Ingabe i-myotonia yenza umzimba wakho uqine? Ake sixoxe ngakho!

Ingabe ngezinye izikhathi uzizwa sengathi ingalo yakho, umlenze, noma yimuphi umsipha emzimbeni wakho uqinile futhi awukwazi ukuphumula ngokushesha njengoba ucabanga? Njengalapho uxhawulana nomuntu futhi kunzima ukudonsa isandla sakho, noma uma uzama ukuvuka esihlalweni, kuthatha isikhathi. Lokhu kumane kungenye yezimpawu zesimo esibizwa ngokuthi i-myotonia. Ungakhathazeki, sizoxoxa ngalokhu ngokuningiliziwe.

Kuyini i-Myotonia?

Kalula nje, i-myotonia yilapho imisipha yakho ingaphumuli ngokushesha ngemva kokuba ifinyele. Cabanga ukuthi uxhawulana nothile, kodwa kunzima ukudonsa isandla sakho, noma uma uhleli phansi uzama ukuvuka, imilenze yakho izizwa iqinile isikhashana. Yileyo into enjalo.

Kunezinhlobo ezahlukene ze-myotonia. Uhlobo ngalunye lubangelwa ushintsho lwezakhi zofuzo . Lokhu kusho ukuthi lubangelwa umphumela othile ezakhiweni zomzimba wethu. Ohlotsheni ngalunye, kuthinteka izakhi zofuzo ezahlukene.

Ngenxa yalezi zinguquko zofuzo, i-myotonia ingathinta ezinye izingxenye zomzimba wakho. Kuye ngohlobo lwe-myotonia onayo, lokhu kungathinta:

• Enhliziyweni
• Emaphashini
• Kuhlelo lokugaya ukudla
• Ebuchosheni
• Kwamehlo

Kungenzeka ezithweni zomzimba ezifana nalezi.

Kuvamile ukuzizwa wesaba uma uzwa uphawu obungenalo ngaphambili, njengokuqina kwemisipha. Ungase uzibuze, "Ingabe lokhu kuzoqhubeka nokuba kubi kakhulu?" noma "Lokhu kuzothinta kanjani impilo yami?" Into engcono kakhulu ongayenza ukubonana nodokotela . I-Myotonia yisimo esingavamile, ngakho kungathatha isikhathi ukuthola ukuxilongwa okunembile. Kodwa okwamanje, udokotela wakho angakusiza ukunciphisa ukwesaba kwakho futhi aphendule imibuzo yakho.

Yiziphi izinhlobo eziyinhloko ze-myotonia?

Odokotela bahlukanisa i-myotonia ngezinhlobo ezimbili eziyinhloko: i-dystrophic kanye ne-non-dystrophic . Zombili lezi zinhlobo zithinta izimpawu zikagesi ezilawula ukufinyela kwemisipha. Kodwa-ke, ku-dystrophic myotonia, imisipha ngokwayo iyalimala. Igama elithi 'dystrophy' lisho 'ukuncipha kancane kancane noma ukulahleka kwezicubu.'

I-Dystrophic Myotonia (DM)

I-Dystrophic Myotonia (DM) yisimo lapho imisipha iba buthaka futhi incipha (atrophy) ngokuhamba kwesikhathi, okuyingxenye yeqembu lezifo ezibizwa ngokuthi i-muscular dystrophy. Kunezinhlobo ezimbili eziyinhloko:

• I-Myotonic Dystrophy uhlobo 1 (DM1) – Lolu uhlobo oluvame kakhulu.
• I-Myotonic Dystrophy uhlobo 2 (DM2)

I-Myotonia engeyona i-dystrophic

Ku-myotonia engeyona i-dystrophic, isakhiwo sezicubu zemisipha asonakali. Ezinye izinhlobo eziwela kulesi sigaba yilezi:

• I-Andersen-Tawil syndrome
• Ukukhubazeka okuvamile kwe-hyperkalemic
• Uhlobo 1 nohlobo 2 lokukhubazeka okuvamile kwe-hypokalemic
• I-Myotonia congenita – Lolu uhlobo oluvame kakhulu kuleli qembu.
• I-Paramyotonia congenita
• I-myotonia yesiteshi se-sodium

Ziyini izimpawu ze-Myotonia?

Uphawu oluyinhloko lwe-myotonia ukungakwazi ukukhulula imisipha uma isinciphile. Lezi zimpawu zingabonakala ebuntwaneni, ebuntwaneni, noma ebudaleni, kuye ngohlobo lwe-myotonia.

Ezinye izimpawu ezivamile ezingabonakala zifaka:

• Ushintsho ekubukekeni kwemisipha yakho - isibonelo, ukukhula kwemisipha (hypertrophy) noma ubuthakathaka bemisipha (hypotonia) .
• Ukukhathala .
• Ubuhlungu bemisipha .
• Ubuthakathaka bemisipha .
• Ukuzwa ukuqina kwemisipha, kodwa ukuqina kwehla ngokunyakaza noma ngokuzivocavoca (isimo sokuzifudumeza) .

Izimpawu ezithile ze-dystrophic myotonia

Uhlobo ngalunye lwe-dystrophic myotonia lunezimpawu ezithile. Ezinye izibonelo yilezi:

• Ubuhlungu besisu, ukuqunjelwa, isifo sohudo, i-acid reflux, ukuqunjelwa.
• Ukungahambi kahle kokubukeka kobuso (ukuguquguquka kobuso) .
• Ama-cataract (ukufiphala kombono weso) .
• I-Hyperglycemia yisimo esibangelwa ukumelana ne-insulin, okubangela amazinga aphezulu kashukela egazini.
• Ukukhubazeka kwengqondo .
• Ukushaya kwenhliziyo okungajwayelekile (i-arrhythmia) noma izinkinga ngezimpawu zikagesi zenhliziyo.
• Ukulahlekelwa izinwele ngaphambili ekhanda kwabesilisa (i-androgenic alopecia) .
• I-apnea yokulala (i-sleep apnea) .

Ziyini izimpawu zabantu abane-Periodic Paralysis?

Unesifo sokukhubazeka okuvamile kwe-hyperkalemic.Uma unaso, ungase ube nesimo esifana nokukhubazeka lapho imisipha yakho ilahlekelwa amandla cishe ihora elilodwa kuya kwamane.

Uma une -hypokalemic periodic paradically paralysis , ungase ube nobuthakathaka bemisipha ebusuku noma ekuseni kakhulu. Lokhu kungahlala kusukela emahoreni ambalwa kuya ezinsukwini ezimbalwa.

Yini ebangela i-myotonia?

I-Myotonia ibangelwa ushintsho oluthile kwenye yezakhi zofuzo zakho. Ukuze kube ngokunembile, lezi zinguquko zezakhi zofuzo zithinta iziteshi ze-ion eziphethe ukulawula ukusebenza kwemisipha yakho.

Uhlobo ngalunye lwe-myotonia lubangelwa ukuguquka kwezakhi zofuzo ezahlukene. Isibonelo, i-myotonic dystrophy uhlobo 1 ibangelwa inkinga yezakhi zofuzo ze-DMPK . I-Myotonia congenita ibangelwa inkinga yezakhi zofuzo ze-CLCN1 . Ungazuza lolu guquko lwezakhi zofuzo komunye wabazali bakho noma bobabili. Noma, lungavela ngokungahleliwe.

Wazi kanjani ukuthi une-myotonia?

Uma uqala inqubo yokuxilonga, udokotela wakho uzokubuza ngezimpawu zakho kanye nomlando wempilo yomndeni . Ngemuva kwalokho, ngaphambi kokusikisela ukuhlolwa kwe-myotonia, uzokhipha ezinye izimo ezivamile ezingaba imbangela yezimpawu zakho, njenge -hypothyroidism .

Lezi yizivivinyo ezisetshenziselwa ukuxilonga i-myotonia:

• Ukuhlolwa Kwegazi Kwe-Creatine Kinase (CK): I-Creatine kinase iyi-enzyme etholakala kakhulu emisipheni. Amazinga e-CK avame ukuphakama ku-myotonia.
• I-Electromyography (EMG): Lokhu kuhlolwa kuhlola impilo kanye nokusebenza kwemisipha yakho yamathambo kanye nezinzwa ezilawulayo.
• Ukuhlolwa kofuzo: Lokhu kuhlolwa kungakhomba izinguquko zofuzo ezibangela izinhlobo ezahlukene ze-myotonia.
• Ukuhlolwa kwegazi le-potassium: Udokotela wakho angasebenzisa lolu vivinyo ukuhlola ukukhubazeka okuvamile kwe-hyperkalemic (i-potassium ephezulu egazini) noma ukukhubazeka okuvamile kwe-hypokalemic (i-potassium ephansi egazini).
• Ukuhlolwa kokuzivocavoca okufushane: Kulolu vivinyo, kufanele ufinyeze imisipha yakho ngezikhathi ezithile ngenkathi udokotela ebheka indlela imizwa nemisipha yakho esabela ngayo.

I-Myotonia yisifo esingavamile,Kungathatha isikhathi ukuthi uthole ukuxilongwa okunembile. Ungakhathazeki ngalokho.

Yiziphi izindlela zokwelapha i-myotonia?

Ukwelashwa kwe-myotonia kuncike ohlotsheni lwakho kanye nezimpawu zakho. Wena nodokotela wakho nizosebenzisana ukuthuthukisa uhlelo lokwelashwa oluhambisana nezidingo zakho. Unganqikazi ukubuza noma yimiphi imibuzo ongase ube nayo.

Ukwelashwa ngokomzimba kuvame ukuba yingxenye yohlelo lwakho lokwelashwa. Uchwepheshe wezokwelapha ngokomzimba angakusiza ugweme izinto ezaziwayo noma ezingaba khona futhi athuthukise uhlelo lokuzivocavoca oluzokusiza ukuthi uhlale usebenza ngangokunokwenzeka. Uchwepheshe wezokwelapha emsebenzini angakusiza futhi uthole izindlela ezintsha zokwenza imisebenzi yansuku zonke. Bangase batuse nezinsiza zokuzivumelanisa nezimo noma zokuhamba.

Ukwelashwa kwe-Dystrophic Myotonia

I-Dystrophic Myotonia iphathwa ngezimpawu. Kuzodingeka ukuthi uhlolwe njalo ukuze uqaphe impilo yezitho ezithintekile uhlobo lwakho lwe-Dystrophic Myotonia.

Umuthi odokotela abawunikeza kakhulu yi- mexiletine . Empeleni umuthi olwa nokushaya kwenhliziyo , kodwa futhi uyasiza ekunyakazeni kwemisipha nokuqina kwayo. I-Mexiletine ingasiza nakwezinye izinhlobo ze-non-dystrophic myotonia.

Ukwelashwa kwe-Non-dystrophic Myotonia

Ngaphezu kwemithi, ukwelashwa kwe-non-dystrophic myotonia kungafaka phakathi ukugwema ezinye izinto ezibangela lokhu. Lokhu kufaka phakathi:

• Ukugwema ukuchayeka emakhazeni.
• Ukunciphisa ukuzivocavoca okunzima nokucindezelayo.

Ukwelashwa Kokukhubazeka Kwesikhathi Esithile

Ukwelashwa kokukhubazeka okuvamile kuvame ukuhilela ukulawula amazinga e-potassium nokugwema izinto ezibangela lokhu. Udokotela wakho angase akuncome ukuthi ugweme okulandelayo:

• Ukuphumula isikhathi eside ngemva kokuzivocavoca.
• Ukudla ukudla okunama-carbohydrate amaningi.
• Ukudla ngezikhathi ezingajwayelekile.
• Ukulala okungajwayelekile.
• Ukusebenza ebusuku.

Uma une -hypokalemic periodic parasis , udokotela wakho angase akuncome ukuthi udle ukudla okucebile nge-potassium, njengobhanana, ubhontshisi, izithelo ezomisiwe, umango, kanye ne-papaya.

Uma une -hyperkalemic periodic parasis , kungadingeka ukuthi ugweme ukudla okune-potassium eningi .

Uma lezi zinyathelo zinganele ukulawula izimpawu zakho, udokotela wakho angase akunike omunye wemithi ebizwa ngokuthi i-dichlorphenamide noma i-acetazolamide .

Ingabe ukuthuthukiswa kwe-myotonia kungavinjelwa?

I-Myotonia ibangelwa izinguquko zofuzo, ngakho-ke akukho ongakwenza ukuyivimbela. Uma othile emndenini wakho ene-myotonia, noma uma nawe unalesi simo, futhi uhlela ukuba nezingane, cabanga ngokubona umeluleki wezakhi zofuzo . Bangachaza ingozi yakho yokuthola lesi simo njengefa bese besidlulisela esizukulwaneni sakho esilandelayo.

Iyini i-prognosis kumuntu one-myotonia? (Isibikezelo)

Uma une-myotonia, indlela obheka ngayo izinto incike ezintweni eziningana. Lezi zihlanganisa:

• Uhlobo lwe-myotonia onayo.
• Ubukhali bezimpawu zakho.
• Indlela umzimba wakho osabela ngayo ekwelashweni.
• Impilo yakho iyonke kanye nobudala bakho.

Udokotela wakho uzokwazi ukukunikeza umbono omuhle wokuthi ikusasa liphetheni ngesimo sakho esithile, kodwa ngokuvamile kufana nalokhu:

• I-non-dystrophic myotonia ngokuvamile inesimo esihle sokubikezela, kodwa lokhu kungahluka kuye ngokuthi izimpawu zakho zibucayi kangakanani.
• Ukubikezela kwe -dystrophic myotonia kuncike ekutheni ezinye izinhlelo zomzimba zithinteka kakhulu kangakanani. Izinhlobo ze-Myotonic dystrophy 1 kanye ne-2 nazo zinganciphisa isikhathi sokuphila.
• Ukukhubazeka ngezikhathi ezithile kungaba kubi kakhulu njengoba ukhula, futhi kungaholela ezinkingeni zemisipha ezingapheli nezinzima (i-myopathy) .

Kufanele ngimbone nini udokotela?

I-Myotonia yisifo esingamahlalakhona/esihlala isikhathi eside. Ngakho-ke, kuzodingeka ubone udokotela impilo yakho yonke ukuze aqaphe izimpawu zakho futhi abone ukuthi ukwelashwa kwakho kusebenza kahle kangakanani.

Okubalulekile, izimo ezihambisana ne-myotonia zingathinta impendulo yakho ekubulaweni yizinzwa . Uma uhlelelwe ukuhlinzwa, kufanele utshele udokotela wakho ngakho. Kufanele futhi utshele udokotela wezinzwa ozokunakekela ngesikhathi sokuhlinzwa.

Kuvamile ukuzizwa ushaqekile futhi unesizungu uma utholakala unesifo esingajwayelekile. I-Myotonia ithinta wonke umuntu ngendlela ehlukile, ngakho-ke ungase ube nemibuzo eminingi. Ithimba lakho lezokwelapha lizoba nawe kulo lonke uhambo lwakho lokuxilongwa nokwelashwa. Thola ukwesekwa kubo, kanye nakubantu obathandayo.

Izinto ezibaluleke kakhulu okudingeka sizikhumbule (Umyalezo Wokuya Ekhaya)

I-Myotonia yisimo lapho imisipha ingaphumuli ngokushesha ngemva kokuba isinciphile. Lokhu kubangelwa izici zofuzo.

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- Kunezinhlobo ezimbili eziyinhloko zalokhu: i-dystrophic (umonakalo esakhiweni semisipha) kanye ne-non-dystrophic (akukho monakalo esakhiweni).

- Izimpawu zingase zihlanganise ukuqina kwemisipha, ubuthakathaka, ubuhlungu, kanye nokukhathala. Ezinye izinhlobo nazo zinezimpawu ezithile.

- Ukuhlolwa kwegazi, i-EMG, kanye nokuhlolwa kofuzo kusetshenziselwa ukuxilonga lesi sifo.

- Ukwelashwa kuyahlukahluka kuye ngohlobo lwesifo kanye nezimpawu. Lokhu kuhlanganisa ukwelashwa ngokomzimba, imithi, kanye nokugwema izinto ezithile (izinto ezibangela).

- Lokhu akunakuvinjelwa, kodwa ungathola usizo ekwelulekweni ngofuzo.

- Uma unalezi zimpawu, qiniseka ukuthi ubona udokotela. Ukuxilongwa okufanele kanye nohlelo lokwelashwa kubaluleke kakhulu kuwe.

I- Myotonia, i-Myotonia, Ukuqina kwemisipha, Izifo zofuzo, i-Dystrophic Myotonia, i-Dystrophic Myotonia, i-Non-dystrophic Myotonia, Izifo zemisipha