Ingabe othile oseduze nawe une-Coffin-Lowry Syndrome? Ake sixoxe ngayo!

Wake wezwa ngesimo esibizwa ngokuthi i-Coffin-Lowry Syndrome (CLS)? Igama lingase libe lisha kuwe. Yisimo esingavamile, esihambisana nofuzo esingavamile kubantu abaningi. Singathinta izingxenye ezahlukene zomzimba ngezindlela ezahlukene. Ake sixoxe ngaso ngendlela elula ongayiqonda.

Sivame kangakanani lesi simo?

Eqinisweni, lesi `(Coffin-Lowry Syndrome)` asivamile kakhulu. Uma sikhuluma iqiniso, ososayensi bathi senzeka cishe koyedwa kubantu abangu-50,000 kuya ku-100,000. Lokho kusho ukuthi kuyisimo esingavamile kakhulu. Enye into ukuthi ezimweni eziningi, okungukuthi, phakathi kuka-70% no-80%, akekho emndenini okungenzeka ukuthi wayenalesi simo ngaphambili. Lokho kusho ukuthi amacala angavamile yiwona avame kakhulu.

Ubani onamathuba amaningi okuthola lesi simo?

Lesi simo `(CLS)` singathinta abafana namantombazane. Kodwa-ke, izimpawu zivame ukuba zimbi kakhulu kubafana. Ikakhulukazi, abafana abane-`(CLS)` bavame ukuba nokukhubazeka okukhulu kwengqondo. Kodwa-ke, isimo sihlukile kancane kumantombazane. Amanye amantombazane angase abe nokuhlakanipha okuvamile, kanti amanye angase abe nokukhubazeka okuncane, okuphakathi, noma okukhulu kwengqondo. Kuyahlukahluka kuye ngomuntu ngamunye.

Kungani lokhu kwenzeka? Yiziphi izizathu zalokhu?

Esikhathini esiningi, i-Coffin-Lowry syndrome ibangelwa ukuguquka kwezakhi zofuzo okubizwa ngokuthi i-`RPS6KA3` emzimbeni wethu. Manje ungase uzibuze ukuthi iyini i-gene, akunjalo? Kalula nje, izakhi zofuzo zifana nesethi yemiyalelo emincane emzimbeni wethu. Izinto ezifana nombala wezinwele zethu, ukuphakama, nombala wesikhumba kunqunywa yilezi zakhi zofuzo. Ngakho-ke, le gene ye-`RPS6KA3` yenza iphrotheni ekhethekile esiza amangqamuzana ethu "ukukhulumisana", okungukuthi, ukushintshana ngolwazi. Uma kukhona iphutha, okungukuthi, ukuguquka kwezakhi zofuzo, kule gene, ukukhiqizwa kwaleyo phrotheni emzimbeni kuyancipha. Kodwa-ke, ososayensi abakacaci ngokuphelele ngokuthi ukwehla kwale phrotheni kuhlobene kanjani ne-Coffin-Lowry syndrome.

Kunezikhathi lapho abanye abantu beba nesimo esithi `(CLS)` kodwa akukho guquko olungatholakala ku-gene yabo ethi `RPS6KA3`. Ezimweni ezinjalo, imbangela yalesi simo isalokhu iyimfihlakalo.

Ziyini izimpawu zalokhu?

Izimpawu ze-Coffin-Lowry syndrome zingahluka kakhulu kumuntu nomuntu. Njengoba kushiwo ngaphambili, zinzima kakhulu kubafana. Lezi zimpawu zithinta izingxenye ezahlukene zomzimba futhi zibonakala kakhulu ngokukhula.

Izici ezikhethekile zibonakala ebusweni

Kunezici ezithile ezingabonakala ekubukekeni kobuso babantu abanalesi simo. Lezi yizi:

• Amehlo aqhelelene kancane kunokujwayelekile, futhi amakhona amehlo abonakala ehla kancane phansi.
• Izindlebe zikhulu kunezivamile futhi zibekwe phansi.
• Ibunzi, amashiya, kanye nesilevu kubonakala kahle.
• Impumulo iphakanyisiwe futhi amakhala abanzi.
• Umlomo ubanzi futhi izindebe zijiyile.

Izici ezikhethekile ezingabonakala ezandleni

Ezinye izinguquko zingabonakala nasezandleni:

• Iminwe enamalunga amabili.
• Iminwe ijiyile phansi futhi incane ngaseziqongweni (`iminwe enciphile`).
• Izandla zizwakala zinkulu futhi zithambile.

Izinkinga ezingabonakala emathanjeni

Kungase kube nezinkinga ezithile ngohlaka lomzimba:

• Kuyabonakala i-hunchback, okusho ukuma okugobile (`kyphosis` noma `scoliosis`).
• Izinkinga zamazinyo; isibonelo, izinguquko esimweni somlomo, amazinyo angekho, njll.
• Ithambo eliphakathi lesifuba liphuma phambili noma lishona ngaphakathi.
• Ukufinyezwa kwamathambo amade ezitho (isib., i-femur, i-tibia, kanye ne-humerus).
• Ubufushane bomzimba (ukufinyezwa kobude).
• Ikhanda lincane kunosayizi ojwayelekile (i-Microcephaly).

Ezinye izimpawu ezivamile

Ngaphezu kwalokhu, ezinye izimpawu zingabonakala:

• Ukulibaziseka kokukhula kanye nokukhubazeka kwengqondo.
• Ukuhlaselwa ngokuwa: Lokhu kukhethekile kancane. Cabanga, ngokuphendula umsindo osheshayo, isenzakalo esisheshayo, noma imizwa enamandla, bawa phansi ngokuzumayo, bebonakala bengazi lutho. Into exakile ukuthi, bayazi ngaleso sikhathi, kodwa abakwazi ukulawula imizimba yabo. Lokhu kubizwa ngokuthi `(iziqephu zokuwa ezibangelwa yi-stimulus)`.
• Ukukhubazeka kokuzwa.
• Isikhumba siyaxega futhi siyanwebeka.
• Izinkinga zenhliziyo, isibindi, noma izinso.
• Uzwane olukhulu olufushane.
• Ubunzima bokukhuluma.
• Ubuthakathaka bemisipha nokulahlekelwa amandla.

Uyibona kanjani le nkinga?

Kunezindlela eziningana udokotela angazixilonga ngazo i-Coffin-Lowry syndrome:

• Ukuqapha izimpawu: Udokotela uhlola ingane ngokucophelela ukuze abone ukuthi inazo yini izimpawu ezithile ezishiwo ngenhla.
• Ukuhlolwa kwezakhi zofuzo: Ukuhlolwa kwesikhumba noma igazi kungaqinisekisa ukuthi kukhona yini ukuguquka kwezakhi zofuzo ze-RPS6KA3.
• Ama-X-ray: Ama-X-ray angasiza ekuboneni imiphumela emgogodleni, eminweni, nasemathanjeni amade.
• Ukuskena kobuchopho (`Izifundo ze-Neuroimaging`): Nakuba lokhu kusetshenziselwa ukufunda okwengeziwe ngobuchopho, kona kuphela akukwazi ukuxilonga lesi sifo ngokuqiniseka.

Ingabe ikhona ikhambi eliphelele lalokhu? Yiziphi izindlela zokwelapha?

Ngeshwa, ayikho ikhambi noma ukwelashwa okuqondile kwe-Coffin-Lowry syndrome. Umgomo oyinhloko ukuphatha lesi simo, ukunciphisa izimpawu, nokusiza abantu baphile kahle futhi ngenjabulo ngangokunokwenzeka.

Abantu abanalesi simo bangadinga ukubona ochwepheshe abaningi njalo. Isibonelo:

• Odokotela bezindlebe: Laba yibo abanakekela izinkinga zokuzwa.
• Odokotela benhliziyo: Laba ngabantu abaxilonga futhi belapha izinkinga zenhliziyo.
• Odokotela bezinzwa: Laba odokotela abaphatha izinkinga ezihlobene nobuchopho kanye nesimiso sezinzwa.
• Odokotela bamehlo: Ngezinkinga ezihlobene nombono.
• Odokotela bamathambo: Laba ngabantu abelapha izinkinga zamathambo, amalunga kanye nomgogodla .
• Ochwepheshe bamazinyo: Mayelana namazinyo nempilo yomlomo.
• Abelaphi bezemisebenzi: Siza abantu benze imisebenzi yansuku zonke, njengokudla nokubhala, ngempumelelo.
• Abelaphi bomzimba: Basiza ekuthuthukiseni amandla omzimba kanye nokunyakaza.
• Abelaphi benkulumo: Basiza ngobunzima bokukhuluma kanye nokubambezeleka.

Kulezo zigameko zokwehla okukhulunywe ngazo ekuqaleni, udokotela angase anikeze imithi yokulwa nokuxhuzula noma imithi yokulwa nokukhathazeka. Ukukhubazeka okukhulu kwamathambo kungadinga ukuhlinzwa.

Udokotela wakho angase futhi akuphakamise ukuthi uthole ukwelulekwa ngofuzo.

Ngingakuvimbela yini lokhu ukuthi kwenzeke enganeni yami?

Ososayensi abakakazi kahle ukuthi yini ebangela lokhu kuguquka kwezakhi zofuzo, noma ukuthi yini ebangela lokho okubizwa ngokuthi 'izimo ezingavamile'. Ngakho-ke, okwamanje ayikho indlela yokuvimbela i-Coffin-Lowry syndrome. Umama onalesi simo unethuba elingu-50% lokuthi ingane yakhe izozuza lesi simo. Ukuhlolwa kwezakhi zofuzo ngaphambi kokubeletha kungathola ukuthi kukhona lokhu kuguqulwa kwezakhi zofuzo ngesikhathi sokukhulelwa. Udokotela wakho angase futhi ancome ukuthi amalungu omndeni aseduze athole ukwelulekwa kwezakhi zofuzo.

Kwenzekani uma mina noma ingane yami sinalesi simo? Lizoba yini ikusasa?

Manje ungase ucabange, "O, uma ingane yami inalesi simo, ikusasa layo liyoba njani ?" Empeleni, akubona bonke abane-Coffin-Lowry Syndrome abafanayo. Abanye abathinteki kakhulu, abanye bathinteka kakhulu. Ngakho-ke, ukuthi ikusasa liphetheni kumuntu ngamunye kuyahlukahluka. Kuya ngokuthi yiziphi izingxenye zomzimba ezithintekile nokuthi imiphumela imbi kangakanani.

Into ebaluleke kakhulu ukuthi ngisho nengane enalesi simo ingaphumelela empilweni ngangokunokwenzeka uma ithola ukwesekwa okudingekayo, ukwelashwa, nothando.

Ingabe i-Coffin-Lowry syndrome ingaba yingozi empilweni?

Lesi simo singanciphisa isikhathi sokuphila ngezinga elithile. Ezinye izifundo zibonise ukuthi cishe abafana abangu-13.5% kanye namantombazane angu-4.5% analesi simo bafa, ngokwesilinganiso, lapho beneminyaka engu-20.5. Kodwa-ke, lokhu akuvamile kuwo wonke umuntu.

Yini enye engingayibuza udokotela wami ngalokhu?

Uma wena noma ingane yakho ine-CLS, ungase ufune ukubuza udokotela wakho imibuzo efana nalokhu:

• "Yiziphi izingxenye zomzimba wami/wengane yami ezithintekile ngempela yilesi simo?"
• "Ingabe kukhona imiphumela esongela ukuphila evela kule miphumela?"
• "Hlobo luni lochwepheshe okufanele sibabone? Kufanele sibabone kangaki?"
• "Uyancoma imithi noma ukuhlinzwa kulokhu?"
• "Ingabe akhona amaqembu okusekelana angasisiza sibhekane nalesi simo?"
• "Ucabanga ukuthi kungaba ngumqondo omuhle ukuthola ukwelulekwa ngofuzo esimweni sethu?"
• "Ingabe kuwumqondo omuhle ukuthola ukuhlolwa kofuzo komndeni wethu wonke?"

Ngakho-ke, yiziphi izinto ezibaluleke kakhulu okudingeka sizikhumbule kukho konke lokhu? (Umyalezo Wokuya Ekhaya)

I-Coffin-Lowry Syndrome (CLS) iyisimo esingavamile, esizalwa naso sofuzo esingathinta izingxenye eziningi zomzimba. Izimpawu ziyahlukahluka kumuntu nomuntu, kodwa izici zobuso, ukukhubazeka kwamathambo, kanye nokukhubazeka kwengqondo kuvamile.

Nakuba kungekho ikhambi eliqondile lalokhu, ungacela usizo kochwepheshe abahlukahlukene kanye nabelaphi ukuze baphathe izimpawu zakho futhi baphile impilo yakho kahle ngangokunokwenzeka.

Uma usola noma uke watholakala unalesi simo, sicela ufune iseluleko sezokwelapha. Bazokunikeza isiqondiso nokusekelwa okudingayo. Khumbula, awuwedwa. Kunezinsiza kanye namaqembu okusekela angasiza imindeni ebhekene nalezi zimo.

I- Coffin-Lowry Syndrome, i-CLS, ukukhubazeka kwezakhi zofuzo, ukukhubazeka kokuzalwa, ukukhubazeka kwengqondo, ukukhubazeka kwamathambo, ukuhlaselwa kokuwa