I-Duchenne muscular dystrophy

I-Duchenne muscular dystrophy yisifo semisipha esizuzwe njengefa. Kubandakanya ubuthakathaka bemisipha, obuqala ukuba buhlungu ngokushesha.

I-Duchenne muscular dystrophy uhlobo lwe-muscular dystrophy. Kuba kubi ngokushesha. Amanye ama-dystrophies emisipha (kufaka phakathi i-Becker muscular dystrophy) aya ngokuya eba mancane kakhulu.

I-Duchenne muscular dystrophy ibangelwa isakhi esingalungile se-dystrophin (iprotheni emisipheni). Kodwa-ke, kuvame ukuvela kubantu abangenawo umlando womndeni owaziwayo walesi simo.

Isimo sivame ukuthinta abafana ngenxa yendlela lesi sifo esizuzwe ngayo njengefa. Amadodana abesifazane abaphethe lesi sifo (abesifazane abanesakhi sofuzo esingalungile, kodwa bengenazo izimpawu ngokwabo) ngamunye unethuba elingama-50% lokuba nalesi sifo. Amadodakazi ngamunye anethuba elingu-50% lokuba ngabathwali. Kuyaqabukela, owesifazane angathintwa yilesi sifo.

I-Duchenne muscular dystrophy yenzeka cishe koyedwa ezinganeni ezingama-3600 zesilisa. Ngoba lokhu kuyinkinga ezuzwe njengefa, izingozi zifaka umlando womndeni weDuchenne muscular dystrophy.

Izimpawu zivame ukuvela ngaphambi kweminyaka yobudala engu-6. Zingavela zisencane. Iningi labafana alikhombisi zimpawu eminyakeni embalwa yokuqala yokuphila.

Izimpawu zingafaka:

• Ukukhathala
• Ubunzima bokufunda (i-IQ ingaba ngaphansi kuka-75)
• Ukukhubazeka kwengqondo (kungenzeka, kepha akubi kubi ngokuhamba kwesikhathi)

Ubuthakathaka bemisipha:

• Kuqala emilenzeni nasesinqeni, kepha futhi kwenzeka kancane kakhulu ezingalweni, entanyeni, nakwezinye izindawo zomzimba
• Izinkinga ngamakhono emoto (ukugijima, ukugxuma, ukugxuma)
• Ukuwa njalo
• Inkinga yokuvuka endaweni elele noma izitebhisi zokukhuphuka
• Ukuphefumula, ukukhathala nokuvuvukala kwezinyawo ngenxa yokwehla kwemisipha yenhliziyo
• Inkinga yokuphefumula ngenxa yokwehla kwemisipha yokuphefumula
• Ukuwohloka kancane kancane kobuthakathaka bemisipha

Ukuhamba ngobunzima okuqhubekayo:

• Amandla okuhamba angalahleka lapho eneminyaka engu-12, futhi ingane kuyodingeka isebenzise isihlalo sabakhubazekile.
• Ubunzima bokuphefumula nesifo senhliziyo kuvame ukuqala ngeminyaka engama-20.

Uhlelo oluphelele lwezinzwa (i-neurological), inhliziyo, amaphaphu, kanye nokuhlolwa kwemisipha kungakhombisa:

• Imisipha yenhliziyo engajwayelekile, egulayo (i-cardiomyopathy) ibonakala ngeminyaka eyi-10.
• Ukwehluleka kwenhliziyo yokuqina noma isigqi senhliziyo esingajwayelekile (arrhythmia) sikhona kubo bonke abantu abane-Duchenne muscular dystrophy eneminyaka engu-18.
• Ukukhubazeka kwesifuba nangemuva (scoliosis).
• Imisipha ekhulisiwe yamathole, izinqe, namahlombe (cishe iminyaka engu-4 noma engu-5). Le misipha ekugcineni ithathelwa indawo izicubu ezinamafutha nezokuxhuma (pseudohypertrophy).
• Ukulahleka kwemisipha (ukumosha).
• Izinkontileka zemisipha ezithendeni, emilenzeni.
• Ukukhubazeka kwemisipha.
• Izinkinga zokuphefumula, kufaka phakathi i-pneumonia nokugwinya ngokudla noma uketshezi oludlulela emaphashini (ebangeni lesifo).

Ukuhlolwa kungafaka:

• I-Electromyography (EMG)
• Ukuhlolwa kofuzo
• Imisipha biopsy
• I-Serum CPK

Alikho ikhambi elaziwayo leDuchenne muscular dystrophy. Ukwelashwa kuhlose ukulawula izimpawu zokuthuthukisa ikhwalithi yempilo.

Izidakamizwa ze-steroid zinganciphisa ukulahleka kwamandla emisipha. Zingaqalwa lapho kutholakala ingane noma lapho amandla emisipha eqala ukuncipha.

Ezinye izindlela zokwelashwa zingafaka:

• I-Albuterol, umuthi osetshenziselwa abantu abane-asthma
• Ama-amino acid
• Izidumbu
• ICoenzyme Q10
• I-Creatine
• Amafutha ezinhlanzi
• Ukukhishwa kwetiye eluhlaza
• Uvithamini E

Kodwa-ke, imiphumela yalezi zindlela zokwelashwa ayikafakazelwa. Ama-stem cell kanye nokwelashwa kofuzo kungasetshenziswa ngokuzayo.

Ukusetshenziswa kwe-steroids nokuntuleka kokuvivinya umzimba kungaholela ekutholeni isisindo ngokweqile. Umsebenzi uyakhuthazwa. Ukungasebenzi (njenge-bedrest) kungenza isifo semisipha sibe sibi kakhulu. Ukwelashwa ngokomzimba kungasiza ekugcineni amandla nokusebenza kwemisipha. Kudingeka ukwelashwa kwenkulumo.

Ezinye izindlela zokwelashwa zingafaka:

• Ukungenisa umoya okusizwayo (okusetshenziswa emini noma ebusuku)
• Izidakamizwa zokusiza ukusebenza kwenhliziyo, njenge-angiotensin eguqula ama-enzyme inhibitors, ama-beta blocker, kanye ne-diuretics
• Izinto zokusebenza ze-Orthopedic (ezinjengezinsimbi zokubopha izihlalo ezinamasondo nezihlalo ezinamasondo) ukwenza ngcono ukuhamba
• Ukuhlinzwa komgogodla ukwelapha i-scoliosis eqhubekayo kwabanye abantu
• I-Proton pump inhibitors (yabantu abane-reflux ye-gastroesophageal)

Izindlela zokwelashwa ezintsha zisafundwa ezivivinyweni.

Unganciphisa ukucindezela kokugula ngokujoyina iqembu lokwesekwa lapho amalungu abelana ngokuhlangenwe nakho okuvamile nezinkinga. I-Muscular Dystrophy Association ingumthombo omuhle kakhulu wolwazi ngalesi sifo.

I-Duchenne muscular dystrophy iholela ekwandeni kokukhubazeka okuqhubekayo. Ukufa kuvame ukwenzeka lapho uneminyaka engama-25, imvamisa kusuka ekuphazamisekeni kwamaphaphu. Kodwa-ke, ukuthuthuka ekunakekelweni okusekelayo kubangele ukuthi amadoda amaningi aphile isikhathi eside.

Izinkinga zingafaka:

• I-Cardiomyopathy (nayo ingenzeka kubathwali besifazane, okufanele nabo bahlolwe)
• Ukwehluleka kwenhliziyo yokuqina (okungajwayelekile)
• Ukukhubazeka
• Ama-arrhythmias enhliziyo (angavamile)
• Ukukhubazeka kwengqondo (kuyahlukahluka, imvamisa kuncane)
• Ukukhubazeka unomphela, okuqhubekayo, kufaka phakathi ukwehla kokuhamba nokwehla kwekhono lokuzinakekela
• I-pneumonia noma ezinye izifo zokuphefumula
• Ukwehluleka kokuphefumula

Shayela umhlinzeki wakho wezempilo uma:

• Ingane yakho inezimpawu zeDuchenne muscular dystrophy.
• Izimpawu ziba zimbi kakhulu, noma kuvela izimpawu ezintsha, ikakhulukazi umkhuhlane onenkinga yokukhwehlela noma yokuphefumula.

Abantu abanomlando womndeni wesifo bangafuna ukululekwa ngofuzo. Izifundo zofuzo ezenziwa ngesikhathi sokukhulelwa zinembe kakhulu ekutholeni i-Duchenne muscular dystrophy.

I-pseudohypertrophic muscular dystrophy; Imisipha dystrophy - uhlobo lweDuchenne

• Ukukhubazeka kwezakhi zofuzo okuxhunywe ku-X - ukuthi abafana bathinteka kanjani
• Iziphazamiso zofuzo ezixhunywe ku-X

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.

Iwebhusayithi yeMuscular Dystrophy Association. www.mda.org/disease/duchenne-muscular-dystrophy. Kufinyelelwe ngo-Okthoba 27, 2019.

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

I-Warner WC, iSawyer JR. Izinkinga ze-Neuromuscular. Ku: Azar FM, Beaty JH, Kanale ST, ama-eds. I-Operational Orthopedics yaseCampbell. Umhlaka 13. IPhiladelphia, PA: Elsevier; 2017: isahluko 35.