Ngaba i-myotonia yenza umzimba wakho uqine? Makhe sithethe ngayo!

Ngaba ngamanye amaxesha uziva ngathi ingalo yakho, umlenze, okanye nayiphi na imisipha emzimbeni wakho iqinile kwaye ayikwazi ukuphumla ngokukhawuleza njengoko ucinga ukuba iza kuphumla? Njengokuba xa uxhawulana nomntu kwaye kunzima ukutsala isandla sakho, okanye xa uzama ukuphakama esitulweni, kuthatha ixesha. Olu lolunye nje lweempawu zesifo esibizwa ngokuba yi-myotonia. Ungakhathazeki, siza kuthetha ngale nto ngokweenkcukacha.

Yintoni iMyotonia?

Ngamafutshane, i-myotonia ibangelwa kukuba izihlunu zakho aziphumli ngokukhawuleza emva kokuba zifinyezelekile. Khawuthelekelele uxhawulana nomntu, kodwa kunzima ukutsala isandla sakho, okanye xa uhleli phantsi uzama ukuphakama, imilenze yakho iziva iqinile okwethutyana. Yiloo nto leyo.

Kukho iintlobo ezahlukeneyo ze-myotonia. Uhlobo ngalunye lubangelwa lutshintsho lwemfuza . Oku kuthetha ukuba lubangelwa yimpembelelo ethile kwiijini emizimbeni yethu. Kuhlobo ngalunye, ijini eyahlukileyo iyachaphazeleka.

Ngenxa yolu tshintsho lwemfuza, i-myotonia inokuchaphazela amanye amalungu omzimba wakho. Ngokuxhomekeke kuhlobo lwe-myotonia onayo, oku kunokuchaphazela:

• Entliziyweni
• Ukuya emiphungeni
• Kwinkqubo yokugaya ukutya
• Ukuya engqondweni
• Ngamehlo

Oku kunokwenzeka nakwizitho zomzimba ezifana.

Kuqhelekile ukuba noloyiko xa ufumana uphawu obungenalo ngaphambili, njengokuqina kwemisipha. Usenokuba uzibuza, "Ngaba oku kuya kuba mandundu?" okanye "Oku kuya kuyichaphazela njani ubomi bam?" Eyona nto ingcono onokuyenza kukubona ugqirha . I-Myotonia yimeko engaqhelekanga, ngoko ke kungathatha ixesha ukufumana uxilongo oluchanekileyo. Kodwa okwangoku, ugqirha wakho unokukunceda unciphise uloyiko lwakho kwaye aphendule imibuzo yakho.

Ziziphi iintlobo eziphambili ze-myotonia?

Oogqirha bahlula i-myotonia kwiindidi ezimbini eziphambili: i-dystrophic kunye ne-non-dystrophic . Zombini ezi ntlobo zichaphazela imiqondiso yombane elawula ukuxinana kwemisipha. Nangona kunjalo, kwi-dystrophic myotonia, imisipha ngokwayo iyonakala. Igama elithi 'dystrophy' lithetha 'ukubuthathaka okanye ukuchithwa kwezicubu kancinci kancinci.'

I-Dystrophic Myotonia (DM)

I-Dystrophic Myotonia (DM) yimeko apho izihlunu ziba buthathaka kwaye zincipha (atrophy) ngokuhamba kwexesha, eziyinxalenye yeqela lezifo ezibizwa ngokuba yi-muscular dystrophy. Kukho iintlobo ezimbini eziphambili:

• Uhlobo lwe-Myotonic Dystrophy 1 (DM1) – Olu lolona hlobo luqhelekileyo.
• Uhlobo lwe-Myotonic Dystrophy 2 (DM2)

I-Myotonia engeyiyo i-dystrophic

Kwi-myotonia engeyiyo i-dystrophic, ulwakhiwo lwezicubu zemisipha alonakali. Ezinye iintlobo eziwela kolu didi zezi:

• Isifo sika-Andersen-Tawil
• Ukukhubazeka okwenziwa yi-hyperkalemic periodic
• Uhlobo 1 kunye nohlobo 2 lwe-Hypokalemic periodic paralysis
• I-Myotonia congenita – Olu lolona hlobo luqhelekileyo kweli qela.
• I-Paramyotonia congenita
• I-myotonia yetshaneli yesodiyam

Ziziphi iimpawu zeMyotonia?

Uphawu oluphambili lwe-myotonia kukungakwazi ukuphumza izihlunu xa sele ziqokelelene. Ezi mpawu zinokubonakala ebuntwaneni, ebuntwaneni, okanye ebudaleni, kuxhomekeke kuhlobo lwe-myotonia.

Ezinye iimpawu eziqhelekileyo ezinokubonwa ziquka:

• Utshintsho kwindlela ezibonakala ngayo izihlunu zakho – umzekelo, ukwanda kwezihlunu (hypertrophy) okanye ubuthathaka bezihlunu (hypotonia) .
• Ukudinwa .
• Intlungu yemisipha .
• Ubuthathaka bemisipha .
• Ukuziva ukuqina kwemisipha, kodwa ukuqina kwayo kuncipha xa ishukuma okanye isenza umthambo (into yokuzifudumeza) .

Iimpawu ezithile ze-dystrophic myotonia

Uhlobo ngalunye lwe-dystrophic myotonia luneempawu ezithile. Eminye imizekelo yile:

• Intlungu yesisu, ukuqhina, urhudo, i-acid reflux, ukudumba.
• Ukungaqhelekanga kwinkangeleko yobuso (ukuphazamiseka kobuso) .
• Ii-cataracts (ukufiphala kombono weliso) .
• I-Hyperglycemia yimeko ebangelwa kukunganyamezelani ne-insulin, nto leyo ebangela amanqanaba aphezulu eswekile egazini.
• Ukukhubazeka kwengqondo .
• Ukubetha kwentliziyo okungaqhelekanga (i-arrhythmia) okanye iingxaki ngemiqondiso yombane yentliziyo.
• Ukulahleka kweenwele phambi kwentloko kumadoda (i-androgenic alopecia) .
• I-apnea yokulala (i-apnea yokulala) .

Zithini iimpawu zabantu abanePeriodic Paralysis?

Une -hyperkalemic periodic paralysis.Ukuba unayo, unokufumana imeko efana nokungakwazi ukuqina apho izihlunu zakho ziphelelwa ngamandla kangangeyure enye ukuya kwezine.

Ukuba une -hypokalemic periodic paralysis , unokuba buthathaka bemisipha ebusuku okanye kusasa. Oku kungathatha iiyure ezimbalwa ukuya kwiintsuku ezimbalwa.

Yintoni ebangela i-myotonia?

I-Myotonia ibangelwa lutshintsho oluthile kwenye yezakhi zofuzo zakho. Ukuze kube cacileyo ngakumbi, olu tshintsho lwezakhi zofuzo luchaphazela imijelo ye-ion enoxanduva lokulawula ukusebenza kwezihlunu zakho.

Uhlobo ngalunye lwe-myotonia lubangelwa kukuguquka kwezakhi zofuzo ezahlukeneyo. Umzekelo, i-myotonic dystrophy uhlobo 1 lubangelwa yingxaki yezakhi zofuzo ze-DMPK . I-Myotonia congenita ibangelwa yingxaki yezakhi zofuzo ze-CLCN1 . Ungayifumana njengelifa lezakhi zofuzo komnye wabazali bakho okanye bobabini. Okanye, inokuvela ngokungacwangciswanga.

Uyazi njani ukuba une-myotonia?

Xa uqala inkqubo yokuxilonga, ugqirha wakho uza kukubuza ngeempawu zakho kunye nembali yempilo yosapho lwakho . Emva koko, ngaphambi kokuba acebise ngovavanyo lwe-myotonia, uza kususa ezinye iimeko eziqhelekileyo ezinokubangela iimpawu zakho, ezifana ne -hypothyroidism .

Ezi zezona zilingo zisetyenziselwa ukuxilonga i-myotonia:

• Uvavanyo lweGazi lweCreatine Kinase (CK): I-Creatine kinase yi-enzyme efumaneka ikakhulu kwimisipha. Amanqanaba e-CK adla ngokuphakanyiswa kwi-myotonia.
• I-Electromyography (EMG): Olu vavanyo luvavanya impilo kunye nokusebenza kwezihlunu zakho zamathambo kunye nemithambo-luvo ezilawulayo.
• Uvavanyo lwemfuza: Olu vavanyo lunokuchonga utshintsho lwemfuza olubangela iintlobo ezahlukeneyo ze-myotonia.
• Uvavanyo lwegazi lePotassium: Ugqirha wakho angasebenzisa olu vavanyo ukujonga ukuba kukho i-hyperkalemic periodic paralysis (i-potassium ephezulu egazini) okanye i-hypokalemic periodic paralysis (i-potassium ephantsi egazini).
• Uvavanyo olufutshane lokuzilolonga: Kolu vavanyo, kufuneka uqinise izihlunu zakho ngamaxesha athile ngelixa ugqirha ejonga indlela imithambo-luvo kunye nezihlunu zakho ezisabela ngayo.

I-Myotonia sisifo esingaqhelekanga,Kungathatha ixesha ukuba ufumane uxilongo oluchanekileyo. Ungakhathazeki ngaloo nto.

Ziziphi iindlela zonyango lwe-myotonia?

Unyango lwe-myotonia luxhomekeke kuhlobo lwakho kunye neempawu zakho. Wena nogqirha wakho niza kusebenzisana ukwenza isicwangciso sonyango esilungele iimfuno zakho. Musa ukuthandabuza ukubuza nayiphi na imibuzo onokuba nayo.

Unyango lomzimba ludla ngokuba yinxalenye yesicwangciso sakho sonyango. Ingcali yonyango lomzimba inokukunceda uphephe izinto ezaziwayo okanye ezinokubakho kwaye iphuhlise isicwangciso sokuzivocavoca esinokukunceda uhlale usebenza kangangoko unako. Iingcali zonyango lomzimba zinokukunceda ufumane iindlela ezintsha zokwenza imisebenzi yemihla ngemihla. Banokucebisa nezixhobo zokuncedisa ukuzivumelanisa nezimo okanye ukuhambahamba.

Unyango lwe-Dystrophic Myotonia

I-Dystrophic Myotonia inyangwa ngokweempawu. Kuya kufuneka uhlolwe rhoqo ukuze kujongwe impilo yamalungu achaphazelekileyo kuhlobo lwakho lwe-Dystrophic Myotonia.

Iyeza elinikwa ngoogqirha ikakhulu yi- mexiletine . Liyeza elilwa nokubetha kwentliziyo , kodwa likwanceda ekuqhaqhazeleni nasekuqineni kwemisipha. I-Mexiletine inokunceda nakwezinye iintlobo ze-non-dystrophic myotonia.

Unyango lweMyotonia olungelulo u-dystrophic

Ukongeza kumayeza, unyango lwe-non-dystrophic myotonia lungabandakanya ukuphepha izinto ezithile ezibangela oku. Ezi ziquka:

• Ukuphepha ukuvezwa ngumkhuhlane.
• Ukunciphisa umthambo onzima nonzima.

Unyango lokukhubazeka kwamaxesha athile

Unyango lokukhubazeka okwenziwa rhoqo ludla ngokubandakanya ukulawula amanqanaba e-potassium kunye nokuphepha izinto ezibangela oku. Ugqirha wakho unokucebisa ukuba uziphephe ezi zinto:

• Ukuphumla ixesha elide emva kokuzilolonga.
• Ukutya ukutya okune-carbohydrate eninzi.
• Ukutya ngamaxesha angaqhelekanga.
• Ukungalali kakuhle.
• Ukusebenza ebusuku.

Ukuba une -hypokalemic periodic paralysis , ugqirha wakho unokucebisa ukuba utye ukutya okutyebileyo kwi-potassium, njengeebhanana, iimbotyi, iziqhamo ezomisiweyo, iimango kunye nepapaya.

Ukuba une -hyperkalemic periodic paralysis , kunokufuneka ukuba ungatyi ukutya okune-potassium eninzi .

Ukuba la manyathelo awanelanga ukulawula iimpawu zakho, ugqirha wakho unokukunika elinye lamayeza abizwa ngokuba yi-dichlorphenamide okanye i-acetazolamide .

Ngaba uphuhliso lwe-myotonia lungathintelwa?

I-Myotonia ibangelwa lutshintsho lwemfuza, ngoko ke akukho nto unokuyenza ukuyithintela. Ukuba kukho umntu kusapho lwakho one-myotonia, okanye ukuba nawe unayo le meko, kwaye uceba ukuba nabantwana, cinga ngokubona umcebisi wezemfuza . Banokukuchazela umngcipheko wakho wokufumana esi sifo njengelifa kwaye basidlulisele kwisizukulwana esilandelayo.

Ithini ingqikelelo yomntu one-myotonia? (Ingqikelelo)

Ukuba une-myotonia, indlela ojonga ngayo izinto ixhomekeke kwizinto ezininzi. Ezi ziquka:

• Uhlobo lwe-myotonia onayo.
• Ubukhali beempawu zakho.
• Indlela umzimba wakho osabela ngayo kunyango.
• Impilo yakho iyonke kunye nobudala bakho.

Ugqirha wakho uya kukwazi ukukunika umbono olungileyo wento eza kwenzeka kwixesha elizayo kwimeko yakho ethile, kodwa ngokubanzi yinto efana nale:

• I-non-dystrophic myotonias idla ngokuba ne-prognosis elungileyo, kodwa oku kunokwahluka ngokuxhomekeke kubukhali beempawu zakho.
• Ingqikelelo ye -dystrophic myotonias ixhomekeke ekubeni ezinye iinkqubo zomzimba zichaphazeleka kangakanani. Uhlobo lwe-Myotonic dystrophy 1 kunye nolwesi-2 lunokunciphisa ixesha lokuphila.
• Ukukhubazeka rhoqo kunokuba mandundu ngokuhamba kweminyaka, kwaye kunokukhokelela kwiingxaki zemisipha ezingapheliyo nezinzima (i-myopathy) .

Ndifanele ndimbone nini ugqirha?

I-Myotonia yimeko engapheliyo/ehlala ixesha elide. Ngoko ke, kuya kufuneka ubone ugqirha ubomi bakho bonke ukuze ajonge iimpawu zakho aze abone ukuba unyango lwakho lusebenza kakuhle kangakanani.

Okubalulekileyo kukuba, iimeko ezinxulumene ne-myotonia zinokuchaphazela indlela osabela ngayo kwi -anesthesia . Ukuba ucwangciselwe ukwenza naluphi na utyando, kufuneka uxelele ugqirha wakho ngalo mba. Kufuneka uxelele nogqirha we-anesthesia oza kukunyamekela ngexesha lotyando.

Kuqhelekile ukuziva wothukile kwaye unesizungu xa ufunyaniswa ukuba unesifo esingaqhelekanga. I-Myotonia ichaphazela wonke umntu ngokwahlukileyo, ngoko unokuba nemibuzo emininzi. Iqela lakho lezonyango liya kuba nawe kulo lonke uhambo lwakho lokuxilonga nonyango. Fumana inkxaso kubo, kunye nakubantu obathandayo.

Izinto ezibalulekileyo ekufuneka sizikhumbule (Umyalezo Wokuya Ekhaya)

I-Myotonia yimeko apho izihlunu zingaphumli ngokukhawuleza emva kokuba zifinyeziwe. Oku kubangelwa zizinto zemfuza.

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- Kukho iintlobo ezimbini eziphambili zale nto: i-dystrophic (umonakalo kwisakhiwo semisipha) kunye ne-non-dystrophic (akukho monakalo kwisakhiwo).

- Iimpawu zingabandakanya ukuqina kwemisipha, ubuthathaka, iintlungu, kunye nokudinwa. Ezinye iintlobo zineempawu ezithile.

- Uvavanyo lwegazi, i-EMG, kunye novavanyo lwemfuza zisetyenziselwa ukufumanisa isifo.

- Unyango luyahluka ngokuxhomekeke kuhlobo lwesifo kunye neempawu. Oku kuquka unyango lomzimba, amayeza, kunye nokuphepha izinto ezithile (izinto ezibangela oku).

- Oku akunakuthintelwa, kodwa ungafumana uncedo kwingcebiso yemfuza.

- Ukuba unale mpawu, qiniseka ukuba ubonana nogqirha. Ukuxilongwa okufanelekileyo kunye nesicwangciso sonyango zibaluleke kakhulu kuwe.

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