Matenda a Joubert ndi vuto la kubadwa kwabadwa komwe ubongo umene umayendetsa bwino ndi kugwirizana siukukhazikika. Amapezeka mwa amuna ndi akazi, pafupifupi mmodzi mwa ana 100,000 obadwa. Matenda a Joubert kaŵirikaŵiri amapezeka mwa mwana yemwe alibe mbiri ya banja la matenda, koma kwa ana ena, matendawa akuwoneka kuti alandira.
Zizindikiro
Zizindikiro za matenda a Joubert zimagwirizana ndi kupititsa patsogolo kwa ubongo womwe umatchedwa cerebellar vermis.
Zizindikiro, zomwe zingakhale zochepa mpaka zochepa malinga ndi momwe ubongo uliri wosapangidwira, zingaphatikizepo izi:
- Nthawi yakupuma mofulumira (episodic hyperpnea), zomwe zingawoneke ngati kupuma
- makina oyang'ana maso (nystagmus)
- nkhope yooneka ngati maosi (ptosis), kutsegula pakamwa ndi lilime lokhazikika, makutu otsika
- kuchepetsa maganizo
- vuto loyendetsa kayendedwe ka modzipereka (ataxia)
Ziwalo zina zoberekera monga zala zala ndi zala (polydactyly), zofooka za mtima, kapena milomo yopweteka kapena mkamwa zingakhalepo. Kugonjetsedwa kungathenso kupezeka.
Kudziwa
Chizindikiro chodziwika kwambiri mu khanda limene lili ndi matenda a Joubert ndi nthawi yopuma mofulumira kwambiri, yomwe ikhoza kutsatiridwa ndi kusiya kupuma (apnea) kwa mphindi imodzi. Ngakhale zizindikirozi zingathe kuchitika m'mavuto ena, palibe vuto la mapapu ku matenda a Joubert, omwe amathandiza kuzindikira kuti ndi chifukwa cha kupuma kwabwino.
Kujambula kwa magnetic resonance (MRI) kungayang'ane zolakwika za ubongo zomwe ziripo mu matenda a Joubert ndipo zimatsimikizira kuti zimapezeka.
Chithandizo
Palibe chithandizo cha matenda a Joubert, kotero mankhwala akuyang'ana pa zizindikiro. Makanda omwe ali ndi kupuma kwapadera angakhale ndi kupuma (apnea) kuyang'anira ntchito kunyumba, makamaka usiku.
Mankhwala, ntchito, ndi mauthenga angakhale othandiza kwa anthu ena. Anthu omwe ali ndi vuto la mtima, malingaliro kapena malungo, kapena kugwa kwa matenda angafunike chithandizo chamankhwala.
Zotsatira:
> Merritt, Linda. "Kuzindikira zizindikiro za matenda a Joubert matenda." Kupititsa patsogolo pa chisamaliro cha mwana wodwala 3 (2003): 178-188.
> "NINDS Joubert Syndrome Information Page." Kusokonezeka. 13 Feb 2007. bungwe la National for Neurological Disorders ndi Stroke. http://www.ninds.nih.gov/disorders/joubert/joubert.htm.