Iimpawu kunye noTyango lweSBMA
Isifo seKennedy, esaziwa nangokuthi i-spinal bulbar muscular atrophy okanye i-SBMA, yintlupheko yesifo segazi. Isifo se-Kennedy sichaphazela iiseli ezikhethekileyo ezilawula ukunyakaza kwemizimba (ngokukodwa, i-motor neurons ezantsi) ezijongene nokunyakaza kwemizimba emininzi yemilenze nemilenze. Kwakhona kuthintela iimbilini ezilawula izihlunu ze-bulbar, ezilawula ukuphefumla, ukugwinya nokuthetha.
Isifo se-Kennedy singakhokelela kunye ne-androgen (i-hormone yamadoda) yokungabi nesikhokelo esenza ukuba amabele awandiswe ngamadoda, ukunciphisa ukuzala, kunye ne-atrophy ye-testicular.
Isifo seKennedy sibangelwa ukukhubazeka kwezesifo kwi-X (yebhinqa) i-chromosome. Ekubeni abesilisa abane-X kuphela ye-chromosome, abachaphazeleka kakhulu yintlungu. Amaqhina, anesibini i-chromosomes, angathatha i-i-chromosome ye-X enye, kodwa enye i-X i-chromosome eqhelekileyo iyanciphisa okanye ifihla iimpawu zesifo. Isifo seKennedy silinganiselwa ukuba senzeke kwi-1 kubantu abangama-40,000 emhlabeni jikelele.
Izibonakaliso zezifo zeKennedy
Ngokomyinge, iimpawu ziqala kubantu abaneminyaka engama-40 ukuya kuma-60 ubudala. Iimpawu ziza ngokukhawuleza, kwaye zingabandakanya:
- Ubuthathaka kunye neengcambu ze-muscle kwiingalo nasemilenzeni
- Ubuthathaka bomzimba, umlomo kunye nolwimi lweentlungu. Iqhina liyakunqumla okanye ligubungele, kwaye ilizwi lingaba lukhulu.
- Ukuqhawula izihlunu ezincinci ezingabonwa phantsi kwesikhumba.
- Ukugubha okanye ukuthuthumela ngezikhundla ezithile. Izandla zinokuthuthumela xa uzama ukuthabatha okanye ubambe into ethile.
- Ubungakanani okanye ukulahlekelwa kwintlungu kwiindawo ezithile zomzimba.
Isifo se-Kennedy sinokunye ukuchaphazeleka emzimbeni, kubandakanya:
- I-Gynecomastia , ithetha ukukhulisa iisifuba zesifuba kumadoda
- I-Atrophy yeTestyle, apho izidalwa zenyama zokuzala ziyancipha ngobukhulu kwaye zilahlekelwa ngumsebenzi.
Ukuxilongwa kweMeko
Kukho iintlobo zeengxaki ze-neuromuscular ezinempawu ezifana nesifo seKennedy, ngoko ukungaxilisi kakuhle okanye ukuxilongwa kwe-diagnostic.
Ngokuqhelekileyo, abantu abaneentsholongwane zikaKennedy bacinga ngephutha ukuba bane- amyotrophic lateral sclerosis (i-ALS, okanye isifo sikaLou Gehrig). Nangona kunjalo, i-ALS, kunye nezinye izifo ezifanayo, azibandakanyi ukuphazamiseka kwe-endocrine okanye ukulahlekelwa kwintlungu.
Uvavanyo lofuzo luyakwazi ukuqinisekisa ukuba isifo se-Kennedy sisisikho kwi-X ye-chromosome. Ukuba ukuhlolwa kofuzo kulungile, akukho zodwa iimvavanyo ezifunekayo ukuba zenziwe njengoko ukuxilongwa kunokwenziwa kwimivavanyo yofuzo kuphela.
Unyango lwe SBMA
Isifo se-Kennedy okanye iSBMA asinakuchaphazela ixesha lokuphila, ngoko unyango lujolise ekugcineni umsebenzi womzimba womntu ngokugqithiseleyo ebomini bakhe ngokusebenzisa ezinye zeentlobo zonyango:
- Ulungiso lwenyama
- Unyango
- Unyango lo kuthetha
Ezi ntlobo zonyango zibalulekile ukugcina ubuchule bomntu kunye nokulungelelanisa ukuqhubela phambili kwesi sifo. Izixhobo ezithintekayo ezifana nokusetyenziswa kweenqanawa okanye izihlalo zamasondo ezinokuthi zikwazi ukugcina ukuhamba nokuzimela.
Ukululekwa ngeGenesis
Isifo seKennedy sidibene ne-X (isetyhini) se-chromosome, ngoko ke ukuba ngaba umfazi ungumthwali we-gene defective, oonyana bakhe banethuba eli-50% lokuba neengxaki kunye neentombi zakhe zinama-50% amathuba okuba ngumthwali.
Ootata abanakudlulisela isifo sikaKennedy kubantwana babo. Iintombi zabo, ke, ziya kuba zithwala i-gene defective.
Imithombo:
Barkhaus, PE (2003). Isifo seKennedy.
I-Kennedy's Disease Association. "Ziyintoni Isifo Sengqondo?"