Becker yemisipha

I-Becker muscular dystrophy sisifo esizuzwe njengelifa esichaphazela ngokuthe chu ukomelela kobuthathaka bemisipha yemilenze kunye nesinqe.

Becker muscular dystrophy iyafana kakhulu neDuchenne muscular dystrophy. Umahluko ophambili kukuba iya isiba mandundu kwinqanaba elicothayo kwaye ayixhaphakanga. Esi sifo sibangelwa kukutshintsha kwemfuza okufaka iprotein ebizwa ngokuba yi-dystrophin.

Esi sifo sidluliswa kwiintsapho (ezizuzwe njengelifa). Ukuba nembali yosapho yale meko kuphakamisa umngcipheko wakho.

I-Becker dystrophy yemisipha yenzeka malunga ne-3 ukuya kwi-6 kuyo yonke i-100,000 yokuzalwa. Esi sifo sifumaneka ikakhulu kubafana.

Abafazi kunqabile ukuba bavelise iimpawu. Amadoda aya kuphuhlisa iimpawu ukuba azuza njengelifa ufuzo olungalunganga. Iimpawu zihlala zibonakala kubafana abaphakathi kweminyaka emi-5 ukuya kweli-15, kodwa zisenokuqala kamva.

Ubuthathaka bemisipha yomzimba ongezantsi, kubandakanya imilenze kunye nendawo ye-pelvis, ngokuthe ngcembe iya isiba mandundu, ibangele:

• Ukuhamba nzima kuya kusiba mandundu ngokuhamba kwexesha; Ngeminyaka engama-25 ukuya kwengama-30, umntu uhlala engakwazi ukuhamba
• Ukuwa rhoqo
• Kunzima ukuphakama phantsi kunye nokunyuka kwezinyuko
• Ubunzima ngokubaleka, ukuxhuma kunye nokutsiba
• Ukuphulukana nobunzima bemisipha
• Ukuhamba ngeenzwane
• Ubuthathaka bemisipha kwiingalo, entanyeni, nakwezinye iindawo azikho nzima njengasemzimbeni ongezantsi

Ezinye iimpawu zingabandakanya:

• Iingxaki zokuphefumla
• Iingxaki zokuqonda (ezi azibi mbi ngokuhamba kwexesha)
• Ukudinwa
• Ukuphulukana nokulingana kunye nokulungelelanisa

Umboneleli wezempilo uya kwenza inkqubo ye-nervous (neurological) kunye nokuhlolwa kwemisipha. Imbali yezonyango enononophelo ikwabalulekile, kuba iimpawu ziyafana nezo zeDuchenne muscular dystrophy. Nangona kunjalo, i-Becker dystrophy yemisipha iya isiba mandundu ngokuthe kratya.

Uviwo lunokufumana:

• Amathambo aphuculwe ngokungaqhelekanga, ekhokelela ekukhuleni kwesifuba nasemva (scoliosis)
• Umsebenzi ongaqhelekanga wentliziyo (cardiomyopathy)
• Ukungaphumeleli kwentliziyo okanye ukubetha kwentliziyo okungaqhelekanga (arrhythmia) - kunqabile
• Ukukhubazeka kwemisipha, kubandakanya ukunxibelelana kwezithende kunye nemilenze, amanqatha angaqhelekanga kunye nezicubu ezinxibelelanayo kwimisipha yethole
• Ukulahleka kwemisipha okuqala emilenzeni kunye ne-pelvis, emva koko kuye kwiimisipha zamagxa, intamo, iingalo kunye nenkqubo yokuphefumla.

Uvavanyo olunokwenziwa lunokubandakanya:

• Uvavanyo lwegazi lweCPK
• Ukuvavanywa kwemithambo-luvo ye-Electromyography (EMG)
• Imisipha ye-biopsy okanye uvavanyo lwegazi

Akukho lunyango lwazi lwe Becker muscular dystrophy. Nangona kunjalo maninzi amayeza amatsha okwangoku aphantsi kovavanyo lweklinikhi abonisa isithembiso esibalulekileyo ekunyangeni isifo.Iinjongo zangoku zonyango kukulawula iimpawu zokwandisa umgangatho wobomi bomntu. Abanye ababoneleli banika ii-steroids ukunceda ukugcina isigulana sihamba ixesha elide kangangoko kunokwenzeka.

Umsebenzi uyakhuthazwa. Ukungasebenzi (njengokuphumla ebhedini) kunokusenza mandundu isifo sesisipha. Unyango lomzimba lunokuba luncedo ekugcineni amandla emisipha. Izixhobo zamathambo ezinjengezihlangu zezilima kunye nezihlalo ezinamavili zinokuphucula intshukumo kunye nokuzikhathalela.

Umsebenzi wentliziyo ongaqhelekanga unokufuna ukusetyenziswa kwesincedisi-ntliziyo.

Ingcebiso ngemfuzo inokucetyiswa. Iintombi zendoda ene-Becker muscular dystrophy ziya kuthwala i-gene engalunganga kwaye ziyidlulisele koonyana bazo.

Ungaluphelisa uxinzelelo lwesifo ngokujoyina iqela lenkxaso yemisipha apho amalungu abelana ngamava aqhelekileyo kunye neengxaki.

I-Becker dystrophy ye-muscular ikhokelela ekukhubazekeni okucothayo. Nangona kunjalo, inani lokukhubazeka liyahluka. Abanye abantu banokufuna isitulo esinamavili. Abanye banokufuna kuphela ukusebenzisa izixhobo zokuhamba ezinje ngemijondolo okanye izihlangu zezilima.

Ubomi bempilo buhlala buncitshiswa ukuba kukho iingxaki zentliziyo nokuphefumla.

Iingxaki zinokubandakanya:

• Iingxaki ezinxulumene nentliziyo ezinje nge-cardiomyopathy
• Ukungaphumeleli kwemiphunga
• I-pneumonia okanye ezinye izifo zokuphefumula
• Ukwanda kunye nokukhubazeka okusisigxina okukhokelela ekwehliseni amandla okuzikhathalela, ukunciphisa ukuhamba

Fowunela umnikezeli wakho ukuba:

• Iimpawu zeBackker muscular dystrophy zivela
• Umntu one-Becker muscular dystrophy uvelisa iimpawu ezintsha (ngakumbi umkhuhlane ngokukhohlela okanye ubunzima bokuphefumla)
• Uceba ukuqala usapho kwaye wena okanye amanye amalungu osapho afunyaniswe ene-Becker muscular dystrophy

Ingcebiso ngemfuzo inokucetyiswa ukuba kukho imbali yosapho ye-Becker muscular dystrophy.

Pseudohypertrophic muscular dystrophy; Dystrophy kaBekker

• Imisipha yangaphandle yangaphandle
• Izihlunu zangaphakathi ezinzulu
• Iitendon kunye nezihlunu
• Imisipha yomlenze osezantsi

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Bharucha-Goebel DX. Izihlunu zemisipha. Ku: Kliegman RM, St Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, ii-eds. Incwadi kaNelson yeNcwadi yePediatrics. Umhla wama-21. IPhiladelphia, PA: Elsevier; 2020: isahluko 627.

UGloss D, uMoxley RT III, u-Ashwal S, u-Oskoui M. Isikhokelo sokuziqhelanisa nokuhlaziya isishwankathelo: unyango lwe-corticosteroid ye-Duchenne muscular dystrophy: ingxelo yeKomitana yoPhuhliso lweZikhokelo ze-American Academy ye-Neurology. Neurology. Ngo-2016; 86 (5): 465-472. IINKCUKACHA: 26833937 pubmed.ncbi.nlm.nih.gov/26833937/.

USelcen D. Izifo zemisipha. Ku: IGoldman L, iSchafer AI, ii-eds. Amayeza eGoldman-Cecil. Ngomhla wama-26. IPhiladelphia, PA: Elsevier; 2020: isahluko 393.