Ingaba izihlunu zakho ziya zisiba buthathaka? Oku kusenokuba yi-myotonic dystrophy!

Ngaba wakha waziva ngathi amalungu akho aqinileyo ngaphambili aya eba ndindisholo okanye ebuthathaka kancinci kancinci? Okanye ngaba ngamanye amaxesha ufumana kunzima ukuvula isandla sakho xa ubambe into ngokuqinileyo? Ezi zizinto ngamanye amaxesha esingazinaki kangako, kodwa zinokuba ziimpawu zesifo esibizwa ngokuba yiMyotonic Dystrophy . Makhe sithethe ngale nto ngokweenkcukacha nangokulula namhlanje.

Yintoni iMyotonic Dystrophy?

Ngamafutshane, iMyotonic Dystrophy (DM) yimeko enzima yemfuza. Eyona nto iphambili koku kukuba izihlunu zomzimba wethu ziyaphela kancinci kancinci kwaye zibe buthathaka. Izihlunu zabantu abanesi sifo zisenokungaphumli kwangoko emva kokusetyenziswa, kodwa zisenokuhlala ziqinile. Oku sikubiza ngokuba yi- myotonia . Kufana nokubamba isitshixo socango ngokuqinileyo kwaye uzama ukusivula kuthatha ixesha.

Iimpawu ze-myotonic dystrophy (DM) zinokuba zibanzi kakhulu. Zinokuchaphazela iinkqubo ezahlukeneyo emzimbeni wethu. Umzekelo:

• Izihlunu zethu zamathambo (izihlunu esizilawula ngabom) kunye nezihlunu zentliziyo.
• Amehlo.
• Inkqubo yentliziyo (inkqubo yokujikeleza kwegazi).
• Inkqubo ye-endocrine (inkqubo yehomoni).
• Inkqubo yemithambo-luvo ephakathi (ingqondo kunye nomqolo).

Ngaba kukho iintlobo ze-myotonic dystrophy?

Ewe, kukho iintlobo ezimbini eziphambili ze-DM:

1. I-Myotonic dystrophy uhlobo 1 (DM1): Oku kukwabizwa ngokuba sisifo sikaSteinert . I-DM1 kwakhona ineentlobo ezine:

• Uhlobo lweklasikhi
• Uhlobo oluthambileyo
• Uhlobo lokuzalwa (olukhoyo ngexesha lokuzalwa)
• Uhlobo lobuntwana

2. I-Myotonic dystrophy uhlobo 2 (DM2): Oku kukwabizwa ngokuba yi -proximal myotonic myopathy .

Iimpawu zeentlobo zombini ngamanye amaxesha zinokufana. Nangona kunjalo, i-DM2 idla ngokuba ncinci kancinci kune-DM1, oko kuthetha ukuba iimpawu azikho nzulu kangako.

Yintoni umahluko phakathi kweMuscular Dystrophy kunye neMyotonic Dystrophy?

Le yinto edida abantu abaninzi. I-Muscular dystrophy liqela lezifo ezizuzwe njengelifa (i-genetic). Eli qela liquka iintlobo ezingaphezu kwama-30 zezifo. Zonke zibangela ubuthathaka bemisipha. Ezi ziwela kudidi lwe- myopathy , oluyisifo semisipha yethu yamathambo. Ekuhambeni kwexesha, izihlunu ziyancipha kwaye zibe buthathaka. Oku kwenza kube nzima ukuhamba nokwenza imisebenzi yemihla ngemihla. Ngamanye amaxesha intliziyo kunye nemiphunga nazo zinokuchaphazeleka.

I-Myotonic DystrophyLuhlobo lwesifo olukwiqela le-muscular dystrophy ekhankanyiweyo ngaphambili. Ingcali kukuba phakathi kwe-muscular dystrophy eqala ebudaleni, le meko ye-myotonic dystrophy yeyona ixhaphakileyo. (Nangona kunjalo, ezinye iintlobo ze-DM zinokuqala nasebuntwaneni okanye ebuntwaneni).

Ngubani onokuhlakulela i-myotonic dystrophy? Ngaba kukho umahluko ngeminyaka?

Iintlobo ezahlukeneyo ze-DM zinokuqala kwiminyaka eyahlukeneyo. Makhe sibone ukuba njani:

• Uhlobo lwe-myotonic dystrophy oluqhelekileyo 1 (i-Classic DM1): Oku kudla ngokuqala ngeminyaka yoo-20, yoo-30, okanye yoo-40.
• Uhlobo 1 lwe-myotonic dystrophy oluphantsi (i-DM1 ebuthathaka): Oku kunokuchaphazela abantu abaphakathi kweminyaka engama-20 ukuya kwengama-70, kodwa kuxhaphake kakhulu emva kweminyaka engama-40.
• Uhlobo 1 lwe-Congenital myotonic dystrophy (Congenital DM1): Njengoko igama elithi "congenital" lisitsho, olu luhlobo oluchaphazela iintsana. Oku kuthetha ukuba lukhona ukususela ekuzalweni.
• Uhlobo 1 lwe-myotonic dystrophy yobuntwana (Childhood DM1): Oku kudla ngokuqala malunga neminyaka eli-10 ubudala.
• Uhlobo lwe-Myotonic dystrophy 2 (DM2): Oku kuqala nakubantu abadala. Iimpawu zihlala ziqala malunga neminyaka engama-48 ubudala.

Ixhaphake kangakanani le sifo?

I-Myotonic dystrophy (DM) ichaphazela ubuncinane umntu omnye kwabayi-8,000 kwihlabathi liphela. Nangona kunjalo, eli nani linokwahluka ngokwendawo kunye nohlanga. I-DM lolona hlobo luqhelekileyo lwe-muscular dystrophy phakathi kwabantu abazalwa eYurophu.

Kwinkoliso yabemi, uhlobo lwe-DM 1 (DM1) luxhaphake kakhulu kune-DM 2 (DM2).

Ziziphi iimpawu zeMyotonic Dystrophy?

Ezi zezona mpawu ziphambili ze-DM. Ziya zisiba mandundu kancinci kancinci ngokuhamba kwexesha, nto leyo ethetha ukuba ziya ziba mandundu ngakumbi:

• Ukuwohloka kwemisipha: Ukuphelelwa ngamandla kwemisipha.
• Ubuthathaka bemisipha: Ukuncipha kwamandla emisipha.
• I-Myotonia: Sikhe sathetha ngale nto ngaphambili. Ukungakwazi ukuphumza izihlunu ngabom. Umzekelo, xa umntu one-DM ebambe isitshixo socango, kunokuba nzima kancinci ukumyeka.

Nangona kunjalo, ngenxa yokuba i-DM ichaphazela amalungu ahlukeneyo omzimba, ezinye iimpawu ezahlukeneyo zinokwenzeka. Ubunzima bezi mpawu kunye nesantya ezikhula ngaso ziyahluka ngokuxhomekeke kuhlobo lwe-DM.

Iimpawu zeClassic Myotonic Dystrophy Type 1

Iimpawu zolu hlobo ziqala xa umntu emdala. I-Myotonia luphawu oluphambili oluqala ukubonakala. Oku kubonakala ngakumbi emva kokuphumla kwaye kunokuncipha kancinci emva kokusebenza kwemisipha.

Ezinye iimpawu zezi:

• Ubuthathaka bemisipha ekude:Oku kuthetha ukuba izihlunu ezikude nombindi womzimba (umz., izihlunu ezingalweni nasemilenzeni) ziba buthathaka. Oku kwenza kube nzima ukwenza imisebenzi ebuthathaka ngezandla (umz., ukucinezela amaqhosha, ukubhala). Kukwenza kube nzima nokuhamba ngenxa yemeko ebizwa ngokuba kukuhla kweenyawo (ngokungathi umzantsi wonyawo urhuqa emhlabeni).
• Ubuso obuncinci, obutsolo (ubuso obungenamyopathic) ngenxa yokuwohloka kwemisipha yobuso.
• Ukungahambi kakuhle kokuqhuba kwentliziyo .

Iimpawu zeCongenital Myotonic Dystrophy Type 1

Ngenxa yokuba olu hlobo lukhona ekuzalweni, umntwana usenokubonisa iimpawu ezithile ngoxa esesesibelekweni:

• Ukuncipha kwentshukumo yomntwana ongekazalwa esibelekweni.
• I-Polyhydramnios sisixa esigqithisileyo se-amniotic fluid esijikeleze umntwana ongekazalwa ngexesha lokukhulelwa.
• Unyawo olugobileyo ( unyawo lujike ngaphakathi).
• I-Ventriculomegaly (ukwanda kwee-ventricles zobuchopho) (ngenxa yokuqokelelwa kolwelo lwe-cerebrospinal).

Iimpawu ezibonakala kubantwana nakubantu abadala emva kokuzalwa:

• Umlebe ongasentla ufana nentente ngenxa yobuthathaka bemisipha yobuso.
• Intetho engacacanga (iDysarthria) .
• Ukukhubazeka kwengqondo.
• Endaweni ye-myotonia, kukho ithoni yemisipha ehlileyo (iHypotonia) .

Iimpawu ze-Mild Myotonic Dystrophy Type 1

Iimpawu zolu hlobo zihlala ziqala phakathi kweminyaka engama-20 ukuya kwengama-70 ubudala. Ziquka:

• Ubuthathaka obuncinci bemisipha.
• I-Myotonia (i-Myotonia).
• IiCataracts .

Iimpawu zoBuntwana beMyotonic Dystrophy Uhlobo 1

Iimpawu zolu hlobo zihlala ziqala malunga neminyaka eli-10 ubudala. Ziquka:

• Ubunzima bokufunda kunye neengxaki zengqondo (umz. iingxaki zosapho, ukudakumba, ixhala).
• Intetho engacacanga.
• I-Myotonia yemisipha yezandla.
• Ukungahambi kakuhle kokuqhuba kwentliziyo .

Iimpawu zeMyotonic Dystrophy Type 2

Iimpawu ze-type 2 DM zihlala ziqala xa umntu emdala kwaye zinokuhluka.

Iimpawu zingabandakanya:

• Ubuthathaka okanye ukuxinana kwemisipha kufutshane nombindi womzimba (umz., izihlunu ezijikeleze izinqe namagxa).
• Intlungu kwizihlunu nakwizicwili ezidityanisiweyo (Intlungu yeMyofascial) .
• Ukuqala kwangoko kwe-cataracts (ngaphambi kweminyaka engama-50).
• I-myotonia yamanqanaba ahlukeneyo yenzeka xa ubamba into ngesandla.
• Ukuphazamiseka kokuva.

Intlungu sisifo esibuhlungu kakhulu kubantu abane-DM2. Aba bantu baxela intlungu esiswini, kwimisipha yamathambo, nangexesha lokuzilolonga.

Yintoni ebangela iMyotonic Dystrophy?

I-Myotonic dystrophy (DM) sisifo semfuza , oko kuthetha ukuba sidluliselwa kubazali ukuya ebantwaneni ngeemfuza.

Uhlobo lwe-DM 1 (DM1) lubangelwa ziinguqu (utshintsho) kwijini ebizwa ngokuba yi-DMPK . Uhlobo lwe-DM 2 (DM2) lubangelwa ziinguqu kwijini ebizwa ngokuba yi-CNBP .

Utshintsho olufanayo kwisakhiwo seejini zombini, i-DMPK kunye ne-CNBP, zezona zibangela i-DM1 kunye ne-DM2. Kwimeko nganye, icandelo le-DNA liphindaphindwa amaxesha amaninzi ngendlela engaqhelekanga. Oku kudala indawo engaqinisekanga kwijini. Okukhona eli candelo le-DNA liphindaphindwa ngokungaqhelekanga, kokukhona iimpawu ze-DM ziba nzima ngakumbi.

Ubungqina besayensi bubonisa ukuba i -RNA egqithisileyo ye-messenger eveliswa zezi DNA repeats ezingaqhelekanga iyingozi. Oku kuphazamisa ukuveliswa kweeproteni ezahlukeneyo kwiiseli, nto leyo ebangela iimpawu ze-myotonic dystrophy kwizitho ezahlukeneyo.

Indlela esi sifo esidluliselwa ngayo kwizizukulwana ngezizukulwana (iMyotonic Dystrophy Inheritance)

Zombini ezi ntlobo ze-DM zizuzwa njengelifa kwipateni ebizwa ngokuba yi-autosomal dominant . Kule pateni, ngumzali omnye kuphela ekufuneka abe ne-gene echaphazelekayo ukuze isifo sidluliselwe emntwaneni. Isiqingatha sabantwana bomzali one-autosomal dominant traits baya kuzuza njengelifa.

Njengoko uhlobo 1 lwe-myotonic dystrophy (DM1) ludluliselwa ukusuka kwesinye isizukulwana ukuya kwesinye, ubudala bokuqala buhlala busiba mncinci kwaye iimpawu ziya zisiba mandundu. Le nto ibizwa ngokuba yi-prediction . Kungathi esi sifo "siyakhawuleza" ukusuka kwesinye isizukulwana ukuya kwesinye.

Ifunyanwa njani iMyotonic Dystrophy? (Ukuxilongwa)

Ukuba uneempawu ze-DM, ugqirha uza kuqala akuhlole aze akubuze malunga noku:

• Imbali yakho yezonyango.
• Imbali yezonyango yosapho, ingakumbi nokuba kukho nabani na kusapho one-DM.
• Iimpawu zakho.

Emva koko, kunokwenziwa uvavanyo lwezonyango ukuqinisekisa ukufunyaniswa kwe-DM.

Luhlobo luni lovavanyo oluqhutywayo?

Uvavanyo lwemfuza lunokuqinisekisa ukufunyaniswa kwe-DM. Olu vavanyo lukhangela utshintsho kwi-gene ye-DMPK (ye-DM1) okanye kwi-gene ye-CNBP (ye-DM2).

Ukuba ugqirha wakho ukrokrela ukuba une-DM okanye esinye isifo, angenza olunye okanye ngaphezulu kwezi vavanyo ngaphambi kokuba akuthumelele uvavanyo lwemfuza:

• Uvavanyo lwegazi lweCreatine kinase: I-Creatine kinase yi-enzyme efumaneka ikakhulu kwimisipha yentliziyo kunye neyamathambo. Xa ezi seli zemisipha zonakele, le enzyme iqokelelana egazini. Abantu abane-DM encinci banokuba neli nqanaba liphezulu kancinci, okanye lisenokuba liqhelekile.
• I-Electromyogram (EMG):Kolu vavanyo, kufakwa i-electrode ebhityileyo efana nenaliti kwimisipha kwaye kulinganiswa umsebenzi wombane weefayibha zemisipha. Abantu abane-DM badla ngokuba nomsebenzi wombane ophezulu nophantsi kwimisipha yabo, nokuba baphumle.
• I-biopsy yemisipha: Kule nto, ugqirha uthatha isampuli encinci yezicubu kwisihlunu sakho aze ayihlole phantsi kwe-microscope ukuze abone ukuba kukho na iimpawu ze-DM.

Ngaba kuza kwenziwa olunye uvavanyo emva kokuba isifo siqinisekisiwe?

Ewe, ukuba ezi mvavanyo ziyaqinisekisa i-DM, ugqirha wakho unokucebisa ezinye iimvavanyo ukujonga ukusebenza kwamalungu athile anokuchaphazeleka yi-DM. Umzekelo:

• Uvavanyo lwe-electrocardiogram (ECG) ukujonga ukusebenza kwentliziyo.
• Uvavanyo lomsebenzi wemiphunga ukujonga iingxaki zokuphefumla zemithambo-luvo.
• Uphononongo lokulala ukuze kuhlolwe ukuba akukho ngxaki yokuphefumla okubangelwa kukungalali kakuhle kunye nokuba nengxaki yokulala emini.

Ngaba kukho unyango lweMyotonic Dystrophy?

Ngelishwa, akukho nyango lwe-myotonic dystrophy (DM). Ke ngoko, iinjongo eziphambili zonyango zezi:

• Ukulawula iimpawu.
• Ukugcina umgangatho wobomi kunye nokuzimela kumgangatho ophezulu.

Ngenxa yokuba i-DM ichaphazela amalungu ahlukeneyo omzimba, unyango lunokwahluka ngokuxhomekeke kwiimpawu zakho. Ezi zingabandakanya:

• Amayeza okunciphisa i-myotonia engapheliyo. Umzekelo, ii-sodium channel blockers ezifana neMexiletine , ii-Tricyclic antidepressants , iiBenzodiazepines , okanye ii-Calcium antagonists .
• Umatshini we-CPAP wokuthintela i-apnea yokulala.
• Izinto ezivuselelayo ezifana ne -methylphenidate ekozeleni kakhulu emini.
• Utyando lwe-cataract lutyando lokususa i-cataract ethintela ukubona.
• Unyango lwesifo seswekile. Oku kungadinga iipilisi kunye/okanye i-insulin . Abantu abane-DM basengozini enkulu yokuba nesifo seswekile ngenxa yokunganyamezelani ne-insulin .
• Unyango lwe-testosterone kwi -hypogonadism yamadoda . Amadoda ane-DM1 adla ngokuba namanqanaba aphantsi e-testosterone kunye nokungasebenzi kakuhle kwe-erectile .

Unyango lomzimba kunye nonyango lomsebenzi ziindlela ezibalulekileyo zonyango zokwandisa ukuzimela kwabantu abane-DM. Zinokukunceda uqinise izihlunu zakho kwaye ufunde iindlela ezintsha zokwenza imisebenzi yemihla ngemihla. Ungagcina ukuzimela ngokusebenzisa izixhobo zokuncedisa (umz., izixhasi, iintonga, izitulo ezinamavili).

I-Speech-language pathology (SLP) inokunceda kwiingxaki zokuginya (Dysphagia) kunye nentetho engacacanga (Dysarthria) .

Ngaba uphuhliso lwe-myotonic dystrophy lunokuthintelwa?

Ekubeni i-DM sisifo esidluliselwa ngelifa, akukho nto unokuyenza ukuyithintela.

Ngaphambi kokuba ube nomntwana, ukuba ukhathazekile ngomngcipheko wokudlulisela i-DM okanye ezinye iimeko zemfuza kubantwana bakho, thetha nogqirha wakho malunga neengcebiso zemfuza .

Ithini ingqikelelo yesi sifo?

Imbonakalo ye-myotonic dystrophy (DM) ixhomekeke kuhlobo lwesifo kunye nobudala apho iimpawu ziqala khona. Ngokubanzi, ukuba iimpawu ziqala ebudaleni, isiphumo sisenokungabi sihle kwaye ixesha lokuphila linokuncipha.

Malunga nama-50% abantu abane-DM1 baya kuyidinga isihlalo sabakhubazekileyo ukuze bahambehamba ngaphambi kokuba bafe. Abantu abane-DM2 abadli ngokufuna izixhobo zokuncedisa kuba iimpawu zabo azibalulekanga kangako.

Ingakanani iminyaka yobomi bomntu oneMyotonic Dystrophy?

Umyinge wobomi bomntu one-DM uyahluka ngokuxhomekeke kuhlobo lwesifo.

• Phakathi kweentsana ezine-DM1 yokuzalwa, izinga lokufa kweentsana ezisandul’ ukuzalwa limalunga ne-18%. Malunga nama-25% abo bane-DM1 yokuzalwa bafa ngaphambi kokuba babe neenyanga ezili-18 ubudala, kwaye malunga nama-50% bafa ngaphambi kokuba babe neminyaka engama-30 ubudala.
• Abantu abane-DM1 engephi badla ngokuphila ubomi obuqhelekileyo.
• Abantu abane-Classic DM1 baphila ubomi obufutshane kunabantu ngokubanzi.

Ngaba iMyotonic Dystrophy ingabulala?

Ewe, i-myotonic dystrophy (DM) inokubulala. Nangona kunjalo, ubudala bokufa buyahluka ngokuxhomekeke kuhlobo lwesifo. Isizathu esiphambili sokufa kwi-DM kukusilela kokuphefumla okunxulumene ne-neuromuscular . Iingxaki zentliziyo nazo zinokuba ngunobangela wokufa.

Ufanele uye nini kugqirha malunga ne-myotonic dystrophy?

Ukuba uneempawu ze-DM, ezinje ngobuthathaka bemisipha kunye ne-myotonia, qiniseka ukuba ubona ugqirha.

Ukuba une-DM, kufuneka udibane neqela lakho lezonyango rhoqo ukuqinisekisa ukuba isicwangciso sakho sonyango sisebenza kakuhle.

Xa wena okanye umntwana wakho nifumana uxilongo olutsha, kunokuba nzima ukumelana nalo. Kodwa khumbula, ayinguye wonke umntu one-myotonic dystrophy (DM) ochaphazeleka ngendlela efanayo. Eyona nto ingcono onokuyenza kukuthetha nengcali ephanda kwaye inyange i-DM. Banokukuxelela ngeendlela zonyango kwaye baphendule nayiphi na imibuzo onokuba nayo.

Masikhumbule oko besithetha ngako njengesishwankathelo (Umyalezo Wokubuyela Ekhaya)

• I-Myotonic dystrophy (DM) sisifo semfuza esibangela ubuthathaka bemisipha kunye nokuphelelwa ngamandla.
• I-Myotonia yimeko apho izihlunu zinobunzima bokuphumla emva kokusetyenziswa.
• Kukho iintlobo ezimbini eziphambili ze-DM: i-DM1 kunye ne-DM2 . I-DM1 inezinye iintlobo ezincinci.
• Iimpawu zinokwahluka ngokuxhomekeke kuhlobo lwe-DM kunye nomntu ngamnye.
• Oku kungenxa yotshintsho oluvela kwizakhi zofuzo.
• Esi sifo sichongwa ngovavanyo lwemfuza kunye nezinye iimvavanyo.
• Nangona kungekho nyango lupheleleyo, kukho unyango olunokulawula iimpawu nokuphucula umgangatho wobomi.
• Ukuba unamathandabuzo malunga noku, funa ingcebiso kagqirha ngoko nangoko. Ukufunyanwa kwangoko kubaluleke kakhulu.

Ndiyathemba ukuba olu lwazi luluncedo kuwe. Hlala usempilweni!

I- Myotonic Dystrophy, Ubuthathaka Bemisipha, Izifo Zemfuza, I-Myotonic Dystrophy, Izifo Zemisipha, I-DM, Izifo Ze-Neurological