So wo anaa wo ba nipadua yɛ mmerɛw? So ebetumi aba sɛ ɛyɛ Nemaline Myopathy?

So ɛtɔ da bi a wote nka sɛ wo nipadua ayɛ mmerɛw kɛse, anaasɛ wo ba kumaa no reyɛ nneɛma akyiri kakra sen mmofra afoforo, anaasɛ ɛte sɛ nea ahoɔden nni no? Nneɛma ahorow nti na saa nneɛma yi betumi asi. Nanso, ɛnnɛ yɛrebɛka tebea bi a ɛntaa nsi nanso ɛho hia a ɛho hia sɛ yɛma yɛn ani da hɔ ho asɛm. Ɛno yɛ tebea bi a wɔfrɛ no Nemaline Myopathy .

Dɛn ne Nemaline Myopathy?

Sɛ yɛbɛka no tiawa a, Nemaline Myopathy yɛ tebea bi a ɛka ntini a ɛboa ma yɛn nipadua tu (a wɔsan frɛ no nnompe ntini ). Eyi ma ntini ahorow yɛ mmerɛw (myopathy) wɔ nipadua no afã horow. Ɛtɔ mmere bi a, saa sɛnkyerɛnne ahorow yi betumi aba wɔ awo mu, anaa mmofraase, na ɛntaa mma koraa wɔ mpanyin afe so. Saa ntini mu mmerɛwyɛ yi taa ka:

• Wɔ w’anim
• Kɔ kɔn mu
• Kɔ asen no fã hɔ
• Ɛde kɔ mmati so
• Wɔ nsa ne nan a ɛwɔ soro no fam

Biribi titiriw foforo wɔ nemaline myopathy yi ho. Ɛne sɛ, sɛ yɛhwehwɛ ntini no mu (yɛyɛ biopsy ) a, yehu nneɛma nketenkete a ɛte sɛ asaawa wɔ ntini no mu (wɔfrɛ eyi nemaline nipadua) . Hela asɛmfua "nema" nso kyerɛ "te sɛ asaawa". Enti saa na saa yare yi nyaa ne din. Wɔde din afoforo nso frɛ no, ebia woate ho asɛm:

• Awosu mu poma yare
• Nemaline nipadua mu yare
• Rod myopathy a ɛyɛ mmerɛw

Wɔwo nnipa dodow no ara a wɔwɔ nemaline myopathy a awosu mu nsakrae bi a wonya fii wɔn awofo hɔ . Nanso, ɛntaa mma koraa sɛ tebea no betumi aba a abusua abakɔsɛm biara nni mu, na ebetumi afi awosu mu nkwaadɔm mu nsakrae a ɛba kwa mu aba.

Nea ɛho hia ne sɛ wonni aduru biara a wɔde sa nemaline myopathy. Nanso, ayaresa ahorow wɔ hɔ a ebetumi aboa ma wɔadi yare no ho sɛnkyerɛnne ahorow so na ama asetra ayɛ mmerɛw. Nnipa a wɔwɔ nemaline myopathy a abu so sen biara no taa tumi tra ase sɛnea ɛsɛ na wɔyɛ nnam.

So Nemaline Myopathy ahorow ahorow wɔ hɔ?

Yiw, nemaline myopathy ahorow atitiriw asia na ɛwɔ hɔ. Bere a yare no ho sɛnkyerɛnne fi ase ne sɛnea yare no mu yɛ den no gu ahorow gyina ko a yare no ko so. 1. Nemaline myopathy a wɔtaa de wo obi: Eyi ne nea abu so sen biara . Ayarefo a wɔwɔ nemaline myopathy nyinaa mu bɛyɛ fã yɛ saa ɔkwan yi mufo. Eyi yɛ tebea a ɛwɔ hɔ wɔ awo mu. 2. Mfinimfini awo mu nemaline myopathy:Wɔ saa ɔkwan yi so no, yare no ho sɛnkyerɛnne no mu nyɛ den pii te sɛ nea emu yɛ den no, nanso emu yɛ den sen nea ɛyɛ daa no. Ayarefoɔ bɛyɛ 20% na wɔwɔ saa saa. 3. Nemaline myopathy a emu yɛ den a wonya fi awo mu (wɔawo foforo) : Eyi yɛ tebea a emu yɛ den a ɛwɔ hɔ bere a wɔawo no . Ayarefo bɛyɛ 16% na wɔwɔ saa ɔkwan yi. 4. Mmofraberem- onset nemaline myopathy: Saa ɔkwan yi pue wɔ mfe 10 kosi 20. Ayarefo bɛboro 10% kakra wɔ saa su yi. 5. Adult-onset nemaline myopathy : This condition occurs between the ages of 20 and 50. About 4% of patients have this type. 6. Amish nemaline myopathy : Eyi yɛ ɔkwan pɔtee bi a wohu wɔ Amishfo mu. Ɛntaa nsi koraa na mpɛn pii no ebetumi ama obi awu wɔ mmofraase.

Henanom na wobetumi anya saa tebea yi?

Nemaline myopathy betumi aka obiara, a ɔbarima anaa ɔbea, abusuakuw, anaa ɔsom mfa ho. Nanso, sɛ w’awofo no mu biako anaa wɔn baanu nyinaa kura awosu mu nkwaadɔm mu nsakrae a ɛde yare no ba a, asiane kɛse wom sɛ wobɛkɔ so . Nnipa a wɔwɔ Amishfo mpɔtam hɔ nso wɔ asiane kɛse mu. Ɛyɛ yare a ɛntaa nsi koraa . Nhwehwɛmufo ka sɛ yare no ba wɔ mmofra a wɔawo wɔn a wɔte ase bɛyɛ 50,000 biara mu biako mu. Nanso, wɔ Amishfo mpɔtam hɔ no, wɔka sɛ nnipa 500 biara mu biako betumi aka saa tebea yi.

Dɛn ne nneɛma a ɛde Nemaline Myopathy ba?

Nemaline myopathy yɛ yɛn nnompe ne yɛn ntini mu yare . Mpɛn pii no, nsakrae a ɛba awosu mu nkwaadɔm mu, a wɔfrɛ no awosu mu nkwaadɔm mu nsakrae . Wobetumi anya awosu mu nkwaadɔm mu nsakrae yi afi awofo biako anaa wɔn baanu nyinaa hɔ.

• Ɛtɔ mmere bi a, tebea yi betumi aba sɛ awofo baanu no nyinaa kura awosu mu abɔde a ɛnteɛ no (i.e., wonya fi awo mu sɛ autosomal recessive trait) .
• Ɛntaa mma sɛ ebetumi aba sɛ ɔwofo biako pɛ na onya awosu mu abɔde a ɛnteɛ no (kyerɛ sɛ, sɛ autosomal dominant su ) mpo a.
• Ɛtɔ mmere bi a, tebea yi nso betumi afi awosu mu nsakrae foforo a ɛba kwa wɔ mmadwoa anaa nkesua mu no mu aba.

Mpɛn pii no, nsakrae a ɛba awosu mu nkwaadɔm a wɔfrɛ no Nebulin (NEB) anaa awosu mu abɔde Actin alpha-1 (ACTA1) mu na ɛde eyi ba . Nebulin ne actin yɛ protein ahorow abien a ɛboa ma yɛn ntini twetwe. Fa no sɛ afiri bi afã horow. Sɛ ɔhaw bi ba saa afã horow yi ho a, ntini no gyae adwumayɛ yiye.

Dɛn ne yare yi ho sɛnkyerɛnne?

Nemaline myopathy ho sɛnkyerɛnne atitiriw ne:

• Ntini mu ahoɔden a ɛso tew (Hypotonia) : Mmerewa a wɔte nka wɔ nipadua no mu, te sɛ rɔba bɔɔl.
• Reflexes a ɛso tew anaasɛ ɛyera: Tumi a ɛma nan no tu so tew bere a oduruyɛfo no de hama ketewaa bi bɔ kotodwe no.
• Ntini mu mmerɛwyɛ: Sɛnea obi te nka sɛ ɔyɛ mmerɛw wɔ nipadua no mu .

Sɛ wo ba a wɔawo no foforo no da saa sɛnkyerɛnne ahorow yi adi a, ebia wubehu nneɛma afoforo te sɛ:

• Nantew a ɛwosow a ɛnyɛ ne kwan so (nantew mu haw) .
• Delayed motor skills: Wɔkyɛ wɔ nneɛma te sɛ tra, gyinabea, ne ti sohwɛ mu.
• Ɔkasa ne mene a ɛyɛ den (dysarthria ne dysphagia) .
• Wɔde anom fã no si akyi akyirikyiri sen sɛnea ɛte daa (retrognathia) .
• Anim a ɛyɛ tenten a wobɛfa .
• Ano no atifi anom a ɛyɛ kurukuruwa a ɛnyɛ ne kwan so .
• Ɔkasa a ɛyɛ mmerɛw (velopharyngeal dysfunction) .
• Ɔhome a ɛyɛ mmerɛw bere a wɔada (anadwo mframa a ɛmma obi ntumi nkɔ nipadua no mu) , a ebetumi ama carbon dioxide dodow a ɛwɔ mogya no mu akɔ soro (hypercarbia) .
• Ɔhome a ɛyɛ den (dyspnea) .

Nnipa a wɔwɔ saa tebea yi betumi anya sɛnkyerɛnne afoforo bere a wɔrenyin no :

• Akyi berɛmo a ɛyɛ den a ɛnyɛ ne kwan so .
• Scoliosis a ɛma obi ho kyere no .
• Nkwaa a wɔde yɛ adwuma .
• Koko a akɔ fam (pectus excavatum) .

Ɔkwan bɛn so na wohu yare yi?

Nea edi kan no, oduruyɛfo bi bebisa wo anaa wo ba no wo yare no ho sɛnkyerɛnne ne sɛ ebia obi a ɔwɔ w’abusua mu anya tebea a ɛte saa ara anaa. Afei, wɔbɛyɛ nipadua mu nhwehwɛmu. Sɛ oduruyɛfo no susuw sɛ nemaline myopathy a, ɔbɛhyɛ sɛ wɔnyɛ ntini mu ntini mu nhwehwɛmu . Nea ɛka eyi ho ne sɛ wobeyi ntini ketewaa bi afi hɔ bere a wɔreyɛ oprehyɛn no na wɔahwɛ mu. Sɛ wo anaa wo ba no wɔ saa tebea yi a, wubehu nneɛma a ɛte sɛ asaawa (nemaline nipadua) a ɛwɔ saa ntini no mu. Oduruyɛfo no bɛyɛ awosu mu nhwehwɛmu nso .Wobetumi akamfo akyerɛ nso. Eyi betumi asi tebea a nemaline myopathy wom no so dua.

Ɔkwan bɛn so na wɔsa?

Sɛnea yɛadi kan aka no, aduru pɔtee biara nni hɔ a wɔde bɛsa eyi. Enti, ayaresa no atirimpɔw ne sɛ ɛbɛtew yare no ho sɛnkyerɛnne so na aboa ma asetra ayɛ mmerɛw . Ayaresa no betumi ayɛ:

• Boa ma ahome a ɛyɛ den: Eyi betumi ayɛ tracheostomy , a wɔde bɛka afiri a wɔde ma mframa a wɔde yɛ adwuma ho, anaasɛ BiPAP afiri a wɔde bedi dwuma.
• Apɔw-mu-teɛteɛ a ennya nkɛntɛnso kɛse: Kura ntini ahoɔden mu.
• Massage therapy ne nipadua mu ayaresa : Ma ntini no yɛ adwuma yiye.
• Ɔkasa mu ayaresa : Tew kasa mu nsɛnnennen ne kasa a ɛyɛ den so.
• Akwan a wɔfa so trɛw : Ma ntini no kankan yɛ kɛse.
• Nneɛma a wɔde boa ma obi nantew: Nneɛma te sɛ poma, poma, nkotodwe a wɔde hyɛ mu, ne mmubuafo akongua.

Sɛ yare no ho sɛnkyerɛnne no mu yɛ den, anaasɛ akwahosan mu nsɛnnennen afoforo wɔ hɔ a, ebia ebehia sɛ wɔde wo kɔ ayaresabea . Ayaresabea a wɔde obi bɛkɔ no betumi ama wɔanya ayaresa ahorow a edidi so yi:

• Ɔhome mmoa: Te sɛ mfiri a wɔde ma mframa a ɛbɛboa wo ma woahome bere a woada.
• Oprehyɛn : Sa nkwaa a ɛyɛ mmerɛw anaasɛ scoliosis .
• Enteral nutrition : Sɛ ɛyɛ den ma wo sɛ wobɛmene aduan a.

So wobetumi atew asiane yi so?

Nokwarem no, ɔkwan biara nni hɔ a wobɛfa so asiw wo ho anaa wo ba no kwan sɛ obenya nemaline myopathy. Nanso, ɛho hia yiye sɛ wuhu sɛnkyerɛnne ahorow no, hwehwɛ aduruyɛfo afotu ntɛm, na sɛ ɛho hia a, wufi ase sa yare .

Daakye bɛn na obi a ɔwɔ saa tebea yi betumi ahwɛ kwan?

Eyi gu ahorow kɛse ankasa a egyina yare ko a obi wɔ so .

• Nemaline myopathy a wɔtaa de fi awo mu: Mpɛn pii no, ntini mu mmerɛwyɛ kɔ so yɛ saa ara bere a bere kɔ so no. Nanso, bere a worenyin no, mmerɛwyɛ no betumi ayɛ kɛse kakra bere a worenyin no.
• Nemaline myopathy a emu yɛ den a wonya fi awo mu (wɔawo foforo): Eyi betumi de nsɛnnennen aba . Nhwɛsoɔ:
• Nkwaa pii akɔhyɛ baabi a wɔabɔ anaasɛ wɔatrɛw mu (Arthrogryposis multiplex congenita) .
• Aduan anaa nsu a wɔhomeAspiration ahurututu mu yare .
• Nneɛma a abubu.
• Koma ntini mu yare (Cardiomyopathy) .
• Ɔhome a entumi nyɛ adwuma yiye .
• Intermediate congenital nemaline myopathy: Ebia nnipa pii behia mmoa a wɔde home ne mmubuafo akongua.
• Nemaline myopathy a efi ase wɔ mmofraase : Eyi betumi ama nan no ahwe ase, a ɛne sɛ wontumi nkotow nan no nkɔ soro. Ebetumi nso ama ne nansoaa ne nan ase ntini a ɛkeka ne ho no ayera.
• Nemaline myopathy a efi ase wɔ mpanyimfo mu : Eyi nso betumi de nsɛnnennen aba :
• Ɔhome a ɛyɛ den.
• Ɛyɛ den sɛ wobɛkura ti no mu tẽẽ esiane kɔn mu ntini a ɛyɛ mmerɛw nti.
• Komayare ho nsɛnnennen.
• Ntini mu mmerɛwyɛ a ɛkɔ soro nkakrankakra.
• Amish nemaline myopathy : Nsɛnnennen a ɛwɔ tebea yi mu ne ntini a ɛyɛ mmerɛw nkakrankakra, ɔhome a entumi nyɛ adwuma yiye, ne ntini a ɛyɛ mmerɛw .

Enti, daakye de, egyina yare no ko ne sɛnea sɛnkyerɛnne ahorow no mu yɛ den so . Ebia obi a ɔwɔ yare no a emu nyɛ den sen biara (typical congenital nemaline myopathy) betumi anantew a onni mmoa biara. Nanso, nnipa a wɔn yare no mu yɛ den sen biara (Amish nemaline myopathy) taa tra ase bɛyɛ mfe abien.

Nanso mma ɛnhaw wo. Ɛwom sɛ wonni aduru biara de, nanso sɛ wɔsa wɔn yare yiye a, nnipa pii a wɔwɔ nemaline myopathy betumi atra ase akyɛ . Ɛdenam yare ko a obi bɛtra so no so no, nkwa nna betumi afi asram kakraa bi akosi nkwa nna nyinaa mu.

Sɛ ɛba saa tebea yi mu a, wobɛyɛ dɛn ahwɛ wo ho anaa wo ba?

Wubetumi aboa ma tebea yi mu nsɛnnennen so atew denam nea edidi so yi a wobɛyɛ so:

• Hwɛ sɛnea wo koma yɛ adwuma daa.
• Hwehwɛ aduruyɛ mu afotu ne ayaresa ntɛm ara sɛ wunya ɔhome akwaa a ɛwɔ fam (e.g. ahurututu mu yare , koko mu yare, ahurututu mu yare ).

Sɛ woyɛ obi a wowɔ awosu mu nkwaadɔm a ɛde yare yi ba na wo nso wowɔ anidaso sɛ wobɛwo a, ɛbɛyɛ papa sɛ wo ne awosu mu ɔfotufo bi behyia akɔhwehwɛ afotu .

Kae sɛ nsɛm a wɔaboaboa ano

Nemaline Myopathy (NM) yɛ tebea a ɛntaa nsi a ɛka nnompe mu ntini. Nsɛnkyerɛnne titiriw ne ntini ahorow a ɛso tew ne ntini ahorow a ɛyɛ mmerɛw. Saa yare yi ahorow pii wɔ hɔ, na ɛsono sɛnea emu biara fi ase ne sɛnea emu yɛ den. Ɛwom sɛ wonni aduru pɔtee biara de, nanso ayaresa ahorow bi wɔ hɔ a wɔde bɛtew yare no ho sɛnkyerɛnne so.. Nnipa dodow no ara a wɔwɔ ɔkwan a ɛtaa ba (typical congenital nemaline myopathy) no betumi atra ase a wɔde wɔn ho a wɔde ayaresa a ɛfata ama wɔn. Nkɔmhyɛ a ɛfa ahorow afoforo ho no gu ahorow a egyina sɛnea sɛnkyerɛnne ahorow no mu yɛ den so. Enti, ɛho hia yiye sɛ wudi nnuruyɛfo afotu akyi na wunya ɔhwɛ a ɛfata . Nemaline Myopathy, Ntini mu Mmerewa, Awosu mu Nyarewa, Mmofra Nyarewa, Ntini mu Ntini mu Nyarewa, Ɔhome Ho Nsɛnnennen, Ntini mu Ntini mu Nhwehwɛmu