I-Becker dystrophy yemisipha

I-Becker muscular dystrophy yisifo esizuzwe njengefa esibandakanya ukuwohloka kancane kancane kwemisipha yemilenze nesikhumba.

I-Becker dystrophy yemisipha ifana kakhulu ne-Duchenne muscular dystrophy. Umehluko omkhulu ukuthi iya iba yimbi ngezinga elihamba kancane futhi akuvamile. Lesi sifo sidalwa ukushintsha kofuzo olufaka iprotheni ebizwa nge-dystrophin.

Lesi sifo sidluliselwa ngemindeni (ezuzwe njengefa). Ukuba nomlando womndeni walesi simo kukhulisa ubungozi bakho.

I-Becker dystrophy yemisipha yenzeka cishe kwezingu-3 kuye kwezi-6 kwezingu-100 000 ezizalwayo. Lesi sifo sitholakala kakhulu kubafana.

Abesifazane abavamile ukuba nezimpawu. Abesilisa bayoba nezimpawu uma bezuza ifa lesakhi sofuzo esingalungile. Izimpawu zivame ukuvela kubafana abaphakathi kweminyaka emihlanu nengu-15, kepha zingaqala ngemuva kwesikhathi.

Ubuthakathaka bemisipha bomzimba ongezansi, kufaka phakathi imilenze nendawo yesikhumba, kuya ngokuya kuba kubi, kubangele:

• Kunzima ukuhamba okuya kuba kubi ngokuhamba kwesikhathi; ngeminyaka engama-25 kuya kwengama-30, umuntu uvame ukungakwazi ukuhamba
• Ukuwa njalo
• Kunzima ukusukuma phansi nokukhuphuka izitebhisi
• Kunzima ukugijima, ukugxuma, nokugxuma
• Ukulahleka kwemisipha
• Ukuhamba ngozwane
• Ubuthakathaka bemisipha ezingalweni, entanyeni, nakwezinye izindawo abunamandla njengasemzimbeni ongezansi

Ezinye izimpawu zingafaka:

• Izinkinga zokuphefumula
• Izinkinga zokuqonda (lezi azibi kubi ngokuhamba kwesikhathi)
• Ukukhathala
• Ukulahlekelwa ibhalansi nokuxhumanisa

Umhlinzeki wezokunakekelwa kwempilo uzokwenza ukuhlolwa kwezinzwa (izinzwa) kanye nokuhlolwa kwemisipha. Umlando wezokwelapha oqaphelayo nawo ubalulekile, ngoba izimpawu ziyefana nezikaDuchenne muscular dystrophy. Kodwa-ke, i-Becker dystrophy yemisipha iya iba yimbi kancane kancane.

Ukuhlolwa kungathola:

• Amathambo athuthukiswe ngokungajwayelekile, okuholela ekukhubazekeni kwesifuba nangemuva (scoliosis)
• Umsebenzi ongajwayelekile wenhliziyo (i-cardiomyopathy)
• Ukwehluleka kwenhliziyo yokuqina noma ukushaya kwenhliziyo okungajwayelekile (arrhythmia) - akuvamile
• Ukukhubazeka kwemisipha, kufaka phakathi izinkontileka zezithende nemilenze, amafutha angajwayelekile nezicubu ezixhumanayo emisipheni yethole
• Ukulahleka kwemisipha okuqala emilenzeni nasesinqeni, bese kudlulela emisipheni yamahlombe, entanyeni, ezingalweni, nasekuphefumuleni

Ukuhlolwa okungenziwa kufaka phakathi:

• Ukuhlolwa kwegazi le-CPK
• Ukuhlolwa kwezinzwa ze-Electromyography (EMG)
• Ukuhlolwa kwegazi lemisipha noma ukuhlolwa kwegazi

Alikho ikhambi elaziwayo le-Becker muscular dystrophy. Kodwa-ke kunemithi eminingi emisha manje ehlolelwa imitholampilo ekhombisa isithembiso esibalulekile ekwelapheni lesi sifo.Inhloso yamanje yokwelashwa ukulawula izimpawu ukukhulisa ikhwalithi yempilo yomuntu. Abanye abahlinzeki banikeza ama-steroids ukusiza ukugcina isiguli sihamba isikhathi eside ngangokunokwenzeka.

Umsebenzi uyakhuthazwa. Ukungasebenzi (njengokulala embhedeni) kungenza isifo semisipha sibe sibi kakhulu. Ukwelashwa ngokomzimba kungasiza ukugcina amandla emisipha. Izinto zokusebenza zamathambo ezinjengezinsimbi eziqinisa izinduku nezihlalo ezinamasondo zingathuthukisa ukunyakaza nokuzinakekela.

Ukusebenza kwenhliziyo okungajwayelekile kungadinga ukusetshenziswa kwe-pacemaker.

Ukwelulekwa ngofuzo kunganconywa. Amadodakazi endoda ene-Becker muscular dystrophy cishe azothwala isakhi sofuzo esingalungile futhi asidlulisele emadodaneni abo.

Ungakunciphisa ukucindezela kokugula ngokujoyina iqembu lokuxhaswa kwemisipha lapho amalungu abelana ngokuhlangenwe nakho okuvamile nezinkinga.

I-Becker dystrophy yemisipha iholela ekukhubazekeni okuya ngokuya kwehla. Kodwa-ke, inani lokukhubazeka liyahlukahluka. Abanye abantu bangadinga isihlalo sabakhubazekile. Abanye bangadinga ukusebenzisa izinsiza zokuhamba njengezindondolo noma izinsimbi zokubopha.

Isikhathi sokuphila sivame ukufinyezwa uma kunezinkinga zenhliziyo nokuphefumula.

Izinkinga zingafaka:

• Izinkinga ezihlobene nenhliziyo ezifana ne-cardiomyopathy
• Ukwehluleka kwamaphaphu
• I-pneumonia noma ezinye izifo zokuphefumula
• Ukukhubazeka okwandayo nokuhlala njalo okuholela ekwehliseni ikhono lokuzinakekela, ukwehla kokuhamba

Shayela umhlinzeki wakho uma:

• Izimpawu ze-Becker muscular dystrophy ziyavela
• Umuntu one-Becker muscular dystrophy uba nezimpawu ezintsha (ikakhulukazi umkhuhlane ngokukhwehlela noma ubunzima bokuphefumula)
• Uhlela ukuqala umndeni kanti wena noma amanye amalungu omndeni utholwe une-Becker muscular dystrophy

Ukwelulekwa ngofuzo kungalulekwa uma kunomlando womndeni we-Becker muscular dystrophy.

I-Benign pseudohypertrophic muscular dystrophy; I-Becstr's dystrophy

• Imisipha yangaphandle engaphezulu
• Imisipha yangaphakathi ejulile
• Ama-tendon nemisipha
• Imisipha yomlenze engezansi

Amato AA. Ukuphazamiseka kwemisipha yamathambo. Ku: Daroff RB, Jankovic J, Mazziotta JC, Pomeroy SL, ama-eds. I-Neurology kaBradley ekwenziweni kwemitholampilo. Umhla wesi-7. IPhiladelphia, PA: Elsevier; 2016: isahluko 110.

I-Bharucha-Goebel DX. Ama-dystrophies emisipha. Ku: Kliegman RM, St Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Incwadi kaNelson Yezingane. Umhlaka 21. IPhiladelphia, PA: Elsevier; 2020: isahluko 627.

UGloss D, Moxley RT III, Ashwal S, Oskoui M. Practice umhlahlandlela wokubuyekeza umhlahlandlela: ukwelashwa kwe-corticosteroid yeDuchenne muscular dystrophy: umbiko weKomidi Elincane Lokuthuthukiswa Kwezinkombandlela zeAmerican Academy of Neurology. Neurology. 2016; 86 (5): 465-472. I-PMID: 26833937 pubmed.ncbi.nlm.nih.gov/26833937/.

Selcen D. Izifo zemisipha. Ku: IGoldman L, iSchafer AI, ama-eds. Imithi yeGoldman-Cecil. Umhla ka-26. IPhiladelphia, PA: Elsevier; 2020: isahluko 393.