Isifo Sengculaza

Izimpawu Nezokwelapha ze-SBMA

Isifo se-Kennedy, esaziwa nangokuthi u-spinal bulbar muscular atrophy noma i-SBMA, isifo esiyilungu lezinzwa. Isifo se-Kennedy sithinta amangqamuzana akhethekile e-nerve alawula ukunyakaza kwe-muscle (ikakhulukazi, ama-neurons aphansi), okubangela ukuhamba kwemisipha eminingi yezingalo nemilenze. Kuphinde kuthinte izinzwa ezilawula imisipha ye-bulbar, elawula ukuphefumula, ukugwinya nokukhuluma.

I-Kennedy isifo singabangela futhi i-androgen (i-hormone yamadoda) ukungabi namuntu okwehliswayo okubangela amabele akhulisiwe emadodeni, ukunciphisa ukuzala, kanye ne-atrophy ye-testicular.

Isifo se-Kennedy sibangelwa ukukhubazeka kwezakhi zofuzo kwi-X (isifazane) i-chromosome. Njengoba abantu besilisa bane-X kuphela ye-chromosome, banesifo esibucayi kakhulu. Amantombazane, anama-chromosome amabili amabili, angathatha isisindo esingenasici kwenye i-chromosome eyodwa ye-X, kodwa enye i-chromosome evamile ye-X inciphisa noma ifihle izimpawu zesifo. Isifo se-Kennedy silinganiselwa ukuthi senzeke kubantu abangu-1 ku-40,000 emhlabeni jikelele.

Izimpawu ze-Kennedy Disease

Ngokwesilinganiso, izimpawu ziqala kubantu abaneminyaka engama-40 kuya kwengu-60. Izimpawu zihamba kancane, futhi zingabandakanya:

Isifo se-Kennedy singaba neminye imiphumela emzimbeni, kufaka phakathi:

Ukuhlonza Isimo

Kunezinkinga eziningi ze-neuromuscular ezinempawu ezifana nesifo se-Kennedy, ngakho-ke ukuhlukunyezwa noma ukuhlolwa kwengqondo kungase kube okuvamile.

Ngokuvamile, abantu abanesifo se-Kennedy bacatshangwa ngephutha ukuthi bane- amyotrophic lateral sclerosis (i-ALS, noma isifo sikaLou Gehrig). Kodwa-ke, i-ALS, kanye nezinye izifo ezifanayo, azibandakanyi ukuphazamiseka kwe-endocrine noma ukulahlekelwa kwenzwa.

Ukuhlolwa kofuzo kungase kuqinisekiswe ukuthi i-Kennedy disease defect ikhona kwi-X chromosome. Uma ukuhlolwa kofuzo kulungile, akukho ezinye izivivinyo okudingeka zenziwe uma ukuxilongwa kungenziwa kusuka ekuhlolweni kofuzo kuphela.

Ukwelashwa kwe-SBMA

Isifo se-Kennedy noma i-SBMA asithinti isikhathi sokuphila, ngakho-ke ukwelashwa kugxile ekulondolozeni umsebenzi womzimba womuntu wonke kulo lonke impilo yakhe ngokusebenzisa ezinye izinhlobo zokwelashwa ezilandelayo:

Lezi zinhlobo zokwelapha zibalulekile ekugcineni amakhono omuntu kanye nokuzivumelanisa nokuqhubeka kwesifo. Imishini ephathekayo efana nokusetshenziswa kwamagundane noma izihlalo zabakhubazekile ngamandla angasiza ukugcina ukuhamba nokuzimela.

Ukululekwa nge-Genetic

Isifo se-Kennedy sihlotshaniswa ne-X (esifazane) ye-chromosome, ngakho-ke uma owesifazane ethwala isakhi esingenasici, amadodana akhe anethuba elingamaphesenti angama-50 anesifo esiyinkinga kanye namadodakazi akhe anethuba elingama-50% lokuba ngumthwali.

Abababa abakwazi ukudlulisela isifo seKennedy emadodaneni abo. Amadodakazi abo, kodwa, azoba yiziphathamandla zezakhi zofuzo.

Imithombo:

I-Barkhaus, i-PE (2003). Isifo se-Kennedy.

I-Kennedy's Disease Association. "Iyini Izifo ZakaKennnedy?"