Ingabe imisipha yengane yakho iqinile futhi inenkinga yokuvula izingalo zayo? Ake sifunde nge-(Myotonia Congenita)!

Wake waphawula ukuthi ngezinye izikhathi lapho ingane yakho ibamba ithoyizi ngokuqinile, kuthatha isikhathi ukulidedela futhi? Noma ingabe kuvele kuzwakale sengathi iqinile ngenkathi igijima idlala? Kujwayelekile ukuthi umzali azizwe esaba kancane uma ebona izinto ezinjengalezi. Namuhla sizokhuluma ngesimo esingabangela lezi zimpawu, kodwa esingavamile kakhulu.

Iyini i-Myotonia Congenita?

Kalula nje, i-Myotonia Congenita yisimo sofuzo . Kulesi simo, imisipha yethu ayikwazi ukuphumula ngokushesha ngemva kokufinyela. Cabanga ngengane yakho ibambe ibhola lokudlala ngokuqinile esandleni sayo. Ngokuvamile, uma uyitshela ukuthi idedele, izoyidedela ngokushesha. Kodwa ingane enalesi simo inenkinga yokudedela konke ngesikhathi esisodwa. Isandla singase sizizwe siqinile isikhashana.

Lesi simo sivame ukuqala ebuntwaneni noma ebusheni . Ngaphezu kokuqina kwemisipha, kungase kuvele nezinye izimpawu, njenge-muscle hypertrophy, okuwukuvela kwemisipha.

Odokotela bahlukanisa lokhu njengokuthi 'isifo se-myotonia esingeyona i-dystrophic.' Lokho kusho ukuthi akukho monakalo omkhulu esakhiweni semisipha yengane yakho. Iphilile. Kodwa-ke, kunenkinga encane ngenqubo kagesi elawula ukufinyela kwemisipha. Kunezinye izifo ezenzeka nge-myotonia, ezibizwa ngokuthi 'i-dystrophic myotonia.' Kulezi, isakhiwo semisipha siyathinteka.

Kuvamile ukuzizwa ukhathazekile futhi wesaba lapho sibona ushintsho emzimbeni wengane yethu. Kodwa okudingeka ukwazi ukuthi lesi simo, esibizwa ngokuthi i-myotonia congenita , ngokuvamile asibi sibi ngokuhamba kwesikhathi . Ngokwelashwa ngokomzimba kanye nezinye izindlela zokwelapha, lezi zimpawu zingaphathwa kahle.

Yiziphi izinhlobo eziyinhloko ze-Myotonia Congenita?

Kunezinhlobo ezimbili eziyinhloko zalesi simo, ake sibone ukuthi ziyini.

1. Isifo sikaBecker

Lolu uhlobo oluvame kakhulu lwe-myotonia congenita. Lungabangela ubuthakathaka bemisipha ezingalweni nasemilenzeni yengane. Izimpawu zesifo sikaBecker zivame ukuvela phakathi kweminyaka engu-4 no-12. Kodwa-ke, lokhu kuhlukile ku-Becker muscular dystrophy, ngakho ungakudidanisi ne-Becker muscular dystrophy.

2. Isifo saseThomsen

Lolu uhlobo olungavamile noluthambile lwe-myotonia congenita. Izimpawu zivame ukuqala ezinyangeni ezimbalwa zokuqala zokuphila futhi zingahlala iminyaka emi-2-3 .

Ivame kangakanani i-Myotonia Congenita?

Empeleni lesi yisimo esingavamile kakhulu.Lesi sifo sithinta cishe umuntu oyedwa kwabayizinkulungwane eziyikhulu. Kodwa-ke, lesi simo sibonakala kaningi kubantu basemazweni aseScandinavia njengeFinland, iNorway, neSweden. Kulawo mazwe, kubikwa ukuthi cishe umuntu oyedwa kwabayizinkulungwane eziyishumi unalesi sifo.

Ziyini izimpawu ze-Myotonia Congenita?

Isici esiyinhloko salesi simo ukuthi imisipha iyashesha ukuphumula ngemva kokuba isinciphile . Lokhu sikubiza ngokuthi i-myotonia. Lesi simo se-myotonia singaba sibi kakhulu uma uqala umsebenzi ngemva kwesikhathi sokuphumula noma endaweni ebandayo.

Ezinye izimpawu ingane yakho engase ibhekane nazo zifaka:

• Ubunzima bokudla, ukuminyana, isicanucanu, kanye nokubuyela emuva – ikakhulukazi ebuntwaneni. Isibonelo, ezinye izingane zingase zizwe sengathi zithola ukudla okuningi emphinjeni wazo ngisho nangemva kokuphuza ubisi oluncane.
• Ukuwa njalo kanye nokuntuleka kokulinganisela (ukungaqondi kahle) - Lokhu kungabonakala ngisho nangemva kokuba usuqalile ukuhamba futhi usujwayele kahle.
• Ukubona kabili noma iso elivilaphayo.
• Imisipha iyakhula (hypertrophy) , okungakwenza ubukeke njengomdlali.
• Ukuqaqamba kwemisipha.
• Ukuqina kwemisipha , ikakhulukazi emilenzeni yengane. Kodwa-ke, lokhu kuqina kungancipha ngokunyakaza kanye nalapho umzimba ufudumala. Lokhu kubizwa ngokuthi 'into yokufudumala' .
• Ubuthakathaka , ikakhulukazi uma ingane yakho inesifo iBecker.
• I-Scoliosis ukugoba okungavamile komgogodla.

Izingane zesilisa zingase zithinteke kakhulu kunezingane zesifazane. Izimpawu zingase zibe zimbi okwesikhashana ngesikhathi sokukhulelwa kanye nokuya esikhathini.

Izimpawu zesifo sikaThomsen zivame ukuqala kusenesikhathi futhi ziqale zithinte ubuso nezandla zengane. Izimpawu zesifo sikaBecker zivame ukuqala kamuva futhi ziqale zithinte imilenze .

Yini ebangela i-Myotonia Congenita?

I-Myotonia I-Congenita ibangelwa ukuguquka kwezakhi zofuzo i-CLCN1 . Lesi sakhi sofuzo sithinta iziteshi ze-chloride esikhumbeni semisipha yemisipha yethu. Yingakho imisipha iba nenkinga yokuphumula ngemva kokuba isinciphile.

Isifo i-Becker (BD) sizuzwa njengefa ngendlela yokubuyisa izakhi zofuzo . Lokhu kusho ukuthi bobabili abazali bengane kumele bathwale ukuguquka kwezakhi zofuzo, futhi bobabili kumele bakudlulisele enganeni. Kodwa-ke, labo bazali ababonisi zimpawu. Bamane nje bangabathwali bezakhi zofuzo.

Iyini isifo sikaThomsen (TD)?Isimo esilawulayo se-autosomal. Kulesi simo, noma ngabe umzali oyedwa kuphela webhayoloji onokwehluka kwezakhi zofuzo, ingane ingakuthola njengefa.

Itholakala kanjani i-Myotonia Congenita?

Odokotela bavame ukuxilonga lesi simo besebancane. Udokotela wakho uzobuza ngezimpawu zengane yakho kanye nomlando wezokwelapha womndeni wakho. Bese benza izivivinyo ezithile ukuze bahlole izinkinga ngezinsini. Lokhu kungafaka:

• Ukutshela ingane ukuthi ivule futhi ivale amehlo ayo ngokushesha .
• Ukubona ukuthi ingane ingabamba into ethile ngokushesha esandleni sayo bese iyidedela, noma ukuthi ingavula isandla sayo ngokushesha ngokuyicindezela .
• Thinta kancane inyama yengane ngesando esincane (i-percussor) ukuze ubone ukuthi iyaqina yini.

Udokotela wakho angase futhi ancome ezinye izivivinyo eziningana ukuqinisekisa ukuxilongwa noma ukuqeda ezinye izimo ezibangela izimpawu ezifanayo. Lezi zivivinyo zifaka:

• Ukuhlolwa kwegazi kwe-Creatine Kinase (CK): Amazinga e-CK angase akhuphuke ku-myotonia congenita.
• I-Electromyography (EMG): Lokhu kuhlolwa kulinganisa ukushukuma kukagesi okuvela emisipheni. Lokhu kungasiza ukuhlukanisa phakathi kwezifo ezihlobene nemisipha kanye nezinkinga ezihlobene nemizwa. Kodwa-ke, kunzima ukubona umehluko phakathi kwezinhlobo ezimbili ze-myotonia congenita ngokusekelwe emiphumeleni ye-EMG.
• Ukuhlolwa kofuzo: Lokhu kubheka izinguquko zofuzo ezibangela i-myotonia congenita.
• Ukuhlolwa kwemisipha: Ukuhlolwa kwemisipha okwenziwa ku-myotonia congenita kuvame ukubukeka kujwayelekile, kodwa ngezinye izikhathi kungabonakala izinto ezincane ezingajwayelekile.

Yiziphi izindlela zokwelapha i-Myotonia Congenita?

Akukho ukwelashwa kwalesi simo. Ingane yakho ingase ingadingi ukwelashwa okukhethekile. Ukuphumula nokuzivocavoca okulula kungasiza ekunciphiseni ukuqina kwemisipha. Udokotela wakho angase futhi ancome ukwelashwa ngokomzimba ukuze kusize ukugcina ukusebenza kwemisipha.

Kwezinye izimo, ingane yakho ingazuza ngemithi. Udokotela wakho angase akunike imithi efana ne -mexiletine noma i-ranolazine ukunciphisa ukuvama kanye nobukhali bokuxhuzula. Eminye imithi efana ne -lamotrigine kanye ne-carbamazepine nayo ingasiza, kodwa ngezinye izikhathi ingabangela imiphumela emibi engathandeki.

Nazi ezinye izinto wena, ingane yakho, nomndeni wakho eningazenza ukuze niphathe izimpawu ze-myotonia congenita futhi nigweme izimbangela:

• Ukuzigcina kude nezindawo ezibandayo.
• Ukuzibandakanya emsebenzini womzimba ojwayelekile– Izimpawu zingase zinyamalale lapho inyama yengane ifudumala kancane (lokhu kubizwa ngokuthi 'into yokufudumala').
• Ukulawula ukucindezeleka.
• Uma kudingeka, shintsha ukudla ; ​​lokhu kusho ukunika ingane ukudla okulula ukugwinya ukuze kuncishiswe ingozi yokuminza. Isibonelo, uma inenkinga yokudla ukudla okuqinile, ingachotshozwa futhi ithambe.

Ingabe i-Myotonia Congenita ingavinjelwa?

I-Myotonia Congenita ibangelwa ukuguquka kwezakhi zofuzo, ngakho-ke akukho ongakwenza ukuyivimbela . Uma othile emndenini wakho enalesi simo, noma uma wena unaso futhi uhlela ukuba nezingane, kuwumqondo omuhle ukubona umeluleki wezakhi zofuzo . Angakufundisa ngengozi yokudlulisela lesi simo ezinganeni zakho.

Liyini ikusasa lomuntu one-Myotonia Congenita? (Isibikezelo)

I-Myotonia Congenita ngokuvamile ayibi yimbi ngokuhamba kwesikhathi . Izimpawu zengane yakho zizohlala zifana kakhulu kukho konke ukuphila kwayo. Ukwelashwa ngokomzimba nokugwema izinto ezenza izimpawu zibe zimbi kakhulu kungasiza ingane yakho ukuthi ihlale imatasa futhi iqhubeke nemisebenzi evamile. Abantu abane-myotonia congenita bangahlanganyela kwezemidlalo futhi baphile impilo evamile. Esifweni i-Becker, ingane ingase ibe nobuthakathaka obuthile njengoba ikhula.

Ingakanani iminyaka yokuphila komuntu one-Myotonia Congenita?

Abantu abane-Myotonia Congenita baphila impilo evamile . Lesi simo asithinti ezinye izinhlelo zomzimba.

Ingane yami kufanele imbone nini udokotela?

I-Myotonia Congenita yisimo sesikhathi eside . Nakuba ngokuvamile singabi sibi noma sishintshe, ingane yakho kuzodingeka ibone udokotela wayo njalo uma ithatha imithi yayo. Izidingo zokwelapha ngokomzimba zingashintsha njengoba ingane yakho ikhula.

Okubalulekile, i-myotonia congenita ingathinta indlela ingane yakho esabela ngayo ekubulaweni yizinzwa . Ngakho-ke, uma ingane yakho ihlelelwe ukuhlinzwa, kufanele utshele udokotela wakho ngakho. Kufanele futhi wazise udokotela wezinzwa ozonakekela ingane yakho ngesikhathi sokuhlinzwa.

"Kuyinto evamile ukuzizwa ushaqekile kakhulu lapho imisipha yengane yakho ingasebenzi kahle. Ungase ukhathazeke ngokuthi lokhu kuzoba kubi kangakanani, nokuthi kuzothinta kanjani impilo yengane yakho kanye neyomndeni wakho. Kodwa izindaba ezinhle ukuthi i-myotonia congenita ingaphathwa kahle ngokwelashwa ngokomzimba kanye nezinguquko ezincane ongazenza ekhaya nasempilweni yakho yansuku zonke. Khumbula, udokotela wakho uhlala ekhona ukukusiza ngezinkinga zakho futhi aphendule noma yimiphi imibuzo ongase ube nayo."

Izinto ezibaluleke kakhulu okudingeka sizikhumbule kule ndaba (Umyalezo Ohamba Nawo Ekhaya)

Kulungile, ake sibheke izinto ezilula okufanele sizikhumbule nge-myotonia congenita esikhulume ngayo:

• Lesi yisimo esingavamile sofuzo . Isici esiyinhloko ukuthi uma imisipha isifinyela, iba nobunzima bokuphumula ngokushesha.
• Kunezinhlobo ezimbili zesifo sikaBecker: isifo sikaBecker nesifo sikaThomsen.
• Lokhu ngokuvamile akubi kubi ngokuhamba kwesikhathi .
• Nakuba kungekho ikhambi elithile, izimpawu zingalawulwa kahle ngokwelashwa ngokomzimba, imithi ethile, kanye nokushintsha indlela yokuphila .
• Ingane ingaphila impilo evamile futhi idlale imidlalo .
• Uma ingane yakho idinga ukuhlinzwa, kudingeka uqaphele kakhulu nge-anesthesia .
• Ungesabi ukubuza ngalokhu. Khuluma nodokotela wakho uthole iseluleko nokusekelwa okudingayo . Khumbula ukuthi awuwedwa.

I- Myotonia Congenita, I-Myotonia Congenita, Izifo Zofuzo, Ukuqina Kwemisipha, Izifo Zezingane, Isifo SikaBecker, Isifo SikaThomson