Joubert syndrome chirwere chekuberekwa kwechimiro umo nzvimbo yeuropi iyo inodzora kuenzanisa uye kubatana haina kusimbiswa. Izvo zvinoitika kune varume nemadzimai, mune imwechete muzvuru zana zvevana. Joubert syndrome inowanzoitika mumwana asina nhoroondo yemhuri yehutano, asi mune vamwe vana, chirwere chinoratidzika sechikagara nhaka.
Zviratidzo
Zviratidzo zveJoubert syndrome zvakabatana nekudzika kwekuvandudzwa kwenzvimbo yeuropi inonzi cerebellar vermis, iyo inodzora kuenzanisa uye kusvibiswa kwemishu.
Zviratidzo, izvo zvinogona kubva pane zvinyoro kusvikira zvakanyanya zvichienderana nehuwandu hwehuropi husina kusimbiswa, hunogona kusanganisira:
- Nguva dzekufema zvisina kufanira zvakanyanya (episodic hyperpnea), izvo zvingaita sekutengesa
- jerky eye kufamba (nystagmus)
- chiso chechimiro chinosanganisira maziso emajoni (ptosis), kuzarura muromo nemurimi unoputika, nzeve dzakadzika
- kuora mwoyo kwepfungwa
- kunetseka kurongedza kuzvipira kwemisimba kufamba (ataxia)
Zvimwe kukanganisa kuberekwa zvakadai seimwe minwe uye zvigunwe (polydactyly), kukanganiswa kwemwoyo, kana kuvhara kana muromo kunogona kuvapo. Kukanganisika kunogonawo kuitika.
Kuziva
Chiratidzo chinonyanya kuzivikanwa muchechechecheche ine Joubert syndrome ndiyo nguva yekufema zvakanyanya, izvo zvinogona kuteverwa nekurega kufema (apnea) kweminiti imwe chete. Kunyange zvazvo zviratidzo izvi zvingaitika pane zvimwe zvinetso, hapana mapapu emapapu muJoubert syndrome, iyo inobatsira kuziva kuti ichi ndicho chinokonzera kufema kusinganzwisisiki.
A magnetic resonance imaging (MRI) scan inogona kutarisa uropi husina kunaka huripo muJoubert syndrome uye hunosimbisa kuongororwa.
Kurapa
Ikoko hakuna mushonga weJoubert syndrome, saka kurapa kunotarisa pane zviratidzo. Vacheche vane kupisa zvisina kufanira vanogona kufema (apnea) kuongorora kushandiswa pamba, kunyanya usiku.
Kurapa kwepanyama, basa, uye kutaura kunogona kubatsira kune vamwe vanhu. Vanhu vane upfumi hwemwoyo, miromo yemukati kana chirwere, kana kukanganisa kunogona kuwedzera kurapwa kweutano.
Sources:
> Merritt, Linda. "Kuzivikanwa kwezviratidzo zvechipatara nezviratidzo zveJoubert syndrome." Kufambira Mberi muNeonatal Care 3 (2003): 178-188.
> "NINDS Joubert Syndrome Information Page." Matambudziko. 13 Feb 2007. National Organisation for Neurological Disorders and Stroke. http://www.ninds.nih.gov/disorders/joubert/joubert.htm.