I-Joubert syndrome yisici sokuzalwa kokuzalwa kofuzo lapho indawo yobuchopho elawula ukulinganisela nokusebenzisana engakhiwa khona. Kuyenzeka kokubili abesilisa nabesifazane, cishe ku-100,000 ukuzalwa. I-Joubert syndrome ivame ukuvela enganeni engenamlando womndeni wesifo, kepha kwezinye izingane, i-syndrome ibonakala izuzwe njengefa.
Izimpawu
Izimpawu ze-Joubert syndrome zihlobene nokuthuthukiswa kwengqondo yendawo engqondo yobuchopho okuthiwa i-cerebellar vermis, elawula ukulinganisela nokuhlangana kwemisipha.
Izimpawu, ezingase zibe phakathi komnene kuya ezinzima kuye ngokuthi ubuchopho bukhulu kangakanani, bungabandakanya:
- Izikhathi zokuphefumula okungavamile (i-episodic hyperpnea), okungase kubonakale sengathi i-panting
- ukunyakaza kwe-jerky (nystagmus)
- izici zobuso ezibonakalayo njengamahlombe ama- drooping (i-ptosis), umlomo ovulekile olimini oluqhubekela phambili, izindlebe eziphansi
- ukuphuza kwengqondo
- ubunzima bokuxhumanisa ukuhamba kwemisipha yokuzithandela (ataxia)
Ezinye iziphambeko zokuzalwa ezifana neminwe eyengeziwe kanye nezinzwani (polydactyly), ukukhubazeka kwenhliziyo, noma umlomo womlomo noma i-palate kungenzeka. Kungenzeka futhi ukuqubuka.
Ukuxilongwa
Isibonakaliso esibonakala kunazo zonke entsheni esanda kuzalwa neJoubert syndrome yizikhathi zokuphefumula okungavamile, okungase kulandelwe ukuyeka ukuphefumula (i-apnea) kuze kube yimizuzu eyodwa. Nakuba lezi zimpawu zingase zivele kwezinye izinkinga, azikho izinkinga zamaphaphu ku-Joubert syndrome, okusiza ukuyikhomba njengesizathu sokuphefumula okungavamile.
I-scanning magnetic resonance imaging (MRI) ingabheka ubuchopho obubi obukhona ku-Joubert syndrome futhi buqinisekisa ukuxilongwa.
Ukwelapha
Akukho ukwelashwa kwe-Joubert syndrome, ngakho ukwelashwa kugxile ezimpawu. Izinsana ezinokuphefumula okungavamile zingabhekwa ukuphefumula (i-apnea) ukuqapha ekhaya, ikakhulukazi ebusuku.
Ukwelapha ngokomzimba, emsebenzini, nokukhuluma kungaba usizo kwabanye abantu. Abantu abanokukhubazeka kwenhliziyo, umlomo womlomo noma umlenze, noma ukugwinya kungadinga ukwelashwa okwengeziwe.
Imithombo:
> Merritt, uLinda. "Ukuqaphela izimpawu zomtholampilo ze-Joubert syndrome." Intuthuko Ekunakekelweni Kwezingane Neonatal 3 (2003): 178-188.
> "Ikhasi Lolwazi lwe-NINDS Joubert Syndrome." Izinkinga. 13 Feb 2007. Inhlangano Kazwelonke Yezinkinga Neurological and Stroke. http://www.ninds.nih.gov/disorders/joubert/joubert.htm.