So ntini a ɛwɔ wo nipadua mu no saw? So wɔkeka wɔn ho te sɛ asorɔkye? Momma yensua Rippling Muscle Disease ho ade!

So woahu anaa woate nka pɛn sɛ wo ntini twitwiw mpofirim, te sɛ nea ɛrekɔ asorɔkye mu, anaasɛ ne nyinaa ayɛ akuwakuw? Ɛtɔ mmere bi a ebia wubesusuw sɛ ɛyɛ biribi foforo ara kwa, nanso ebetumi ayɛ tebea bi a ɛntaa nsi nanso ɛho hia a ɛsɛ sɛ wuhu ho sɛnkyerɛnne ankasa. Ɛno ne nea yɛbɛka ho asɛm nnɛ, Rippling Muscle Disease . Mma ɛnhaw wo, momma yɛmma ɛnyɛ mmerɛw.

Dɛn ne Rippling Muscle Disease?

Sɛ yɛbɛka no tiawa a, Rippling Muscle Disease yɛ tebea a ɛntaa nsi a ɛka yɛn ntini ne yɛn ntini ahorow. Nnuruyɛfo nso frɛ no ntini mu ntini mu yare . Wɔ eyi mu no, yɛn ntini ahorow no twetwe mpɛn pii a yentumi nni so, na ɛma ɛyɛ den na ɛtɔ mmere bi a enyin dodo, na wɔfrɛ no hypertrophy .

Saa sɛnkyerɛnne ahorow yi taa fi ase wɔ mmofraase anaa mmerantebere ne mmabaabere mu, nanso ɛho hia sɛ wokae sɛ ɛtɔ mmere bi a tebea no betumi ada adi wɔ mfe biara mu.

Dɛn ne yare yi ho sɛnkyerɛnne? Dɛn ankasa na ɛrekɔ so?

Sɛnea edin no kyerɛ no, Rippling Muscle Disease ka yɛn ntini titiriw, titiriw ntini a ɛbɛn yɛn nipadua mfinimfini (proximal muscles) . Nea ɛkɔ akyiri no, ntini a ɛwɔ yɛn asen (quadriceps) no na ɛka kɛse.

Sɛ wowɔ (RMD) a, ɛkyerɛ sɛ wo ntini no "yɛ anigye" anaasɛ "ɛyɛ anigye ntɛmntɛm." Eyi kyerɛ sɛ wo ntini ahorow no yɛ wɔn ade wɔ ɔkwan a ɛnteɛ so bere a wode wo nsa ka anaasɛ wohyɛ wo so ketewaa bi mpo no.

Saa yare yi ho sɛnkyerɛnne a ɛtaa ba ne:

• Muscle mounding: Sɛ yɛbɛka no pɛpɛɛpɛ a, wo muscle mass no boaboa ano wɔ baabi biako na ɛbɛyɛ te sɛ "mound".
• Ntini a ɛyɛ den mpɛn pii: Eyi betumi akɔ so bɛyɛ sikɔne 30.

Saa sɛnkyerɛnne abien yi nyinaa taa ba bere a biribi bɔ w’asen mpofirim, te sɛ bere a wo ne biribi bɔ no. Sɛ nhwɛso no, sɛ wobɔ ɔpon bi mu a, w’asen ntini betumi ayɛ den mpofirim na ayɛ den.

Nnipa a wɔwɔ RMD no mu bɛyɛ 60% nya ntini a ɛtwetwe. Eyi yɛ ntini a ɛtwetwe a ɛte sɛ nwansena a wɔrewea wɔ honam ani no a ɛtwetwe. Eyi di bɛyɛ sikani 5 kosi 20. Eyi taa ba bere a wotrɛw ntini bi mu no.

Nsɛnkyerɛnne afoforo a wobetumi ahu ne:

• Ɔbrɛ: Ɛnyɛ ɔbrɛ nko, na mmom ɔbrɛ a ɛboro so a ɛba a ntease biara nnim.
• Ntini mu akisikuru: Ntini mu akisikuru a emu yɛ den mpofirim a ɛde ɛyaw a emu yɛ den ba.
• Ntini a ɛyɛ den:Ɛte nka sɛ ɛyɛ den sɛ wobɛbɔ nam no anaasɛ wobɛyi afi mu.

Saa sɛnkyerɛnne ahorow yi betumi asɛe kɛse bere a wɔateɛteɛ wɔn apɔw mu denneennen anaasɛ awɔw a wɔde wɔn ho ahyɛ mu akyi. Wɔ nnipa binom fam no, ntini ahorow no bi betumi ayɛ akɛse a ɛnyɛ ne kwan so (hypertrophy) na ɔkwan a wɔfa so nantew no betumi asesa kakra (atypical gait) .

So yare yi yɛ yaw?

Yiw, (Rippling Muscle Disease) betumi ama ntini mu yaw. Titiriw bere a ntini no kɔ so twetwe no, ɛyaw no mu yɛ den kɛse sɛ ɛtra hɔ bere tiaa bi a. Afei nso, sɛ ntini no rehuruhuruw (cramps) a ɛyaw ba. Wo de susuw sɛnea ɛbɛyɛ den sɛ wo nan mu ntini bi yɛ den bere nyinaa a.

Dɛn na ɛde Rippling Muscle Disease ba?

Mpɛn pii no, nsakrae a ɛba awosu mu nkwaadɔm bi a wɔfrɛ no CAV3 a yenya fi yɛn awofo hɔ no mu na ɛde Rippling Muscle Disease ba. CAV3 awosu mu abɔde no ka kyerɛ yɛn nipadua sɛ yɛnyɛ protein bi a wɔfrɛ no caveolin-3 . Wohu protein yi wɔ ntini a atwa ntini mu nkwammoaa ho ahyia no mu. Nhwehwɛmufo gye di nso sɛ saa protein yi boa ma wodi calcium dodow a ɛboa ma ntini no twetwe na ɛtrɛw no so.

Wɔ nnipa a wɔwɔ RMD mu no, nsakrae a ɛba CAV3 awosu mu abɔde mu no ma protein caveolin-3 a wɔyɛ no so tew. Nhwehwɛmufo gye di sɛ protein a enni nipadua no mu yi ma calcium dodow a ɛwɔ ntini mu nkwammoaa mu no ntumi nyɛ adwuma yiye. Ne saa nti, ntini no twetwe wɔ ɔkwan a ɛnteɛ so esiane sɛ wɔpia anaa wɔtwe kakra nti.

Nsakrae ahorow pii wɔ saa (CAV3) awosu mu abɔde yi mu. Wɔfrɛ nyarewa a ɛfa nam ntini a saa awosu mu nkwaadɔm mu nsakrae yi de ba no (caveolinopathies) . Wɔ (RMD) akyi no, nyarewa afoforo pii a ɛka saa kuw yi ho ne:

• (Autosomal dominant limb-girdle muscular dystrophy) (kan no na wɔfrɛ no LGMD1C) .
• (Hypertrophic cardiomyopathy) (Eyi yɛ komayare) .
• (Isolated hyperCKemia) (Tebea a ɛma enzyme creatine kinase a ɛwɔ mogya no mu no kɔ soro) .
• (CAV3-related distal myopathy) (yare bi a ɛka ntini a ɛwɔ akyirikyiri no) .

Wɔ tebea horow yi mu no, ɛtɔ mmere bi a wobetumi ahu sɛnkyerɛnne ahorow te sɛ ntini a ɛtwetwe te sɛ nwi a ɛyɛ nwininwini wɔ RMD no mu.

Afei nso, wɔabɔ Rippling Muscle Disease a nipadua no tumi ko tia nyarewa a ɛba bere a nipadua no tumi ko tia nyarewa a wɔfrɛ no Myasthenia gravis no ho amanneɛ. Saa nkurɔfo no nni CAV3 awosu mu nkwaadɔm mu nsakrae no. Ɛno kyerɛ sɛ wɔn ankasa nipadua mu ahoɔden a ɛko tia nyarewa no tow hyɛ ntini ahorow no so.

Yɛyɛ dɛn nya eyi (Rippling Muscle Disease) fi awo mu?

Mpɛn pii no, wonya Rippling Muscle Disease fi awo mu wɔ autosomal dominant nhyehyɛe mu . Sɛ yɛbɛka no tiawa a, eyi kyerɛ sɛ sɛ wunya CAV3 awosu mu abɔde a wɔasesa no biako fi wo maame anaa wo papa hɔ a, wubetumi anya yare no. Sɛ wowɔ awosu mu abɔde biako pɛ mpo a, ebetumi asi.

Wɔ tebea horow a ɛntaa nsi mu no, wobetumi anya RMD fi awo mu wɔ autosomal recessive nhyehyɛe mu . Eyi kyerɛ sɛ ɛsɛ sɛ wunya CAV3 awosu mu abɔde a wɔasesa no abien, fi wo maame ne wo papa nyinaa hɔ.

Ebia nnipa a wɔwɔ Rippling Muscle Disease wɔ autosomal recessive kwan so no benya sɛnkyerɛnne a emu yɛ den kakra sen wɔn a wɔwɔ bi wɔ autosomal dominant kwan so no.

Ɛntaa mma koraa sɛ RMD nso betumi aba esiane nkwaadɔm mu nsakrae foforo nti, a abusua abakɔsɛm biara nni mu. Eyi kyerɛ sɛ saa awosu mu dɛmdi yi betumi asɔre wɔ obi nipadua mu nea edi kan, a wonnya mfi n’awofo hɔ.

Ɔkwan bɛn so na nnuruyɛfo hu Rippling Muscle Disease pɛpɛɛpɛ?

Nnuruyɛfo de nhwehwɛmu ne akwan horow yi di dwuma de hu Rippling Muscle Disease, nanso ɛnyɛ obiara na ɛsɛ sɛ ɔyɛ eyinom nyinaa.

• Aduruyɛ ho abakɔsɛm: Oduruyɛfo no bebisa wo yare no ho sɛnkyerɛnne ne sɛ ebia obi wɔ w’abusua mu anya RMD anaa caveolinopathies afoforo anaa.
• Nipadua ne ntini mu nhwehwɛmu: Oduruyɛfo no bɛhwɛ sɛnea wo ntini ne wo ntini dwumadi te.
• Creatine kinase mogya mu nhwehwɛmu: Sɛ ntini mu ntini sɛe a, saa enzyme yi (creatine kinase) kɔ soro wɔ mogya no mu.
• Electromyography (EMG): Eyi sɔ anyinam ahoɔden dwumadi a ɛwɔ ntini mu nhama mu hwɛ.
• Muscle biopsy: Wɔfa ntini ketewaa bi na wɔde afiri a wɔde hwɛ nneɛma nketenkete hwehwɛ mu.
• Antibody nhwehwɛmu: Wɔyɛ nhwehwɛmu yi de hwɛ sɛ (RMD) no yɛ autoimmune anaa.
• Awosu mu nhwehwɛmu: Eyi ne ɔkwan a eye sen biara a wobɛfa so ahu sɛ nsakrae bi aba (CAV3) awosu mu nkwaadɔm no mu anaa.

Saa nhwehwɛmu ahorow yi boa ma woyi nyarewa afoforo a ɛwɔ sɛnkyerɛnne a ɛte saa ara fi hɔ na wosi Rippling Muscle Disease so dua.

Bere a woreyɛ nhwehwɛmu no, wo duruyɛfo betumi de wo akɔ oduruyɛfo titiriw bi nkyɛn, te sɛ ntini ho ɔbenfo anaa awosu ho ɔbenfo .

Dɛn ne ayaresa ahorow a wɔde sa eyi?

Rippling Muscle Disease ayaresa gyina sɛ ebia ɛyɛ awosu mu anaasɛ nipadua no ankasa na ɛko tia nyarewa.

Awosu mu ayaresa:

Eyi hwehwɛ titiriw sɛ wobedi sɛnkyerɛnne ahorow so na wɔde awosu mu afotu akɔma wɔn . Sɛ awotwaa no a ɛrehuruhuruw anaasɛ ɛtwetwe no mu yɛ den yiye a, nnuru bi betumi aboa. Nnuru a ɛtete saa no bi ne:

• (Dantrolene): .
• (Nnuru a ɛko tia calcium akwan):Eyinom yɛ nnuru a esiw calcium akwan ano.
• Benzodiazepines: Eyinom ma ntini ahorow no dwo na ɛtew dadwen so.

Ayaresa a nipadua no tumi ko tia nyarewa:

Wobetumi de aduru a ɛma nipadua no tumi ko tia nyarewa , anaasɛ sɛ wowɔ thymoma (akisikuru a ɛwɔ thymus ntini no mu) a, wobetumi ayɛ oprehyɛn de ayi thymus ntini no (thymectomy) .

So yebetumi asiw eyi (Rippling Muscle Disease) ano sɛ ɛrennya?

Esiane sɛ Rippling Muscle Disease taa yɛ awosu mu nneɛma nti, biribiara nni hɔ ankasa a yebetumi ayɛ de asiw ano. Ɛnyɛ biribi a yebetumi adi so.

Nanso, sɛ asiane a ɛwɔ hɔ sɛ wode RMD anaa awosu mu nyarewa afoforo bɛma wo ba ansa na woawo no haw wo a, ɛho hia yiye sɛ wo ne wo duruyɛfo kasa fa awosu mu afotu ho sɛnea ɛbɛyɛ a wubetumi anya ntease a emu da hɔ.

Bere bɛn na ɛsɛ sɛ mekɔ oduruyɛfo nkyɛn?

• Sɛ wo RMD sɛnkyerɛnne no mu yɛ den , anaasɛ ɛtaa ba a , hwɛ hu sɛ wo ne wo duruyɛfo bɛkasa.
• Sɛ nnansa yi ara wɔahu sɛ obi a ɔwɔ w’abusua mu anya Rippling Muscle Disease a, bisa wo duruyɛfo sɛ ebia wo anaa abusua no mufo afoforo wɔ asiane mu sɛ wobenya saa yare yi anaa.

Nsɛm bɛn na ɛsɛ sɛ mibisa me duruyɛfo?

Ebia wubehu sɛ ɛbɛyɛ nea mfaso wɔ so sɛ wubebisa wo duruyɛfo nsɛm yi:

• Dɛn na metumi ayɛ de adi me yare no ho sɛnkyerɛnne ahorow ho dwuma?
• Ayaresa kwan bɛn na eye ma me?
• So me mma betumi anya Rippling Muscle Disease afi me hɔ?
• So ɛsɛ sɛ wɔyɛ m’abusua mufo afoforo nhwehwɛmu sɛ ebia wɔwɔ Rippling Muscle Disease anaa?

Sɛ wubisa nsɛm yi a, wubetumi anya tebea yi ho ntease pa.

So Rippling Muscle Disease ka koma no?

Rippling Muscle Disease nka koma no tẽẽ. Nanso, RMD ne hypertrophic cardiomyopathy nyinaa fi nkwaadɔm mu nsakrae a ɛba awosu mu nkwaadɔm koro (CAV3) mu, enti abusuabɔ bi da nyarewa abien no ntam. Ɛwom sɛ ɛntaa nsi koraa de, nanso nsakrae a ɛba CAV3 awosu mu abɔde mu no betumi aka koma ntini ne ntini afoforo a ɛwɔ nipadua no mu nyinaa. Nanso ɛntaa nsi koraa.

So (Rippling Muscle Disease) no di awu?

Rippling Muscle Disease ankasa nkum obi. Ɛne sɛ, ɛnyɛ nea ɛde nkwa to asiane mu. Nanso, (RMD) ho sɛnkyerɛnne te sɛ ntini a ɛtwetwe te sɛ nwi nso betumi ayɛ nyarewa afoforo (caveolinopathies) a efi awosu mu nkwaadɔm mu nsakrae a yɛadi kan aka ho asɛm (CAV3) no mu ba no ho sɛnkyerɛnne.

Wɔ caveolinopathies no mu no, ɛtɔ mmere bi a autosomal dominant limb-girdle muscular dystrophy ne hypertrophic cardiomyopathy a emu yɛ den betumi de nkwa ato asiane mu.

Ɛyɛ ade a ɛfata sɛ wobɛte nka sɛ woayɛ basaa bere a wohu sɛ wowɔ awosu mu yare bi, titiriw nea ɛntaa nsi no. Nanso kae sɛ, w’aduruyɛfo kuw no bɛba hɔ akyerɛkyerɛ Rippling Muscle Disease mu akyerɛ wo, akyerɛ wo sɛnea ɛbɛka wo, na wɔaboa wo ma woahu ɔkwan a eye sen biara a wobɛfa so adi wo sɛnkyerɛnne ahorow no ho dwuma.

Nneɛma a ɛho hia sen biara a ɛsɛ sɛ wokae (Take-Home Message) .

Okay, enti seesei woanya nteaseɛ bi wɔ nea yɛaka ho asɛm (Rippling Muscle Disease) no ho. Sɛ yɛbɛbɔ no mua a:

• Rippling Muscle Disease yɛ ntini mu yare a ɛntaa nsi a ntini a ɛtwetwe, ɛyɛ nwininwini, ɛyɛ den, na ɛyɛ kurukuruwa.
• Mpɛn pii no, awosu mu nneɛma a ɛde eyi ba (CAV3 awosu mu abɔde) . Ɛtɔ mmere bi a, ebia nneɛma a nipadua no tumi ko tia nyarewa nso wɔ hɔ.
• Eyi nyɛ yare a edi awu . Nanso, caveolinopathies afoforo a ɛbata ho no bi betumi ayɛ nea emu yɛ den.
• Sɛ wowɔ saa sɛnkyerɛnne ahorow yi a, mma wo ho nnyɛ wo hu na hwehwɛ aduruyɛfo afotu . Ade a ɛho hia sen biara ne sɛ wubehu yare no pɛpɛɛpɛ na woanya ayaresa ne afotu a ɛho hia.
• Awosu mu afotu betumi ayɛ nea mfaso wɔ so kɛse wɔ tebea horow a ɛte sɛɛ mu.

Sɛ wopɛ sɛ wuhu eyi ho nsɛm pii, anaasɛ wususuw sɛ wowɔ saa sɛnkyerɛnne ahorow yi a, yɛsrɛ wo kɔ oduruyɛfo nkyɛn. Nsuro, biribiara ano aduru wɔ hɔ.

` Rippling Muscle Disease, ntini a ɛtwetwe, ntini a ɛtwetwe, CAV3 gene, ntini mu ɛyaw, awosu mu nyarewa, autoimmune nyarewa