyperekplexia, imizimba yazo iyaqina futhi ingakwazi ukunyakaza isikhashana. Phakathi nalokhu kuqina, ezinye izinsana zingase ziyeke ukuphefumula. Lokhu kuyimbangela ehamba phambili ye-sudden infant death syndrome (SIDS). I-SIDS iyimbangela ehamba phambili yokufa okungachazeki ezinganeni ezingaphansi konyaka owodwa ubudala.

Akuvamile kakhulu ukuthi izingane ezine-hyperekplexia nazo zingase zibe nesifo sokuwa (`(Epilepsy)`), noma lokho esikubiza ngokuthi isifo sokuwa.

Izimpawu ze-hyperekplexia zivame ukuphela lapho umuntu eneminyaka eyodwa. Kodwa-ke, izingane kanye nabantu abadala abanalesi simo bangase baqhubeke nokuthuthumela kalula kanye nokuqina. Lokhu kungabangela ukuba bawe njalo. Njengoba bekhula, bangase bangakwazi ukubekezelela imisindo emikhulu kanye nezindawo ezinabantu abaningi. Abantu abanesifo sokuwa bangase babe nokuxhuzula impilo yabo yonke.

Ukuthola kanjani lokhu?

Uma bethola lesi simo i-Hyperekplexia, odokotela bagxila ezimpawini ezintathu eziyinhloko:

• Umzimba wonke uqina ngokushesha ngemva kokuzalwa .
• Impendulo yokwethuka eyeqile esikhuthazweni esingalindelekile.
• Ngemva kokushaqeka, umzimba wonke uba lukhuni isikhashana.

Ukuhlolwa okuvamile - ukuhlolwa kwegazi, ukuhlolwa komchamo, ukuskena kobuchopho kanye ne-EEG - konke kubonisa imiphumela evamile. Kodwa-ke, ukuhlolwa kofuzo kungakhomba izinguquko ezinhlanu zofuzo ezihlobene nalesi simo.

Ingabe ikhona indlela yokwelapha i-Hyperekplexia?

Yebo, ingelashwa! Kubantwana nakubantu abadala, ukwelashwa okuyinhloko kwe-hyperekplexia umuthi obizwa ngokuthi `(Clonazepam)`, onciphisa ukukhathazeka futhi unciphise ukuqina kwemisipha. `(Clonazepam)` umuthi wokudambisa omnene ongowesigaba `(Benzodiazepine)`. Kuyasiza ekunciphiseni izimpawu ze-hyperekplexia, ikakhulukazi ukuqina kwemisipha. Odokotela bavame ukunikeza ama-milligram angu-0.01 kuya ku-0.1 ngekhilogramu yesisindo somzimba ngosuku kubantwana kanye nama-milligram angu-0.8 ngosuku kubantu abadala.

Udokotela wakho angase akunike eminye imithi eminingana yokwelapha lesi simo. Isibonelo:

• I-Carbamazepine (`(Carbamazepine)`)
• I-Phenobarbitol (`(Phenobarbital)`)
• I-Phenytoin (`(Phenytoin)`)
• I-Diazepam (`(Diazepam)`)
• I-Sodium valproate (`(i-Sodium valproate)`)

Ezinye izindlela zokwelapha zingafaka phakathi ukwelashwa ngokomzimba kwezinkinga zokuhamba kanye nokwelashwa kwengqondo nokuziphatha (i-CBT) ukunciphisa ukukhathazeka.

Ikusasa lizoba njani kulesi simo? (Isibikezelo)

Ezimweni eziningi, izimpawu ze-hyperekplexia ezinganeni zizophela lapho sezinonyaka owodwa ubudala. Lezo yizindaba eziduduzayo ngempela. Kodwa-ke, ezinganeni nakubantu abadala, imiphumela yalesi simo ingahlala impilo yonke. Kodwa-ke, njengoba kushiwo ngaphambili, kunemithi engasiza ukulawula izimpawu.

Ingabe lokhu kungavinjelwa?

I-Hyperekplexia yisimo sofuzo, ngakho-ke asinakuvinjelwa. Uma ukhathazekile noma unemibuzo ngokuthi ingane yakho izolithola yini leli gciwane, kuwumqondo omuhle ukukhuluma nomeluleki wezakhi zofuzo. Khona-ke ungathola ukuqonda okucacile ngalokhu.

Ngizinakekela kanjani mina? / Nginakekela ingane yami?

Uma wena noma ingane yakho ninesifo se-hyperekplexia, kubalulekile ukuthatha imithi enikezwe udokotela wakho ngesikhathi esifanele. Udokotela wakho uzoncoma izindlela zokwelapha ezingcono kakhulu zesimo sakho. Le mithi kufanele isize ekulawuleni izimpawu zakho.

Kufanele ngimbone nini udokotela?

Uma ingane yakho esanda kuzalwa ine-hyperekplexia, udokotela uvame ukuyiqaphela lapho izalwa. Ngezinye izikhathi ingatholakala ngisho nangaphambi kokuzalwa. Uma lokhu kwenzeka, udokotela wengane yakho uzoqala ukwelashwa ngokushesha.

Kodwa-ke, uma wena noma ingane yakho nizwa ukuxhuzula okungachazeki , kubalulekile ukubona udokotela ngokushesha, njengoba lesi simo, esibizwa ngokuthi i-hyperekplexia, singaba imbangela yokuxhuzula.

Yimiphi imibuzo okufanele ngiyibuze udokotela wami?

Uma wena noma ingane yakho ninesifo se-hyperekplexia, kuwumqondo omuhle ukubuza udokotela wakho le mibuzo:

• Kungani lesi simo senzeke? (Yini imbangela yalokhu?)
• Yiluphi uhlobo lokwelashwa oluncomayo?
• Kungenzeka yini ukuthi izingane zami zesikhathi esizayo zibe nale hyperekplexia?

Okokugcina, izinto okufanele uzikhumbule

Kuvamile ukuzizwa udabuke futhi ushaqekile lapho uthola ukuthi usana lwakho lune-Hyperekplexia. Akekho ofuna ukubona ingane yakhe ihlupheka. Kodwa uma wena noma ingane yakho nihlushwa yilesi simo, khumbula ukuthi awuwedwa. Ithimba lakho lezokwelapha lihlala likhona ukukusiza. Bazokunikeza ukwelashwa ukusiza ukulawula izimpawu zalesi simo.

Into ebaluleke kakhulu ukuthi, uma ingane yakho ine-Hyperekplexia,Khumbula ukuthi lezi zimpawu cishe zizophela lapho zifika osukwini lwazo lokuzalwa lokuqala. Lokho kuyimpumuzo enkulu, akunjalo? Ngakho-ke, bhekana nalesi simo ngesibindi, ulandele iseluleko sezokwelapha.

I- Hyperekplexia, ukudikiza kwengane, ukuqaqamba kwemisipha, izifo zezinzwa, izifo zofuzo, izinsana ezisanda kuzalwa, i-SIDS, i-clonazepam