Isihlunu semisipha

Imuscular dystrophy liqela lokuphazamiseka kwilifa elibangela ubuthathaka bemisipha kunye nokuphulukana nethambo lezihlunu, eziba mandundu ngokuhamba kwexesha.

Izihlunu zemisipha, okanye i-MD, liqela leemeko ezizuzwe njengelifa. Oku kuthetha ukuba badluliselwa kwiintsapho. Zisenokwenzeka ebuntwaneni okanye ebudaleni. Zininzi iintlobo ezahlukeneyo ze-muscular dystrophy. Ziquka:

• Becker yemisipha
• I-Duchenne muscular dystrophy
• I-Emery-Dreifuss muscular dystrophy
• I-Facioscapulohumeral muscular dystrophy
• I-Limb-bhanti yebhanti yemisipha
• I-Oculopharyngeal muscular dystrophy
• I-Myotonic muscular dystrophy

I-dystrophy yemisipha inokuchaphazela abantu abadala, kodwa iifom ezinzima kakhulu zihlala zivela ebuntwaneni.

Iimpawu ziyahluka phakathi kweentlobo ezahlukeneyo ze-muscular dystrophy. Zonke izihlunu zinokuchaphazeleka. Okanye, kuphela ngamaqela athile emisipha anokuchaphazeleka, afana nalawo ajikeleze i-pelvis, igxalaba, okanye ubuso. Ubuthathaka bemisipha buya buba mandundu kwaye iimpawu zinokubandakanya:

• Ukulibaziseka kophuhliso lwezakhono zemisipha
• Kunzima ukusebenzisa elinye okanye amaqela amaqela emisipha
• Ukutsala amathe
• Ukujongwa kweenkophe (ptosis)
• Ukuwa rhoqo
• Ukuphulukana nokomelela kwisihlunu okanye iqela lezihlunu njengomntu omdala
• Ukuphulukana nobukhulu bemisipha
• Iingxaki zokuhamba (ukulibaziseka ukuhamba)

Ukukhubazeka kwengqondo kubakhona kwezinye iintlobo ze-muscular dystrophy.

Uvavanyo lomzimba kunye nembali yakho yezonyango luyakunceda umboneleli wezempilo ukuba achonge uhlobo lwe-muscular dystrophy. Amaqela athile emisipha achaphazeleka kwiindidi ezahlukeneyo ze-muscular dystrophy.

Uviwo lunokubonisa:

• Umqolo ogobileyo ngokungaqhelekanga (scoliosis)
• Iikhontrakthi ezidibeneyo (iinyawo, iinzipho, okanye abanye)
• Ithoni yemisipha ephantsi (hypotonia)

Ezinye iintlobo ze-muscular dystrophy zibandakanya imisipha yentliziyo, ebangela i-cardiomyopathy okanye isingqi sentliziyo esingaqhelekanga (arrhythmia).

Rhoqo, kukho ukulahleka kobunzima bemisipha (ukuchitha). Oku kunokuba nzima ukukubona kuba ezinye iintlobo ze-muscular dystrophy zibangela amanqatha kunye nezicwili ezinxibelelanayo ezenza ukuba umsipha ubonakale mkhulu. Oku kubizwa ngokuba yi-pseudohypertrophy.

I-biopsy ye-muscle ingasetyenziselwa ukuqinisekisa ukuxilongwa. Ngamanye amaxesha, uvavanyo lwegazi lwe-DNA lusenokuba kuko konke okufunekayo.

Olunye uvavanyo lunokubandakanya:

• Uvavanyo lwentliziyo-i-electrocardiography (ECG)
• Ukuvavanywa kwemithambo-ukuhanjiswa kwemithambo-luvo kunye ne-electromyography (EMG)
• Ukuchama kunye nokuvavanywa kwegazi, kubandakanya inqanaba le-CPK
• Ukuvavanywa kwemfuza kwezinye iintlobo ze-muscular dystrophy

Akukho lunyango lwaziwayo kwii-muscular dystrophies ezahlukeneyo. Injongo yonyango kukulawula iimpawu.

Unyango lomzimba lunokunceda ukugcina amandla emisipha kunye nokusebenza. Ukuqiniswa kwemilenze kunye nesitulo esinamavili kunokuphucula ukuhamba nokuzikhathalela. Ngamanye amaxesha, utyando emqolo okanye emilenzeni kunokunceda ukuphucula ukusebenza.

ICorticosteroids ethathwe ngomlomo ngamanye amaxesha imiselwe abantwana abaneedystrophies ezithile zemisipha ukugcina behamba ixesha elide kangangoko kunokwenzeka.

Umntu kufuneka asebenze kangangoko kunokwenzeka. Akukho nto iyenzayo (enje nge bedrest) enokusenza mandundu esi sifo.

Abanye abantu abanobuthathaka bokuphefumla banokuxhamla kwizixhobo zokunceda ukuphefumla.

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

Ubungqongqo bokukhubazeka buxhomekeke kuhlobo lwe-muscular dystrophy. Zonke iintlobo zedystrophy yemisipha ngokuthe ngcembe ziya zisiba mbi, kodwa ukuba kwenzeka ngokukhawuleza kangakanani na oku kwahluka kakhulu.

Ezinye iintlobo ze-muscular dystrophy, ezinje ngeDuchenne muscular dystrophy kubafana, ziyabulala. Ezinye iintlobo zibangela ukukhubazeka okuncinci kwaye abantu banobomi obuqhelekileyo.

Fowunela umnikezeli wakho ukuba:

• Unempawu ze-muscular dystrophy.
• Unembali yobuqu okanye yosapho ye-muscular dystrophy kwaye ucwangcisa ukuba nabantwana.

Ingcebiso ngemfuzo iyacetyiswa xa kukho imbali yosapho ye-muscular dystrophy. Abasetyhini abanokuba neempawu, kodwa basenayo imfuza yokuphazamiseka. I-Duchenne muscular dystrophy inokufunyanwa ngokuchanekileyo malunga ne-95% ngezifundo zofuzo ezenziwe ngexesha lokukhulelwa.

Ukunyanga kwilifa; MD

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

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.

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