I-Duchenne muscular dystrophy

I-Duchenne muscular dystrophy sisifo esifa njengesihlunu. Kubandakanya ubuthathaka bemisipha, obuba mandundu ngokukhawuleza.

I-Duchenne muscular dystrophy luhlobo lwe-muscular dystrophy. Iba mandundu ngokukhawuleza. Ezinye i-dystrophies zemisipha (kubandakanya i-Becker muscular dystrophy) iba mandundu ngokuthe kratya.

I-Duchenne muscular dystrophy ibangelwa sisifo esingalunganga se-dystrophin (iproteni kwimisipha). Nangona kunjalo, kuhlala kwenzeka ebantwini ngaphandle kwembali yosapho eyaziwayo yale meko.

Imeko ihlala ichaphazela amakhwenkwe ngenxa yendlela esifumana ngayo esi sifo. Oonyana babafazi abaphethe esi sifo (abasetyhini abanesiphene semfuza, kodwa akukho mpawu ngokwabo) ngamnye kubo unethuba elingama-50% lokuba nesifo. Iintombi nganye zinama-50% ithuba lokuba ngabathwali. Kunqabile kakhulu, umntu obhinqileyo unokuchaphazeleka sesi sifo.

I-Duchenne muscular dystrophy yenzeka malunga nomntwana omnye kwabangama-3600 kwiintsana ezingamadoda. Ngenxa yokuba esi sisifo esizuzwe njengelifa, umngcipheko ubandakanya imbali yosapho yeDuchenne muscular dystrophy.

Iimpawu zihlala zibonakala ngaphambi kweminyaka yobudala be-6. Zinokuvela kwasebusaneni. Uninzi lwamakhwenkwe alubonakalisi zimpawu kwiminyaka embalwa yokuqala yobomi.

Iimpawu zingabandakanya:

• Ukudinwa
• Ubunzima bokufunda (i-IQ inokuba ngaphantsi kwama-75)
• Ukukhubazeka kwengqondo (kunokwenzeka, kodwa ayibi mandundu ngokuhamba kwexesha)

Ubuthathaka bemisipha:

• Iqala emilenzeni nakwisinqe, kodwa ikwenzeka kabuhlungu ezingalweni, entanyeni, nakwezinye iindawo zomzimba
• Iingxaki ngezakhono zemoto (ukubaleka, ukuxhuma, ukuxhuma)
• Ukuwa rhoqo
• Ingxaki yokuvuka kwindawo yokulala okanye ukunyuka kwezinyuko
• Ukuphefumla kancinci, ukudinwa nokudumba kweenyawo ngenxa yokuqobeka kwesihlunu sentliziyo
• Ingxaki yokuphefumla ngenxa yokuba buthathaka kwezihlunu zokuphefumla
• Ukunyuka kokunyuka kobuthathaka

Ukuqhubela phambili kobunzima bokuhamba:

• Amandla okuhamba anokulahleka eneminyaka eli-12, kwaye umntwana kuya kufuneka asebenzise isitulo esinamavili.
• Ubunzima bokuphefumla kunye nesifo sentliziyo zihlala ziqala ngeminyaka engama-20.

Inkqubo egqibeleleyo yemithambo-luvo (yemithambo-luvo), intliziyo, imiphunga kunye novavanyo lwezihlunu zinokubonisa:

• Ukungaqhelekanga, isifo sentliziyo esigulayo (i-cardiomyopathy) siyabonakala ngeminyaka eli-10.
• Ukungaphumeleli kwentliziyo okanye ukungahambi kakuhle kwentliziyo (arrhythmia) ikhona kubo bonke abantu abaneDuchenne muscular dystrophy eneminyaka eyi-18.
• Ukukhubazeka kwesifuba kunye nomqolo (scoliosis).
• Imisipha eyandisiweyo yamathole, iimpundu, kunye namagxa (malunga neminyaka emi-4 okanye emi-5). Ezi zihlunu ekugqibeleni zithathelwa indawo ngamanqatha kunye nezicwili ezinxibelelanayo (pseudohypertrophy).
• Ukuphulukana nobunzima bemisipha (ukumosha).
• Izivumelwano zemisipha kwizithende, emilenzeni.
• Ukukhubazeka kwemisipha.
• Iziphazamiso zokuphefumla, kubandakanya inyumoniya kunye nokuginya ngokutya okanye ulwelo oludlulela emiphungeni (kwinqanaba lesifo).

Uvavanyo lunokubandakanya:

• Umbane we-Electromyography (EMG)
• Uvavanyo lwemfuzo
• Imisipha biopsy
• ISerum CPK

Akukho lunyango lwazi lweDuchenne muscular dystrophy. Unyango lujolise ekulawuleni iimpawu ukuphucula umgangatho wobomi.

Iziyobisi zeSteroid zinokucothisa ilahleko yamandla emisipha. Zinokuqalwa xa kufunyaniswa umntwana okanye xa amandla emisipha eqala ukuncipha.

Olunye unyango lunokubandakanya:

• I-Albuterol, ichiza elisetyenziselwa abantu abane-asthma
• Ii-amino acid
• Zobuhlanga
• ICoenzyme Q10
• Yila
• Ioli yeentlanzi
• Izicatshulwa zeti eluhlaza
• Vitamin E

Nangona kunjalo, iziphumo zolu nyango azingqiniswanga. Iiseli zestem kunye nonyango lwemfuza zinokusetyenziswa kwixa elizayo.

Ukusetyenziswa kwe-steroids kunye nokungabikho kwemisebenzi yomzimba kunokukhokelela ekuzuzeni ubunzima obukhulu. Umsebenzi uyakhuthazwa. Ukungasebenzi (njengendawo yokulala) kunokwenza isifo semisipha sibe mandundu. Unyango lomzimba lunokunceda ukugcina amandla emisipha kunye nokusebenza. Unyango lwentetho luyafuneka rhoqo.

Olunye unyango lunokubandakanya:

• Uncedo lokungenisa umoya (olusetyenziswa emini okanye ebusuku)
• Iziyobisi ukunceda ukusebenza kwentliziyo, njenge-angiotensin yokuguqula i-enzyme inhibitors, iibhloko ze-beta, kunye ne-diuretics
• Izixhobo zeOrthopedic (ezinje ngeebrakhwe kunye nezitulo ezinamavili) ukuphucula ukuhamba
• Utyando lomqolo ukunyanga ukuqhubela phambili kwescoliosis kwabanye abantu
• Iiproton pump inhibitors (kubantu abane-reflux yegastroesophageal)

Amayeza amatsha aliqela afundwa kwizilingo.

Ungaluphelisa uxinzelelo lokugula ngokujoyina iqela lenkxaso apho amalungu abelana ngamava aqhelekileyo kunye neengxaki. Umbutho weMuscular Dystrophy ngumthombo obalaseleyo wolwazi ngesi sifo.

I-Duchenne muscular dystrophy ikhokelela ekuqhubekeni kokuqina kokukhubazeka. Ukufa kuhlala kwenzeka kubudala beminyaka engama-25, ngesiqhelo kwimiphunga. Nangona kunjalo, inkqubela phambili kukhathalelo oluxhasayo kukhokelele ekubeni amadoda amaninzi aphile ixesha elide.

Iingxaki zinokubandakanya:

• I-Cardiomyopathy (inokuthi yenzeke nakwizithwali zabasetyhini, ekufuneka bevavanyiwe)
• Ukungaphumeleli kwentliziyo (inqabile)
• Iziphene
• I-arrhythmias yentliziyo (inqabile)
• Ukuphazamiseka kwengqondo (kuyahluka, kuhlala kuncinci)
• Ukukhubazeka okusisigxina, okuqhubela phambili, kubandakanya ukuncipha kokuhamba kunye nokunciphisa amandla okuzikhathalela
• I-pneumonia okanye ezinye izifo zokuphefumula
• Ukusilela kokuphefumla

Fowunela umboneleli wakho wezempilo ukuba:

• Umntwana wakho uneempawu zeDuchenne muscular dystrophy.
• Iimpawu ziba nzima, okanye iimpawu ezintsha ziyavela, ngakumbi umkhuhlane ngokukhohlela okanye iingxaki zokuphefumla.

Abantu abanembali yosapho yesi sifo banokufuna ukucetyiswa ngemfuza. Izifundo zofuzo ezenziwa ngexesha lokukhulelwa zichanekile kakhulu ekufumaneni iDuchenne muscular dystrophy.

IPseudohypertrophic muscular dystrophy; Imisipha yedystrophy -uhlobo lweDuchenne

• I-X enxulumene neziphene zemfuza ezi-X-amakhwenkwe achaphazeleka njani
• I-X enxulumene neziphene zemfuza

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.

Umbutho weMuscular Dystrophy Association. www.mda.org/disease/duchenne-muscular-dystrophy. Kufumaneka ngo-Oktobha 27, 2019.

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

IWarner WC, iSawyer JR. Iingxaki ze-Neuromuscular. Ku: Azar FM, Beaty JH, Kanale ST, ii-eds. Umsebenzi weCampbell's Orthopedics. Umhla we-13. IPhiladelphia, PA: Elsevier; Ngo-2017: isahluko 35.