So wo kɔn ne w’akyi yɛ wo yaw bere nyinaa? Ebetumi ayɛ Klippel-Feil Syndrome (KFS)!

So ɛtɔ mmere bi a ɛyɛ den ma wo sɛ wobɛdan wo kɔn? Anaasɛ ɛte sɛ nea wo kɔn yɛ tiaa kakra? Ebia woahu nsakrae a ɛte saa ara wɔ wo ba kɔn mu. Ɛwom sɛ nneɛma pii nti na eyi ba de, nanso ɛnnɛ yɛbɛka tebea bi a ɛntaa nsi nanso ɛho hia a wɔfrɛ no Klippel-Feil Syndrome (KFS) ho asɛm. Mma ɛnhaw wo, yɛbɛma ayɛ mmerɛw.

Enti, dɛn ne Klippel-Feil Syndrome (KFS)?

Sɛ yɛbɛka no tiawa a, Klippel-Feil Syndrome (KFS) yɛ tebea a ɛma yɛn kɔn mu akyi berɛmo abien anaa nea ɛboro saa, anaa akyi berɛmo mu nkwaa, bom yɛ dompe biako. Eyi yɛ tebea a wonya fi awo mu. Mpɛn pii no, baabi ketewaa bi da akyi berɛmo a ɛwɔ yɛn kɔn mu (a wɔsan frɛ no `(cervical vertebrae)`) ntam, a afã horow a ɛte sɛ jelly a wɔfrɛ no `(intervertebral discs)` ahyɛ mu ma. Eyinom na ɛma ɛyɛ mmerɛw sɛ yɛbɛdan yɛn kɔn akɔ anim ne akyi. Nanso, wɔ obi a ɔwɔ KFS fam no, saa akyi berɛmo yi ka bom, na ebetumi ama ne kɔn no ntumi nkɔ baabiara.

Akyi berɛmo 33 na ɛwɔ yɛn akyi berɛmo mu. Akyi berɛmo 7 a ɛwɔ soro no wɔ kɔn no mu (C1 kosi C7). Wɔ KFS mu no, akyi berɛmo abien a ɛtaa ka no ne C2 ne C3. Nanso, ɛtɔ mmere bi a, tebea no betumi aka akyi berɛmo afoforo a ɛwɔ akyi berɛmo a ɛwɔ kɔn no ase no.

Wɔde nnuruyɛfo baanu a wodii kan huu tebea no din too ɔyare no din Klippel-Feil Syndrome.

KFS no mu nneɛma atitiriw abiɛsa na ɛwɔ hɔ (eyinom betumi ayɛ biako, abien, anaa ne nyinaa, anaasɛ ebia emu biara nni hɔ koraa):

• Ɛyɛ den sɛ wobɛdan kɔn no esiane akyi berɛmo a ɛwɔ kɔn no mu a ɛbata ho nti.
• Kɔn tiaa a ɛte sɛ nea ɛte.
• Nwi a ɛwɔ ti no akyi no, si baabi a ɛba fam sen sɛnea ɛte daa.

Ɛnyɛ kɔn mu nkutoo na tebea yi wɔ. Ɛtɔ mmere bi nso a, ebetumi aka koma, ahurututu, asaabo, ano, aniwa, aso, ntini, ntini, akyi berɛmo, ne nnompe afoforo.

Klippel-Feil Syndrome (KFS) abu so dɛn?

KFS yɛ tebea a ɛntaa nsi ankasa. Ɛka mmofra a wɔawo wɔn foforo bɛyɛ 40,000 kosi 42,000 biara mu biako wɔ wiase nyinaa. Wɔkyerɛ nso sɛ ɛtaa ba mmeawa mu kakra.

Mɛyɛ dɛn ahu sɛ me ba no wɔ Klippel-Feil Syndrome (KFS) anaa?

Ɛtɔ mmere bi a, egyina sɛnea tebea no mu yɛ den so no, wobetumi ahu bere a wɔreyɛ ultrasound scan wɔ nyinsɛn no fã a edi kan no mu. Anaasɛ, sɛ sɛnkyerɛnne biara nni hɔ a ɛda adi pefee wɔ awo mu, wɔ nkokoaabere mu, anaa mmofraase a, wobetumi ahu wɔ mpanyin afe so anaa akyiri yi. Nanso, esiane sɛnea yare no ho sɛnkyerɛnne ahorow ne ɔhaw afoforo a ebetumi aka tebea yi ho nti, ɛntaa nsi sɛ wobehu kosi akyiri yi.

Dɛn ne Klippel-Feil Syndrome (KFS) ho sɛnkyerɛnne ahorow?

Nea ɛyɛ nwonwa no, ebia nnipa binom a wɔwɔ KFS no nni sɛnkyerɛnne biara koraa, anaasɛ sɛnkyerɛnne a emu nyɛ den koraa nkutoo. Nanso, nnipa pii nya yare no ho sɛnkyerɛnne.Bere a eyinom betumi aka nnipa binom brɛoo koraa no, ebetumi aka afoforo kɛse. Eyi kyerɛ sɛ yare no ho sɛnkyerɛnne betumi ayɛ soronko wɔ onipa biara ho.

Eyinom ne sɛnkyerɛnne ahorow a wɔtaa hu a wɔtaa hu:

• Ɛyɛ den sɛ wobɛdan kɔn: Eyi ne nipadua mu sɛnkyerɛnne a ɛtaa ba. Ɛba efisɛ akyi berɛmo a ɛwɔ kɔn no mu biako anaa nea ɛboro saa abata ho.
• Nwi a ɛwɔ ti no akyi, wɔ ase hɔ.
• Kɔn tiaa a ɛte sɛ nea ɛte.
• Nsonsonoe a ɛwɔ anim afã horow no kɛse ne ne nsusuwii mu.
• Akyi berɛmo a ɛwɔ kɔn a ɛwɔ soro a ɛne ti nhwi no di nkitaho no a entumi nnyina. Eyi betumi ayɛ asiane kɛse, titiriw sɛ woapira wɔ akwanhyia, kar akwanhyia, anaa agumadi te sɛ rugby anaa bɔɔlbɔ mu a.
• Scoliosis: Wotumi hu eyi wɔ nsɛm no mu ɔha biara mu nkyem 30 kosi 50 mu.
• Tipaeɛ.
• Asotiw: Eyi betumi aka nnipa bɛyɛ ɔha biara mu nkyem 30.
• Ɛyɛ den sɛ wobɛdan akyi atifi.
• Ntini mu ɛyaw a ɛhyerɛn kɔ nsa anaa nan so.
• Ntini mu yaw wɔ kɔn ne/anaasɛ akyi.
• Ntini a ɛwɔ kɔn anaa akyi a ɛsɛe.
• Akyi berɛmo mu kwan a ɛyɛ teateaa (akyi berɛmo mu ntini a ɛyɛ den): Eyi betumi asɛe akyi berɛmo no.
• Asaabo mu yare: Eyi betumi aka nnipa bɛyɛ ɔha biara mu nkyem 30.

Nea ɛka ho no, ɔhaw afoforo betumi asɔre:

• Aso a ɛyɛ mmerɛw anaa asotiw.
• Anom a apaapae anaasɛ anom a ɛnyɛ ne kwan so.
• Awo nhyehyɛe, nsu a ɛkɔ nipadua no mu, koma, ahurututu, mpampam a ɛyɛ mmerɛw, akwaa a ɛyɛ mmerɛw.
• Nhama a ɛwɔ kɔn no atifi a ɛka ti nhwi no bom no a ɛyɛ mmerɛw. Eyi betumi ama akyi berɛmo no ayɛ den na asɛe ntini ahorow no bere a kɔn no tu no.

Dɛn na ɛde Klippel-Feil Syndrome (KFS) ba?

Nhwehwɛmufo da so ara nte nea ɛde KFS ba ankasa ase yiye. Mpɛn pii no, wobu no sɛ ɛyɛ nea ɛba bere ne bere mu. Ɛne sɛ, ebetumi aba a abusua abakɔsɛm nni tebea no ho anaasɛ enni awosu mu ade a emu da hɔ a ɛde ba.

Nanso, wɔ tebea horow bi mu no, nsakrae (nsakrae) a ɛba awosu mu nkwaadɔm biako anaa nea ɛboro saa a ɛka nnompe ne akyi berɛmo nyin mu no betumi de tebea yi aba.

Ɛtɔ mmere bi a KFS tumi ne aduruyɛ mu tebea afoforo bom ba, anaasɛ sɛ yare foforo a wɔde wo awo mu nsunsuanso bɔne. KFS ba sɛ yare foforo bi a ɛde ba, esiane nsakrae (`(mutations)`) a ɛba awosu mu nkwaadɔm a ɛbata saa nyarewa no ho no mu nti.

Tebea horow a ebetumi abata KFS ho no bi ne:

• Nsã a wɔnom bere a wɔyem no betumi de ntini a ɛwɔ nipadua no mfinimfini no mu haw ne ɔhaw afoforo aba (`(fetal alcohol syndrome)`).
• Tebea a ɛma aniwa, aso, ne akyi berɛmo nyin wɔ ɔkwan a ɛnteɛ so (`(Goldenhar syndrome)`).
• Mmati dompe no nkɔso a ɛnteɛ (`(Sprengel deformity)`).
• Aniwa a ɛkeka ne ho a ɛnyɛ ne kwan so (`(Duane syndrome)`).
• Asaabo biako anaa abien no nyinaa a enni hɔ (renal agenesis).
• Tebea a ɛma aniwa, aso, ne akyi berɛmo a ɛwɔ kɔn mu no nyin wɔ ɔkwan a ɛnteɛ so (`(Wildervanck syndrome)`).
• Ntini a ɛwɔ mfinimfini no mu nneɛma a ɛnteɛ (sɛ nhwɛso no, tebea horow te sɛ Chiari malformation, spina bifida, ne syringomyelia).

So Klippel-Feil Syndrome (KFS) fi awosu mu?

Mpɛn pii no, KFS nyɛ awosu. Nanso, sɛnea yɛadi kan aka no, wɔ tebea horow bi mu no, nsakrae (`(nsakrae)`) a ɛba awosu mu nkwaadɔm abiɛsa a wɔakyerɛ no mu biako anaa nea ɛboro saa mu no betumi de tebea no aba. Sɛ awosu mu ade a ɛte saa wɔ hɔ a, wobetumi anya KFS nso fi awo mu.

Ɔkwan bɛn so na wohu sɛ obi anya Klippel-Feil Syndrome (KFS)?

Oduruyɛfo bi begyina wo sɛnkyerɛnne ahorow, ayaresabea nhwehwɛmu, ne mfoniniyɛ mu nhwehwɛmu ahorow so ahu KFS. Wɔtaa hu tebea no wɔ mmofraase. Ɛtɔ da bi a, wobetumi ahu no ntɛm ara wɔ awotwaa mu.

Wo duruyɛfo bebisa w’ayaresa ho abakɔsɛm ne w’abusua abakɔsɛm ho asɛm. Afei wɔbɛyɛ nipadua mu nhwehwɛmu. Wɔ sɔhwɛ yi mu no:

• W’anim, wo kɔn (sɛ wobɛhwɛ sɛ ɛyɛ tiaa anaa), w’akyi berɛmo a aka, ne wo ti nhwi (sɛ wobɛhwɛ sɛ ɛba fam wɔ wo ti akyi anaa).
• Wɔhwehwɛ sɛnkyerɛnne ahorow a ɛkyerɛ sɛ awotwaa mu ntini bi a wɔahyɛ no den (radiculopathy) anaasɛ akyi berɛmo no asɛe (myelopathy).
• Sɔ reflexes a akyi berɛmo ne ntini afoforo di so hwɛ.
• Wɔbɛhwɛ sɛnea wo nantew.
• Wotie wɔn koko ne wɔn yafunu na wɔde wɔn nsa te nka.

Nhwehwɛmu bɛn na wɔyɛ de hu tebea yi?

Nhwehwɛmu pɔtee biara nni hɔ a wɔbɛyɛ wɔ lab a wɔde hu KFS. Nanso, sɛ wowɔ sɛnkyerɛnne ahorow pii a, wo duruyɛfo betumi ahyɛ sɛ wɔnyɛ mogya mu nhwehwɛmu na wɔayi tebea afoforo afi hɔ. Ebia wɔbɛhwɛ nso sɛ ebia nneɛma bi a ɛnteɛ wɔ wo koma, w’asaabo, wo yafunu mu, ne wo nsu mu. Ebia wɔbɛma wo aso mu sɔhwɛ nso. Ebia wo duruyɛfo nso ne wo bɛkasa afa awosu mu nhwehwɛmu ho.

Akyi berɛmo mu Mfoniniyɛ Sɔhwɛ

Ɛho behia sɛ wo duruyɛfo no yɛ X-ray . Wobetumi nso akra sɛ wɔnyɛ CT scan (Computed Tomography scan) anaa MRI scan (Magnetic Resonance Imaging) .

• X-ray: Wobetumi ahwɛ akyi berɛmo no nyinaa mu ahwɛ sɛ ebia akyi berɛmo no afrafra anaa, sɛ akyi berɛmo no atutu, sɛnea akyi berɛmo no gyina pintinn, ne sɛ ebia nneɛma foforo bi a ɛnteɛ wɔ hɔ anaa.
• CT mfonini (`(CT mfonini)`):Wubetumi ahwɛ sɛnea akyi berɛmo ne akyi berɛmo a wɔaka abom no te kɔ akyiri.
• MRI scan: Saa scan yi boa ma wohu ntini a ɛyɛ mmerɛw te sɛ akyi berɛmo, diski ahorow a ɛda akyi berɛmo, ntini ntini, ne ntini a ɛwɔ akyi berɛmo no ntam no pefee, na ɛma wohu nneɛma a ɛnteɛ wɔ nipadua no afã afoforo.

Ɔkwan bɛn so na wɔsa Klippel-Feil Syndrome (KFS)?

Ayaresa no gyina wo sɛnkyerɛnne ahorow so. Ebia wubehia nnuru ne/anaasɛ nipadua mu ayaresa. Ɛsɛ sɛ wuhu asiane a ɛwɔ akwanhyia mu na wokwati dwumadi ahorow a asiane wom. Ɛnyɛ obiara a ɔwɔ KFS na ɛsɛ sɛ wɔyɛ no oprehyɛn.

Ayaresa ne nnuru a wɔde di dwuma wɔ ɔkwan a ɛkɔ akyiri so

Nnipa pii a enhia oprehyɛn no yɛ yiye wɔ ayaresa a ɛnyɛ den te sɛ awotwaa mu kɔla, awotwaa mu kɔla, ne twetwe mu. Ebia wo duruyɛfo nso bɛkyerɛw nnuru a ɛbɛma ɛyaw ne ɔfe so atew.

Oprehyɛn (`(Oprehyɛn)`) .

Ɛda adi sɛ wubehia oprehyɛn sɛ:

• Sɛ ɔhaw bi wɔ wo ntini ahorow mu, kyerɛ sɛ, w’amemene, w’akyi berɛmo, ne w’akyi berɛmo mu.
• Sɛ wowɔ dɛmdi anaasɛ entumi nnyina wɔ w’akyi berɛmo mu a.
• Sɛ wowɔ ntini foforo a ɛyɛ mmerɛw a, eyi betumi ayɛ biribi a anibere wom a ɛfa w’akyi berɛmo anaa w’akyi berɛmo ho ho sɛnkyerɛnne.
• Sɛ nneɛma bi a ɛnteɛ wɔ akwaa afoforo mu a.

Sɛ wowɔ akyi berɛmo biako anaa nea ɛboro saa wɔ wo kɔn mu wɔ C3 akyi berɛmo no ase (kyerɛ sɛ, ɛwɔ C1 ne C2 akyi berɛmo a ɛbɛn ti nhwi no ase) a, ebia ɛbɛdɔɔso sɛ wobɛkɔ akɔhwɛ wo daa kɛkɛ na woahwɛ tebea no so. Sɛ wo anaa wo ba di agumadi a wɔde di nkitaho te sɛ hockey anaa rugby a, ebia wo duruyɛfo bɛkamfo akyerɛ sɛ kɔ so di saa agumadi no bere a woasua sɛnea wobɛbɔ wo kɔn ho ban awie no.

Nanso, sɛ wowɔ akyi berɛmo a wɔaka abom wɔ C3 akyi berɛmo no atifi wɔ wo kɔn mu (i.e. ɛbɛn ti nhwi no) a, akyinnye biara nni ho sɛ ɛsɛ sɛ wokwati agumadi a ɛwɔ nkɛntɛnso kɛse, efisɛ wowɔ asiane kɛse mu sɛ wubenya akyi berɛmo mu opira a ɛyɛ hu.

Wo duruyɛfo bɛhwɛ wo koma, w’ahurututu, awo nhyehyɛe, w’asaabo, ne akwaa afoforo daa sɛnea ɛbɛyɛ a obetumi ahu ɔhaw biara ntɛm na wadi nsakrae no ho dwuma anaa wasa, anaasɛ ɔbɛkamfo oprehyɛn biara a ɛho hia akyerɛ.

So Klippel-Feil Syndrome (KFS) betumi asɛe bere a bere kɔ so no?

Yiw, bere kɔ so no, Klippel-Feil Syndrome (KFS) betumi asɛe kɛse. Sɛ wowɔ biribi a ɛnteɛ wɔ w’akyi berɛmo mu a, ɛda adi sɛ wubenya ɔhaw bere a worenyin no. Sɛ nhwɛso no, degenerative disc ho nsɛm betumi ama ntini ahorow no ayɛ den, akyi ne akyi berɛmo mu ayɛ no yaw, anaasɛ akwaa akwaa ayɛ mmerɛw.

Ɛda adi nso sɛ wubepira esiane ahwease ne nneɛma afoforo a ɛde ba wo nipadua so nti. Bere kɔ so no, emu ɔhaw afoforo betumi aba. Ɛno nti na ɛho hia kɛse sɛ wo ne w’aduruyɛfo kuw no hyia daa no. Wɔbɛhwehwɛ wo mu, ayɛ nhwehwɛmu biara a ɛho hia, na wɔasi w’ayaresa no ho gyinae anaasɛ wɔbɛsesa.

So Klippel-Feil Syndrome (KFS) ka nkwa nna?

Klippel-Feil Syndrome (KFS) a wobehu ntɛm no yɛ ade titiriw. Ɛno ne bere a wobetumi de oprehyɛn, akwan a ɛnyɛ oprehyɛn, anaasɛ ahwɛyiye a wɔde hwɛ akwahosan ho haw ahorow ho dwuma bere a bere kɔ so no. Sɛ wosa nneɛma a ɛnteɛ no na wudi wo duruyɛfo afotu akyi de bɔ w’akyi berɛmo ho ban a, mpɛn pii no wubetumi atra ase sɛnea ɛsɛ.

Daakye bɛn na obi a ɔwɔ Klippel-Feil Syndrome (KFS) betumi ahwɛ kwan?

Nea ebefi mu aba no begyina yare ko a wowɔ (wo nipadua no afã horow a ɛka) ne tebea foforo biara a ebia wowɔ so. Ɛsono obiara. Wo nnuruyɛfo kuw no bɛka wo tebea no ho asɛm akyerɛ wo wɔ nsrahwɛ a wokɔ hɔ daa no mu. Ebia nnipa binom rennya yare no ho sɛnkyerɛnne biara koraa, bere a afoforo nso betumi anya yare no ho sɛnkyerɛnne a ɛho hia a ɛtew wɔn asetra mu yiyedi so.

Wo nnuruyɛfo bɛkasa akyerɛ wo sɛ ebia ɛsɛ sɛ woyɛ biribi de bɔ w’akyi berɛmo ho ban, sɛ ebia wubetumi adi agumadi a ɛkanyan wo kɛse, anaasɛ ɛsɛ sɛ woyɛ nsakrae afoforo wɔ w’asetra mu. Wɔbɛka hia a ehia sɛ wɔyɛ oprehyɛn nso ho asɛm.

Henanom ne akwahosan ho adwumayɛfo a wobetumi de wɔn ho ahyɛ me hwɛ mu?

Akwahosan ho adwumayɛfo ahorow wɔ hɔ a ebia wɔde wɔn ho bɛhyɛ wo hwɛ mu. Nea ɛka ho ne:

• Nea ɔde ma wo daa no.
• Mmofra anaa nipadua mu aduruyɛ ho ɔbenfo.
• Ntini ho ɔbenfo bi.
• Ntini mu Oprehyɛn ho Ɔbenfo.
• Oduruyɛfo a ɔyɛ nnompe ho oprehyɛn.
• Oduruyɛfo a ɔyɛ anom ne anim oprehyɛn.
• Koma ho ɔyaresafo.
• Yafunu mu yafunu ho oduruyɛfo yɛ oduruyɛfo a ne ho akokwaw wɔ aduan a wɔyam no mu.
• Asaabo ho ɔbenfo (Nephrologist).
• Aso, hwene, ne menewa ho ɔbenfo (Otolaryngologist).
• Oduruyɛfo a ɔyɛ aso ho ɔbenfo.
• Ɛyaw ano aduru ho ɔbenfo.
• Apɔw-mu-teɛteɛ ho ɔbenfo.

Nea etwa to no, nneɛma a ɛsɛ sɛ wokae (Take-Home Message) .

Klippel-Feil Syndrome (KFS) yɛ akyi berɛmo mu yare a ɛntaa nsi a akyi berɛmo abien anaa nea ɛboro saa a ɛwɔ kɔn no mu no bom.Saa tebea yi betumi de ɔhaw afoforo pii aba akyi berɛmo no mu, na ebetumi aka nipadua no afã afoforo nso.

Nanso, ɛnyɛ obiara na ɔyɛ pɛ. Ebia wowɔ KFS a emu nyɛ den, a enni sɛnkyerɛnne titiriw biara. Anaasɛ, ebia wowɔ akwahosan ho haw ahorow a emu yɛ den kɛse a ɛhwehwɛ sɛ wodi ho dwuma bere tenten. Mma ɛnhaw wo, wo kuw a wɔyɛ animdefo no bɛka wo ho wɔ anammɔn biara a wobɛtu.

Nea ɛho hia paa ne sɛ wubehu yare no ntɛm, anya ayaresa a ɛfata, na woadi wo duruyɛfo akwankyerɛ akyi. Afei, mpɛn pii no, wubetumi atra ase sɛnea ɛsɛ, na anigye wom. Sɛ wowɔ nsɛmmisa anaa adwenem naayɛ bi a, mma w’ani nnye ho sɛ wubebisa wo duruyɛfo. Wɔwɔ hɔ sɛ wɔbɛboa wo.

` Klippel-Feil syndrome, KFS, kɔn mu yaw, akyi berɛmo mu nyarewa, akyi berɛmo a ɛbata ho, awo mu yare, kɔn a ɛyɛ den, akyi berɛmo a ɛyɛ fusion