Ngaba izihlunu zomzimba wakho ziyadanisa? Ngaba zihamba njengamaza? Masifunde ngeSifo seMisipha esiQhekezelayo!

Ngaba wakha wazibona okanye waziva izihlunu zakho ziqhaqhazela ngequbuliso, ngokungathi zihamba ngamaza, okanye zonke zidibene? Ngamanye amaxesha unokucinga ukuba yinto eyahlukileyo nje, kodwa inokuba luphawu lwemeko engaqhelekanga kodwa ebalulekileyo ekufuneka uyiqaphele. Yiloo nto siza kuthetha ngayo namhlanje, iRippling Muscle Disease . Ungakhathazeki, masiyigcine ilula.

Yintoni iRippling Muscle Disease?

Ngamafutshane, iRippling Muscle Disease yimeko engaqhelekanga echaphazela inkqubo yethu yemithambo-luvo kunye nemisipha. Oogqirha bakwabiza ngokuba yingxaki ye-neuromuscular . Kule meko, izihlunu zethu ziyafinyela rhoqo kwaye zingalawuleki, nto leyo ebangela ukuba ziqine kwaye ngamanye amaxesha zikhule kakhulu, nto leyo ebizwa ngokuba yi- hypertrophy .

Ezi mpawu zihlala ziqala xa umntwana efikisa okanye xa efikisa, kodwa kubalulekile ukukhumbula ukuba ngamanye amaxesha le meko inokuvela nakweyiphi na iminyaka.

Zithini iimpawu zesi sifo? Yintoni kanye kanye eyenzekayo?

Njengoko igama lisitsho, iRippling Muscle Disease ichaphazela kakhulu izihlunu zethu, ingakumbi izihlunu ezikufutshane nombindi womzimba wethu (izihlunu ezikufutshane) . Ngokukodwa, izihlunu ezisemathangeni ethu (ama-quadriceps) zichaphazeleka kakhulu.

Ukuba unayo (RMD), oko kuthetha ukuba izihlunu zakho "ziyavuseleleka" okanye "ziyavuseleleka ngokukhawuleza." Oku kuthetha ukuba izihlunu zakho zisabela ngendlela engaqhelekanga nokuba kuchukunyiswa okanye kucinezelo oluncinci.

Iimpawu eziqhelekileyo zesi sifo zezi:

• Ukudumba kwemisipha: Ukuze kube yinyani, ubunzima bemisipha yakho buqokelelana ndawonye bube ngathi "yindunduma".
• Ukuqina kwemisipha okuphindaphindwayo: Oku kungathatha imizuzwana engama-30.

Zombini ezi mpawu zihlala zenzeka xa into ibetha ithanga lakho ngequbuliso, njengaxa ungqubana nento ethile. Umzekelo, ukuba ungqubana nocango, umsipha wethanga lakho ungaqina ngequbuliso.

Malunga nama-60% abantu abane-RMD bafumana ukuxhuzula kwezihlunu. Oku kukuxhuzula kwezihlunu okubonakala ngathi ziimpethu ezirhubuluzayo phantsi kolusu. Oku kuhlala malunga nemizuzwana emi-5 ukuya kwengama-20. Oku kwenzeka rhoqo xa usolula izihlunu.

Ezinye iimpawu ezinokubonwa ziquka:

• Ukudinwa: Asikuko ukudinwa nje kuphela, kodwa kukudinwa kakhulu okuza ngaphandle kwesizathu.
• Ukuqaqamba kwemisipha: Ukuqaqamba kwemisipha ngequbuliso, okunamandla okubangela iintlungu eziqatha.
• Ukuqina kwemisipha:Kunzima ukugoba okanye ukuyivula inyama.

Ezi mpawu zinokuba mandundu emva kokuzilolonga okunzima okanye ukubanda. Kwabanye abantu, ezinye izihlunu zinokuba zikhulu ngendlela engaqhelekanga (hypertrophy) kwaye indlela yokuhamba inokutshintsha kancinci (indlela yokuhamba engaqhelekanga) .

Ingaba esi sifo sibuhlungu?

Ewe, (Isifo Semisipha Erhabaxa) sinokubangela iintlungu zemisipha. Ingakumbi xa izihlunu ziqhubeka zincipha, iintlungu ziba qatha ngakumbi ukuba zihlala ixesha elide. Kwakhona, xa izihlunu ziqengqeleka (ii-cramps) iintlungu ziyavela. Khawuthelekelele ukuba bekuya kuba nzima kangakanani ukuba izihlunu emlenzeni wakho bezihlala ziqinile.

Yintoni ebangela isifo seMisipha eRippling?

Isifo seMisipha esirhabaxa sidla ngokubangelwa kukuguquka kwezakhi zofuzo ezibizwa ngokuba yi-CAV3, esizizuzela kubazali bethu. Izakhi zofuzo ze-CAV3 zixelela imizimba yethu ukuba yenze iproteni ebizwa ngokuba yi-caveolin-3 . Le proteni ifumaneka kwi-membrane ejikeleze iiseli zemisipha. Abaphandi bakwakholelwa ukuba le proteni inceda ukulawula amanqanaba e-calcium , anceda izihlunu ziqine kwaye zoluleke.

Kubantu abane-RMD, utshintsho kwi-gene ye-CAV3 lubangela ukwehla kwemveliso yeproteni ye-caveolin-3. Abaphandi bakholelwa ukuba oku kunqongophala kweproteni kubangela ukuba amanqanaba e-calcium kwiiseli zemisipha angalawuleki kakuhle. Ngenxa yoko, izihlunu ziyafinyela ngendlela engaqhelekanga xa kushukunyiswa okanye kutsalwa kancinci.

Kukho iintlobo ezahlukeneyo zotshintsho kwi-gene (i-CAV3). Izifo ezinxulumene namadlala enyama ezibangelwa zezi nguqu ze-gene zibizwa ngokuba yi- (caveolinopathies) . Ukongeza kwi-(RMD), ezinye izifo ezininzi ezikweli qela zezi:

• (I-Autosomal dominant limb-girdle muscular dystrophy) (eyayisaziwa ngokuba yi-LGMD1C)
• (I-hypertrophic cardiomyopathy) (Esi sisifo sentliziyo)
• (I-hyperCKEmia ehlukanisiweyo) (Imeko apho i-enzyme creatine kinase egazini iphakanyisiwe)
• (i-CAV3-related distal myopathy) (isifo esichaphazela izihlunu kwimiphetho ekude)

Kwezi meko, ngamanye amaxesha iimpawu ezifana nokushwabana kwemisipha, ezifana nemibimbi, zinokubonakala kwi (RMD).

Kwakhona, kuye kwaxelwa uhlobo oluthile lwe-autoimmune lwe-Rippling Muscle Disease, oluvela kwisifo se-autoimmune i- Myasthenia gravis . Abo bantu abanayo i-CAV3 gene mutation. Oko kuthetha ukuba inkqubo yabo yokuzikhusela ihlasela imicu yemisipha.

Siyifumana njani le nto (iRippling Muscle Disease)?

Kwiimeko ezininzi, iRippling Muscle Disease ifunyanwa njengelifa kwi -autosomal dominant pattern . Ngamafutshane, oku kuthetha ukuba ungasifumana esi sifo ukuba ufumana ikopi enye ye-CAV3 gene eguquliweyo kumama okanye kutata wakho. Oku kunokwenzeka nokuba une-gene enye kuphela.

Kwiimeko ezingaqhelekanga, i-RMD inokufunyanwa njengelifa kwi- autosomal recessive pattern . Oku kuthetha ukuba kufuneka ufumane iikopi ezimbini ze-CAV3 gene eguquliweyo, kumama nakutata wakho.

Abantu abane-Rippling Muscle Disease kwimo ye -autosomal recessive banokuba neempawu eziqatha kancinci kunabo bane-autosomal dominant.

Kunqabile kakhulu, i-RMD inokwenzeka ngenxa yotshintsho olutsha, ngaphandle kwembali yosapho. Oku kuthetha ukuba esi siphene semfuza sinokuvela emzimbeni womntu okokuqala, ngaphandle kokufunyanwa njengelifa kubazali bakhe.

Oogqirha bayixilonga njani ngokuchanekileyo iRippling Muscle Disease?

Oogqirha basebenzisa olu vavanyo kunye neenkqubo zokuxilonga iRippling Muscle Disease, kodwa ayinguye wonke umntu omele akwenze konke oku.

• Imbali yezonyango: Ugqirha uza kukubuza ngeempawu zakho kunye nokuba kukho nabani na kusapho lwakho okhe waba ne-RMD okanye ezinye izifo ze-caveolinopathies.
• Uvavanyo lomzimba nolwemithambo-luvo: Ugqirha uza kujonga imeko yemisipha yakho kunye nokusebenza kwemithambo-luvo.
• Uvavanyo lwegazi lwe-Creatine kinase: Xa izihlunu zemisipha zonakele, le enzyme (i-creatine kinase) iyanda egazini.
• I-Electromyography (EMG): Oku kuvavanya umsebenzi wombane weefayibha zemisipha.
• I-biopsy yemisipha: Inxalenye encinci yemisipha iyathathwa ize ihlolwe phantsi kwe-microscope.
• Uvavanyo lwe-antibody: Olu vavanyo lwenziwa ukuze kubonwe ukuba i-(RMD) yi-autoimmune na.
• Uvavanyo lwemfuza: Le yeyona ndlela ilungileyo yokufumanisa ukuba kukho naluphi na utshintsho kwimfuza (i-CAV3).

Olu vavanyo lunceda ekuthinteleni ezinye izifo ezineempawu ezifanayo kwaye luqinisekisa iSifo seMisipha esiQhelekileyo.

Ngexesha lenkqubo yokuxilonga, ugqirha wakho unokukuthumela kwingcali, njengengcali yezifo zengqondo okanye ingcali yemfuza .

Zithini iindlela zonyango zoku?

Unyango lwe-Rippling Muscle Disease luxhomekeke ekubeni lubangelwa yimfuza okanye lubangelwa yi-autoimmune.

Unyango lwe-genetic:

Oku kubandakanya kakhulu ukulawula iimpawu kunye nokuthumela ingcebiso ngemfuza . Ukuba ukugoba okanye ukuncipha kwamasende kunzima kakhulu, amayeza athile anokunceda. Amayeza anjalo aquka:

• (I-Dantrolene): Le yimithi yokukhulula izihlunu.
• (Ii-calcium channel antagonists):La ngamayeza avimba imijelo yecalcium.
• IiBenzodiazepines: Ezi ziphumza izihlunu kwaye zinciphisa ixhala.

Unyango lokuzikhusela komzimba:

Oku kunganyangwa ngonyango lokuthintela amasosha omzimba , okanye ukuba une -thymoma (isimila kwi-thymus gland), utyando lokususa i-thymus gland (thymectomy) lunokwenziwa.

Ngaba singakuthintela oku (iRippling Muscle Disease) ukuba kuvele?

Ngenxa yokuba iRippling Muscle Disease idla ngokuba yimfuza, akukho nto sinokuyenza ukuyithintela. Asinto esinokuyilawula.

Nangona kunjalo, ukuba ukhathazekile ngomngcipheko wokudlulisela i-RMD okanye ezinye izifo zofuzo kumntwana wakho ngaphambi kokuba ube nomntwana, kubaluleke kakhulu ukuthetha nogqirha wakho malunga neengcebiso zofuzo ukuze ufumane ukuqonda okucacileyo.

Ndifanele ndimbone nini ugqirha?

• Ukuba iimpawu zakho ze-RMD ziya zisiba mandundu , okanye ukuba zivela rhoqo , qiniseka ukuba uthetha nogqirha wakho.
• Ukuba kukho umntu kusapho lwakho osandul’ ukufunyanwa ene-Rippling Muscle Disease, buza ugqirha wakho ukuba wena okanye amanye amalungu osapho lwakho nisengozini yokufumana esi sifo.

Ndingayibuza yiphi imibuzo ugqirha wam?

Unokufumana kuluncedo ukubuza ugqirha wakho le mibuzo:

• Ndingenza ntoni ukulawula iimpawu zam?
• Yeyiphi indlela yonyango engcono kum?
• Ngaba abantwana bam banokufumana iRippling Muscle Disease kum?
• Ngaba amanye amalungu osapho lwam kufuneka avavanywe iSifo seMisipha esiQhelekileyo?

Ngokubuza le mibuzo, uya kukwazi ukuqonda ngcono le meko.

Ngaba isifo seMisipha eRippling siyayichaphazela intliziyo?

Isifo seMisipha esirhabaxa asiyichaphazeli ngqo intliziyo. Nangona kunjalo, zombini i-RMD kunye ne -hypertrophic cardiomyopathy zibangelwa kukuguquka kwezakhi zofuzo kwijini enye (i-CAV3), ngoko ke kukho unxibelelwano phakathi kwezi zifo zimbini. Nangona kunqabile kakhulu, ukuguqulwa kwezakhi zofuzo kwijini ye-CAV3 kunokuchaphazela zombini izihlunu zentliziyo kunye nezinye izihlunu zomzimba. Kodwa kunqabile kakhulu.

Ngaba (Isifo Semisipha Eqhekekayo) siyabulala?

Isifo seMisipha esirhabaxayo asibulali. Oko kukuthi, asisongeli ubomi. Nangona kunjalo, iimpawu ze (RMD) ezifana nokubhitya kwemisipha efana nemibimbi nazo zinokuba luphawu lwezinye izifo (caveolinopathies) ezibangelwa kukuguquka kwezakhi zofuzo okukhankanyiweyo apha ngasentla (CAV3).

Kwi-caveolinopathies, iimeko ezinzima ze- autosomal dominant limb-girdle muscular dystrophy kunye ne -hypertrophic cardiomyopathy ngamanye amaxesha zinokuba yingozi ebomini.

Kuqhelekile ukuziva uxinezelekile xa ufunyaniswa ukuba unesifo semfuza, ingakumbi esingaqhelekanga. Kodwa khumbula, iqela lakho lezonyango liya kuba lapho ukuchazela ngeRippling Muscle Disease, likuxelele indlela esiza kukuchaphazela ngayo, kwaye likuncede ufumane eyona ndlela ilungileyo yokulawula iimpawu zakho.

Izinto ezibalulekileyo ekufuneka uzikhumbule (Umyalezo Wokuya Ekhaya)

Kulungile, ngoku sele uyiqonda into ebesithetha ngayo (iRippling Muscle Disease). Ngamafutshane:

• Isifo seMisipha eRippling sisifo esingaqhelekanga semisipha esibonakaliswa kukushukuma kwemisipha, ukushwabana, ukuqina, kunye nokugoba.
• Oku kuqheleke kakhulu, kubangelwe zizizathu zemfuza (i-gene ye-CAV3) . Ngamanye amaxesha, kusenokubakho nezizathu ze-autoimmune.
• Esi asisosifo sibulalayo , kodwa ezinye izifo ze-caveolinopathies ezinxulumene naso zinokuba yingozi kakhulu.
• Ukuba unale mpawu, ungoyiki kwaye ufune ingcebiso kagqirha . Eyona nto ibalulekileyo kukufumana uxilongo oluchanekileyo kwaye ufumane unyango olufunekayo kunye neengcebiso.
• Ingcebiso ngemfuza inokuba luncedo kakhulu kwiimeko ezinje.

Ukuba ufuna ukwazi okungakumbi ngale nto, okanye ukuba ucinga ukuba unazo ezi mpawu, nceda ubone ugqirha. Ungoyiki, kukho izisombululo kuyo yonke into.

Isifo seMisipha esirhabaxa , ukuxhuzula kwemisipha, ukuxinana kwemisipha, i-gene ye-CAV3, iintlungu zemisipha, izifo zemfuza, izifo zokuzikhusela komzimba