Ingabe imisipha yakho nayo iya iba buthakathaka? Lokhu kungaba yi-myotonic dystrophy!

Wake wazizwa sengathi izitho zakho eziqinile ngaphambili ziya ngokuya ziba ndikindiki noma zibuthakathaka? Noma ngezinye izikhathi ukuthola kunzima ukuvula isandla sakho uma ubamba into ethile ngokuqinile? Lezi yizinto ngezinye izikhathi esingazinaki kakhulu, kodwa zingaba izimpawu zesimo esibizwa ngokuthi i-Myotonic Dystrophy . Ake sixoxe ngalokhu ngokuningiliziwe nanamuhla.

Kuyini i-Myotonic Dystrophy?

Kalula nje, i-Myotonic Dystrophy (DM) iyisimo esiyinkimbinkimbi sezakhi zofuzo. Into eyinhloko kulokhu ukuthi imisipha emzimbeni wethu iyawohloka kancane kancane futhi ibe buthaka. Imisipha yabantu abanalesi sifo ingase ingaphumuli ngokushesha ngemva kokusebenzisa, kodwa ingase ihlale ifinyeziwe. Lokhu sikubiza ngokuthi i -myotonia . Kufana nokubamba induku yomnyango ngokuqinile bese uzama ukuyivula kuthatha isikhathi.

Izimpawu ze-myotonic dystrophy (DM) zingaba zibanzi kakhulu. Zingathinta izinhlelo eziningana emzimbeni wethu. Isibonelo:

• Imisipha yethu yamathambo (imisipha esiyilawula ngamabomu) kanye nemisipha yenhliziyo.
• Amehlo.
• Uhlelo lwenhliziyo (uhlelo lokujikeleza kwegazi).
• Uhlelo lwe-endocrine (uhlelo lwe-hormone).
• Isistimu yezinzwa ephakathi (ubuchopho nomgogodla).

Ingabe zikhona izinhlobo ze-myotonic dystrophy?

Yebo, kunezinhlobo ezimbili eziyinhloko ze-DM:

1. I-Myotonic dystrophy uhlobo 1 (DM1): Lokhu kubizwa nangokuthi isifo sikaSteinert . I-DM1 futhi inezinhlobo ezine:

• Uhlobo lwakudala
• Uhlobo oluthambile
• Uhlobo lokuzalwa (olukhona lapho kuzalwa)
• Uhlobo lobuntwana

2. I-Myotonic dystrophy uhlobo 2 (DM2): Lokhu kubizwa nangokuthi i-proximal myotonic myopathy .

Izimpawu zazo zombili izinhlobo ngezinye izikhathi zingafana. Kodwa-ke, i-DM2 ivame ukuba mnene kancane kune-DM1, okusho ukuthi izimpawu azinzima kangako.

Uyini umehluko phakathi kwe-Muscular Dystrophy ne-Myotonic Dystrophy?

Lokhu kuyinto edida abantu abaningi. I-Muscular dystrophy yiqembu lezifo ezizuzwe njengefa (ezakhi zofuzo). Leli qembu lihlanganisa izinhlobo ezingaphezu kuka-30 zezifo. Zonke zibangela ubuthakathaka bemisipha. Lezi ziwela esigabeni se- myopathy , okuyisifo semisipha yethu yamathambo. Ngokuhamba kwesikhathi, imisipha iyancipha futhi ibe buthakathaka. Lokhu kwenza kube nzima ukuhamba nokwenza imisebenzi yansuku zonke. Ngezinye izikhathi inhliziyo namaphaphu nakho kungathinteka.

I-Myotonic DystrophyLuhlobo lwesifo oluseqenjini le-muscular dystrophy okukhulunywe ngalo ngaphambili. Okukhethekile ukuthi phakathi kwe-muscular dystrophy eqala lapho umuntu emdala, lesi simo se-myotonic dystrophy yisona esivame kakhulu. (Kodwa-ke, ezinye izinhlobo ze-DM zingaqala nasebuntwaneni noma ebuntwaneni).

Ubani ongaba ne-myotonic dystrophy? Ingabe kukhona umehluko weminyaka?

Izinhlobo ezahlukene ze-DM zingaqala eminyakeni ehlukene. Ake sibone ukuthi kanjani:

• Uhlobo 1 lwe-myotonic dystrophy (i-Classic DM1): Lokhu kuvame ukuqala ngeminyaka yama-20, yama-30, noma yama-40.
• Uhlobo 1 lwe-myotonic dystrophy oluncane (i-DM1 encane): Lokhu kungathinta abantu abaneminyaka ephakathi kuka-20 no-70, kodwa kuvame kakhulu ngemva kweminyaka engu-40.
• I-Congenital myotonic dystrophy uhlobo 1 (Congenital DM1): Njengoba igama elithi "congenital" lisikisela, lolu uhlobo oluthinta izinsana. Lokhu kusho ukuthi lukhona kusukela ekuzalweni.
• Uhlobo 1 lwe-myotonic dystrophy yobuntwana (i-Childhood DM1): Lokhu kuvame ukuqala cishe eminyakeni eyi-10.
• I-Myotonic dystrophy uhlobo 2 (DM2): Lokhu kuqala nasebudaleni. Izimpawu zivame ukuqala cishe eminyakeni engu-48.

Sivame kangakanani lesi sifo?

I-Myotonic dystrophy (DM) ithinta okungenani umuntu oyedwa kwabangu-8,000 emhlabeni jikelele. Kodwa-ke, leli nani lingahluka ngokwendawo kanye nohlanga. I-DM uhlobo oluvame kakhulu lwe-muscular dystrophy kubantu bomdabu waseYurophu.

Eziningi zabantu, uhlobo lwe-DM 1 (DM1) luvame kakhulu kune-DM 2 (DM2).

Ziyini izimpawu ze-Myotonic Dystrophy?

Lezi yizimpawu eziyinhloko ze-DM. Ziya ngokuya ziba zimbi kancane kancane ngokuhamba kwesikhathi, okusho ukuthi ziba zimbi kakhulu:

• Ukuwohloka kwemisipha: Ukulahlekelwa yimisipha.
• Ubuthakathaka bemisipha: Ukuncipha kwamandla emisipha.
• I-Myotonia: Sesikhulume ngalokhu ngaphambili. Ukungakwazi ukukhulula imisipha ngamabomu. Isibonelo, uma umuntu one-DM ebambe insimbi yomnyango, kungaba nzima ukuyidedela.

Kodwa-ke, ngenxa yokuthi i-DM ithinta izingxenye ezahlukene zomzimba, kungase kube nezinye izimpawu ezahlukahlukene. Ubukhali balezi zimpawu kanye nesivinini ezikhula ngaso kuyahlukahluka kuye ngohlobo lwe-DM.

Izimpawu ze-Classic Myotonic Dystrophy Type 1

Izimpawu zalolu hlobo ziqala lapho umuntu esemdala. I -Myotonia uphawu oluyinhloko oluqala ukubonakala. Lokhu kubonakala kakhulu ngemva kokuphumula futhi kungase kwehle kancane ngemva kokusebenza kwemisipha.

Ezinye izimpawu yilezi:

• Ubuthakathaka bemisipha ekude:Lokhu kusho ukuthi imisipha ekude kakhulu nesikhungo somzimba (isib. imisipha ezingalweni nasemilenzeni) iba buthakathaka. Lokhu kwenza kube nzima ukwenza imisebenzi ebucayi ngezandla (isib. ukubhanqa izinkinobho, ukubhala). Kuphinde kube nzima ukuhamba ngenxa yesimo esibizwa ngokuthi ukuwa kwezinyawo (njengokungathi phansi konyawo kuhudula phansi).
• Ukuncipha kwemisipha yobuso kubangela ukuthi ubuso bube nesimo esincane nesiqondile (ubuso obungenasici) .
• Ukuphazamiseka kokujikeleza kwenhliziyo .

Izimpawu ze-Congenital Myotonic Dystrophy Type 1

Ngenxa yokuthi lolu hlobo lukhona lapho kuzalwa, umntwana angabonisa izimpawu ezithile esesesibelethweni:

• Ukuncipha kokunyakaza kwengane esibelethweni.
• I-Polyhydramnios iyinani elikhulu kakhulu le-amniotic fluid elizungeze umbungu ngesikhathi sokukhulelwa.
• Unyawo lwe-Club ( unyawo luphendukele ngaphakathi).
• I-Ventriculomegaly (ukwanda kwama-ventricle obuchopho) (ngenxa yokuqongelela koketshezi lomgogodla).

Izimpawu ezibonakala ezinganeni nakubantu abadala ngemva kokuzalwa:

• Udebe olungaphezulu lubukeka njengetende ngenxa yobuthakathaka bemisipha yobuso.
• Inkulumo engacacile (i-Dysarthria) .
• Ukukhubazeka kwengqondo.
• Esikhundleni se-myotonia, kukhona ukwehla kwethoni yemisipha (i-Hypotonia) .

Izimpawu ze-Myotonic Dystrophy Encane Uhlobo 1

Izimpawu zalolu hlobo zivame ukuqala phakathi kweminyaka engama-20 nengama-70. Zihlanganisa:

• Ubuthakathaka bemisipha obuncane.
• I-Myotonia (i-Myotonia).
• Ama-cataract .

Izimpawu Zokukhubazeka Kwe-Myotonic Yobuntwana Uhlobo 1

Izimpawu zalolu hlobo zivame ukuqala cishe eminyakeni eyi-10. Zihlanganisa:

• Ubunzima bokufunda nezinkinga zengqondo (isib. izinkinga zomndeni, ukucindezeleka, ukukhathazeka).
• Inkulumo engaqondakali.
• I-myotonia yemisipha yezandla.
• Ukuphazamiseka kokujikeleza kwenhliziyo .

Izimpawu ze-Myotonic Dystrophy Uhlobo 2

Izimpawu zesifo sohlobo lwesibili lwe-DM zivame ukuqala lapho umuntu esemdala futhi zingahluka.

Izimpawu zingafaka:

• Ubuthakathaka noma ukuqina kwemisipha eduze nesikhungo somzimba (isib., imisipha ezungeze izinqe namahlombe).
• Ubuhlungu be-myofascial (ubuhlungu emisipheni nasezicutshini ezixhumeneyo) .
• Ukuqala kwamakhatathi ekuqaleni (ngaphambi kweminyaka engama-50).
• I-myotonia yamazinga ahlukahlukene yenzeka lapho ubamba into ngesandla.
• Ukukhubazeka kokuzwa.

Ubuhlungu buyinkinga enkulu kubantu abane-DM2. Laba bantu babika ubuhlungu esiswini, emisipheni yamathambo, kanye nangesikhathi sokuzivocavoca.

Yini ebangela i-Myotonic Dystrophy?

I-Myotonic dystrophy (DM) yisifo esidluliselwa ngofuzo , okusho ukuthi sidluliselwa kusuka kubazali kuya ezinganeni ngokusebenzisa izakhi zofuzo.

Uhlobo lwe-DM 1 (DM1) lubangelwa izinguquko (izinguquko) ku-gene ebizwa ngokuthi i-DMPK . Uhlobo lwe-DM 2 (DM2) lubangelwa izinguquko ku-gene ebizwa ngokuthi i-CNBP .

Izinguquko ezifanayo esakhiweni sezakhi zofuzo zombili, i-DMPK kanye ne-CNBP, yizo ezibangela i-DM1 kanye ne-DM2. Esimweni ngasinye, ingxenye ye-DNA iphindaphindwa kaningi ngendlela engavamile. Lokhu kudala indawo engazinzile esakhini sofuzo. Lapho le ngxenye ye-DNA iphindaphindwa kaningi ngendlela engavamile, kulapho izimpawu ze-DM ziba zimbi khona.

Ubufakazi besayensi busikisela ukuthi i-RNA eningi kakhulu ekhiqizwa yilokhu kuphindaphinda kwe-DNA okungavamile inobuthi. Lokhu kuphazamisa ukukhiqizwa kwamaprotheni ahlukahlukene emaseli, okuyikho okubangela izimpawu ze-myotonic dystrophy ezithweni ezahlukahlukene.

Indlela lesi sifo esidluliselwa ngayo isizukulwane ngesizukulwane (iMyotonic Dystrophy Inheritance)

Zombili izinhlobo ze-DM zizuzwa njengefa ngendlela ebizwa ngokuthi i-autosomal dominant . Kuleli phethini, umzali oyedwa kuphela okudingeka abe ne-gene ethintekile ukuze lesi sifo sidluliselwe enganeni. Ingxenye yezingane zomzali one-autosomal dominant character izozuza leso sici njengefa.

Njengoba i-myotonic dystrophy uhlobo 1 (DM1) idluliselwa kusuka kwesinye isizukulwane kuya kwesinye, iminyaka yokuqala ivame ukuba mincane futhi izimpawu ziba zimbi kakhulu. Lesi simo sibizwa ngokuthi ukulindela . Kunjengokungathi lesi sifo "siyashesha" kusuka kwesinye isizukulwane kuya kwesinye.

Itholakala kanjani i-Myotonic Dystrophy? (Ukuxilongwa)

Uma unezimpawu ze-DM, udokotela uzoqala akuhlole bese ekubuza ngalokhu okulandelayo:

• Umlando wakho wezokwelapha.
• Umlando wezokwelapha womndeni, ikakhulukazi noma ngabe kukhona umuntu emndenini one-DM.
• Izimpawu zakho.

Ngemva kwalokho, kungase kwenziwe ezinye izivivinyo zezokwelapha ukuqinisekisa ukutholakala kwe-DM.

Hlobo luni lokuhlolwa okwenziwayo?

Ukuhlolwa kwezakhi zofuzo kungaqinisekisa ukutholakala kwe-DM. Lokhu kuhlolwa kubheka izinguquko ku-DMPK gene (ye-DM1) noma i-CNBP gene (ye-DM2).

Uma udokotela wakho esola ukuthi unesifo i-DM noma esinye isifo, angenza olunye noma ngaphezulu lwalezi zivivinyo ngaphambi kokukudlulisela ekuhlolweni kofuzo:

• Ukuhlolwa kwegazi kwe-Creatine kinase: I-Creatine kinase iyi-enzyme etholakala ikakhulukazi enhliziyweni nasemisipheni yamathambo. Uma lawa maseli emisipha onakele, le enzyme iqoqana egazini. Abantu abane-DM encane bangase babe naleli zinga eliphakeme kancane, noma kungaba yinto evamile.
• I-Electromyogram (EMG):Kulesi sivivinyo, kufakwa i-electrode encane efana nenaliti emisipheni bese kulinganiswa umsebenzi kagesi wezintambo zemisipha. Abantu abane-DM bavame ukuba nomsebenzi kagesi ophezulu nophansi emisipheni yabo, ngisho nalapho bephumule.
• Ukuhlolwa kwemisipha: Kulokhu, udokotela uthatha isampula encane yezicubu emisipheni yakho bese eyihlola ngaphansi kwesibonakhulu ukuze abone ukuthi zikhona yini izimpawu ze-DM.

Ingabe kuzokwenziwa ezinye izivivinyo ngemva kokuqinisekiswa kwesifo?

Yebo, uma lezi zivivinyo ziqinisekisa i-DM, udokotela wakho angase ancome ezinye izivivinyo zokuhlola ukusebenza kwezitho ezithile ezingase zithinteke yi-DM. Isibonelo:

• Ukuhlolwa kwe-electrocardiogram (ECG) ukuhlola ukusebenza kwenhliziyo.
• Ukuhlolwa kokusebenza kwamaphaphu ukuhlola izinkinga zokuphefumula ze-neuromuscular.
• Ucwaningo lokulala ukuze kuhlolwe ukuthi kukhona yini ukuphazamiseka kokuphefumula okubangelwa ubuthongo kanye nokulala ngokweqile emini.

Ingabe ikhona indlela yokwelapha i-Myotonic Dystrophy?

Ngeshwa, alikho ikhambi le-myotonic dystrophy (DM). Ngakho-ke, imigomo eyinhloko yokwelapha yile:

• Ukuphatha izimpawu.
• Ukugcina izinga eliphezulu lempilo kanye nokuzimela.

Ngenxa yokuthi i-DM ithinta izingxenye ezahlukene zomzimba, ukwelashwa kungahluka kuye ngezimpawu zakho. Lokhu kungafaka:

• Imithi yokunciphisa i-myotonia eqhubekayo. Isibonelo, ama-sodium channel blockers afana ne-Mexiletine , ama-Tricyclic antidepressants , ama-Benzodiazepines , noma ama-Calcium antagonists .
• Umshini we-CPAP wokuvimbela i-sleep apnea.
• Izikhuthazi ezifana ne -methylphenidate zokulala ngokweqile emini.
• Ukuhlinzwa kwe-cataract kuwukuhlinzwa kokususa i-cataract evimbela ukubona.
• Ukwelashwa kwesifo sikashukela. Lokhu kungadinga amaphilisi kanye/noma i-insulin . Abantu abane-DM basengozini enkulu yokuthola isifo sikashukela ngenxa yokumelana ne-insulin .
• Ukwelashwa kwe-testosterone kwe -hypogonadism yabesilisa . Amadoda ane-DM1 avame ukuba namazinga aphansi e-testosterone kanye nokungasebenzi kahle kokuchama .

Ukwelashwa ngokomzimba kanye nokwelashwa ngokomsebenzi kuyizindlela ezibalulekile zokwelapha abantu abane-DM ukuze bazimele kakhulu. Zingakusiza ukuqinisa imisipha yakho futhi ufunde izindlela ezintsha zokwenza imisebenzi yansuku zonke. Ungalondoloza futhi ukuzimela ngokusebenzisa amadivayisi okusiza (isib., izinsimbi zokubopha, izindondolo, izihlalo zabakhubazekile).

I-Speech-language pathology (SLP) ingasiza ngobunzima bokugwinya (Dysphagia) kanye nenkulumo engacacile (Dysarthria) .

Ingabe ukuthuthukiswa kwe-myotonic dystrophy kungavinjelwa?

Njengoba i-DM iyisifo esidluliselwa ngofuzo, akukho ongakwenza ukuze usivimbele.

Ngaphambi kokuba ube nengane, uma ukhathazekile ngengozi yokudlulisela i-DM noma ezinye izimo zofuzo ezinganeni zakho, khuluma nodokotela wakho mayelana nokwelulekwa ngofuzo .

Iyini i-prognosis ngalesi sifo?

Umbono we-myotonic dystrophy (DM) uncike ohlotsheni lwesifo kanye nobudala lapho izimpawu ziqala khona. Ngokuvamile, uma izimpawu ziqala ebudaleni, umphumela ungase ungabi muhle futhi isikhathi sokuphila singancipha.

Abantu abangaba ngu-50% abane-DM1 bazodinga isihlalo sabakhubazekile ukuze bahambe ngaphambi kokuba bafe. Abantu abane-DM2 ngokuvamile abadingi amadivayisi okusiza ukuze bahambe ngoba izimpawu zabo zincane.

Ingakanani iminyaka yokuphila komuntu one-Myotonic Dystrophy?

Isilinganiso sokuphila komuntu one-DM siyahlukahluka kuye ngohlobo lwesifo.

• Phakathi kwezinsana ezine-DM1 yokuzalwa, izinga lokufa kwezinsana licishe libe ngu-18%. Cishe ama-25% alabo abane-DM1 yokuzalwa bafa ngaphambi kwezinyanga ezingu-18 ubudala, kanti cishe ama-50% afa ngaphambi kweminyaka engu-30.
• Abantu abane-DM1 encane bavame ukuphila impilo evamile.
• Abantu abane-Classic DM1 baphila isikhathi esifushane kunesomphakathi jikelele.

Ingabe i-Myotonic Dystrophy ingaba yingozi?

Yebo, i-myotonic dystrophy (DM) ingaba yingozi. Kodwa-ke, iminyaka lapho ukufa kwenzeka khona iyahlukahluka kuye ngohlobo lwesifo. Imbangela ehamba phambili yokufa ku-DM ukwehluleka kokuphefumula okuhlobene nemisipha . Izinkinga zenhliziyo nemithambo yegazi nazo zingaba imbangela yokufa.

Kufanele ubonane nini nodokotela mayelana ne-myotonic dystrophy?

Uma unezimpawu ze-DM, njengobuthakathaka bemisipha kanye ne-myotonia, qiniseka ukuthi ubona udokotela.

Uma une-DM, kufanele uhlangane nethimba lakho lezokwelapha njalo ukuqinisekisa ukuthi uhlelo lwakho lwamanje lokwelashwa lusebenza kahle.

Uma wena noma ingane yakho nithola ukuxilongwa okusha, kungaba nzima ukubhekana nakho. Kodwa khumbula, akuwona wonke umuntu one-myotonic dystrophy (DM) othinteka ngendlela efanayo. Into engcono kakhulu ongayenza ukukhuluma nochwepheshe ocwaninga futhi elapha i-DM. Bangakutshela ngezinketho zokwelapha futhi baphendule noma yimiphi imibuzo ongase ube nayo.

Masikhumbule lokho esikhulume ngakho njengesifinyezo (Umyalezo Wokuya Ekhaya)

• I-Myotonic dystrophy (DM) yisifo esibangelwa izakhi zofuzo esibangela ubuthakathaka bemisipha kanye nokuncipha kwamandla.
• I-Myotonia yisimo lapho imisipha iba nobunzima bokuphumula ngemva kokusebenzisa.
• Kunezinhlobo ezimbili eziyinhloko ze-DM: i-DM1 kanye ne-DM2 . I-DM1 inezinye izinhlobo ezincane.
• Izimpawu zingahluka kuye ngohlobo lwe-DM kanye nomuntu ngamunye.
• Lokhu kungenxa yokuguquka kwezakhi zofuzo.
• Lesi sifo sitholakala ngokuhlolwa kofuzo kanye nezinye izivivinyo.
• Nakuba kungekho ukwelashwa okuphelele, kunezindlela zokwelapha ezingaphatha izimpawu futhi zithuthukise ikhwalithi yokuphila.
• Uma unokungabaza ngalokhu, funa iseluleko sezokwelapha ngokushesha. Ukutholwa kusenesikhathi kubaluleke kakhulu.

Ngiyethemba ukuthi lolu lwazi luwusizo kuwe. Hlala uphilile!

I- Myotonic Dystrophy, Ubuthakathaka Bemisipha, Izifo Zofuzo, I-Myotonic Dystrophy, Izifo Zemisipha, I-DM, Izifo Zezinzwa