Oh, dɛn na ɛhaw me ba no? Sua Walker-Warburg Syndrome ho ade

Sɛ́ ɛna no, sɛ wɔwo wo ba kumaa no a ne ho yɛ nwonwa, onni nkwa, anaasɛ ne ho yɛ hare, anaasɛ nnuruyɛfo ka sɛ ɔhaw bi wɔ aniwa anaa amemene no nyin mu a, ɛsɛ sɛ wote awerɛhow ne ehu bɛn ara? Ɛtɔ mmere bi a nea ɛde eyi ba no betumi ayɛ awosu mu tebea bi a ɛntaa nsi koraa, nanso ɛyɛ aniberesɛm yiye, a ɛwɔ hɔ bere a wɔawo no. Ɛnnɛ yɛrebɛka yareɛ a ɛte saa baako ho asɛm, Walker-Warburg Syndrome.

Dɛn ne Walker-Warburg Yare no?

Sɛ yɛbɛka no tiawa a, Walker-Warburg Syndrome yɛ awosu mu yare a ɛka wo ba no nipadua mu ntini, titiriw amemene ne n’ani. Ɛka nyarewa kuw bi a wɔfrɛ no congenital muscular dystrophies ho, na efi ase wɔ awo anaa nkokoaabere mu na bere kɔ so no, ɛma ntini no yɛ mmerɛw nkakrankakra. Nokwarem no, tebea yi ma mmofra nya yare no ho sɛnkyerɛnne a ɛde wɔn nkwa to asiane mu, na awerɛhosɛm ne sɛ, ɛma wɔn nkwa nna yɛ tiaa. Ebia eyi bɛyɛ te sɛ nea ɛyɛ hu ma wo, nanso ɛho hia sɛ wuhu nea ɛyɛ.

Dɛn ne dystroglycanopathy? So abusuabɔ bi wɔ hɔ?

Ebia woate Walker-Warburg Syndrome a wɔfrɛ no Dystroglycanopathy . Mma ɛnhaw wo, mɛkyerɛkyerɛ mu.

Walker-Warburg yare no yɛ ntini mu yare bi a wɔde awo obi. Muscular dystrophy yɛ nyarewa kuw bi a ɛka abofra nipadua mu ntini. Wɔkyekyɛ ntini mu yare yi ahorow pii mu sɛ dystroglycanopathies. Ɛne sɛ, wɔfrɛ ntini a ɛyɛ mmerɛw a ɛnam sintɔ ahorow a ɛwɔ awosu mu nkwaadɔm a ɛma protein dystroglycan no mu ba no din yi. Wobu Walker-Warburg yare no sɛ ɛyɛ dystroglycanopathies kuw yi a emu yɛ den sen biara, anaasɛ emu yɛ den sen biara .

Saa tebea yi abu so dɛn? Hena na obetumi anya?

Walker-Warburg Syndrome yɛ yare a ɛntaa nsi koraa. Wɔ wiase nyinaa no, wobu akontaa sɛ mmofra a wɔawo wɔn foforo bɛyɛ 60,500 biara mu biako nya saa yare yi. Esiane sɛ efi awosu mu nsakrae nti, obiara betumi anya saa tebea yi. Eyi kyerɛ sɛ abusuakuw, nyamesom, ne nea ɛkeka ho mfa ho.

So me ba no betumi anya yare yi fi awo mu?

Yiw, wo ba betumi anya Walker-Warburg Syndrome no fi awo mu.Eyi ne sɛnea ɛba: Sɛ awofo baanu no nyinaa yɛ awosu mu nkwaadɔm a wɔayɛ no foforo a ɛde Walker-Warburg Syndrome ba no biako kurafo, a ɛkyerɛ sɛ wɔn baanu nyinaa wɔ awosu mu abɔde a asɛe no biako a, sɛ awofo baanu no nyinaa de awosu mu nkwaadɔm no ma abofra no bere a onyinsɛn no nkutoo a, na abofra no benya yare no. Wɔfrɛ saa agyapade ho nhyehyɛe yi autosomal recessive inheritance.

Imagine, if your child inherits only one copy of this mutated gene from one parent, the child will not show symptoms, but the child will be a carrier of the disease. Eyi kyerɛ sɛ daakye abofra no mma betumi anya asiane bi sɛ wobenya saa yare yi, sɛ ɔwofo foforo no nso yɛ ɔyarefo a.

Ɔkwan bɛn so na Walker-Warburg Syndrome ka me ba no nipadua?

Saa yare yi ka wo ba no nipadua mu ntini titiriw. Ebia wubehu nsakrae wɔ wo ba no ntini mu bere a wɔawo no ara pɛ. Ebia akokoaa no nipadua bɛyɛ nea ɛyɛ mmerɛw kɛse, te sɛ abofra a nkwa nnim , efisɛ ntini no mu ntini sua koraa. Ntini akyi no, saa tebea yi ka sɛnea wo ba no amemene ne n’aniwa nyin na ɛyɛ adwuma nso. Ebia wo ba no ntumi nhu ade yiye, n’anyin kyɛ, na n’adwene mu nyin. Nnuruyɛfo bɔ mmɔden sɛ wɔde ayaresa bedi saa sɛnkyerɛnne ahorow yi so na wɔasiw akokoaa no nkwa nna a ɛbɛtew so.

Dɛn ne Walker-Warburg Syndrome ho sɛnkyerɛnne ahorow?

Walker-Warburg Syndrome de sɛnkyerɛnne ahorow a ɛka wo ba no ntini, n’amemene, ne n’ani ba. Sɛnea sɛnkyerɛnne ahorow yi mu yɛ den no betumi ayɛ soronko. Wɔtaa hu wɔn wɔ awo mu anaa wɔ mmofraase. Nsɛnkyerɛnne ahorow bi betumi de nkwa ato asiane mu.

Nsɛnkyerɛnne a ɛfa ntini ho

Walker-Warburg yare no ho sɛnkyerɛnne ka ntini a wɔde di dwuma de kankyee wɔ abofra mu no.

• Sɛ wɔwo akokoaa a, ebia wɔbɛyɛ te sɛ nea "floppy" te sɛ doll a nkwa nnim esiane ntini a ɛba fam (hypotonia) nti . Eyi ma ɛyɛ den ma akokoaa no sɛ ɔbɛma ne ti, ne nsa, ne ne nan so.
• Saa tebea yi ma abofra no ntini yɛ mmerɛw nkakrankakra , a ɛkyerɛ sɛ bere kɔ so no, yare no ho sɛnkyerɛnne no mu yɛ den.
• Esiane sɛ akokoaa no ntini ntumi nyɛ adwuma yiye nti, ebetumi ayɛ den sɛ ɔbɛnom nufusu wɔ ne mmofraase . Ebia wɔrentumi nnom anaa wɔnmene yiye.

Nsɛnkyerɛnne a ɛfa amemene ho

Walker-Warburg Syndrome ka ɔkwan a wo ba no amemene fa so nyin. Nsɛnkyerɛnne a ɛfa amemene ho betumi ayɛ:

• Lissencephaly (amemene a ɛyɛ torotoro) yɛ tebea a ɛte sɛ nea amemene no wɔ akuru wɔ ne ani, a enni mpopaho anaa ntini a ɛte saa no. Ɔkwan foforo so no, ɛte sɛ nea amemene no ani yɛ torotoro.
• Nsu a ɛboaboa ano wɔ amemene no mu(Hydrocephalus - nsuo ti) Eyi betumi ama ti no ayɛ kɛse.
• Amemene no ntini ne amemene no mu ntini a ɛnyɛ ne kwan so nkɔso anaa tebea bi a wɔfrɛ no amemene mu ntini a ɛyɛ mmerɛw (Dandy-Walker malformation) .
• Seizures , kyerɛ sɛ, tebea horow a ɛte sɛ akisikuru.

Saa tebea horow yi a ɛka wo ba amemene no betumi ama wanyin akyɛ na wahyia nsɛnnennen wɔ n’adwene mu .

Nsɛnkyerɛnne a ɛfa aniwa ho

Walker-Warburg Syndrome betumi aka wo ba no aniwa nyin na ama wanya yare no ho sɛnkyerɛnne te sɛ:

• Aniwa nketewa (Microphthalmia) anaa aniwa akɛse (Buphthalmos) .
• Aniwa mu mununkum, a ɛkyerɛ sɛ aniwa no ahwehwɛ no adan fitaa (Cataracts) .
• Nkrasɛm a ɛnam aniwa ntini a ɛde nkrasɛm fi aniwa so kɔ amemene no mu no so a ɛkyɛ.
• Ɛyɛ den sɛ wubehu ade yiye (Aniwa a enhu ade yiye) .

Dɛn nti na ɛte saa? Dɛn nti na eyi rekɔ so?

Walker-Warburg Syndrome no fi awosu mu nsakrae bi mu . Wɔahu awosu mu nkwaadɔm bɛboro dumien a ɛde tebea no ba, na ebia pii wɔ hɔ a wonhuu bi. Awosu mu nsakrae atitiriw a ɛde yare no ba nnipa a wɔwɔ Walker-Warburg Syndrome nyinaa mu bɛboro fã mu no bi ne:

• `POMT1`
• `POMT2`
• `CRPPA` (kan no na wɔfrɛ no `ISPD`) .
• `FKTN`
• `FKRP`
• `KƐSEƐ1`
• `POMGNT1`
• `ISPD`
• `GTDC2`
• `DAG1`

Saa awosu mu nkwaadɔm yi siw asikre molecule ahorow a wɔde bɛka protein bi a wɔfrɛ no alpha-dystroglycan , adeyɛ a wɔfrɛ no glycosylation ho no kwan. Sɛ saa glycosylation nhyehyɛe yi ntumi nkɔ yiye a, akokoaa no ntini nhama ntumi nkura ne nhyehyɛe mu wɔ nipadua no mu. Saa protein ahorow yi nso ka ɔkwan a ntini mu nkwammoaa a ɛwɔ amemene no mu no fa so tu wɔ awotwaa no mu, na ɛno na ɛde amemene no tebea a wɔfrɛ no lissencephaly a yɛadi kan aka ho asɛm no ba.

Sɛ yɛbɛka no tiawa a, abofra a ɔwɔ Walker-Warburg Syndrome ntini mu yɛ den na ɛyɛ mmerɛw bere nyinaa. Bere kɔ so no, saa ntini ahorow yi sɛe na ɛyɛ mmerɛw ma entumi nyɛ adwuma bio.

Nea ɛka ho no, Walker-Warburg Syndrome sɛe ɔkwan a ntini ahorow fa so tu kwan wɔ abofra amemene mu. Mpɛn pii no, ɛsɛ sɛ ntini ahorow no gyae bere a wɔadu baabi a wɔrekɔ no. Nanso, ntini a ɛka no no nso tu kwan kɔ nsu a atwa abofra no amemene ho ahyia no mu. Eyi nya amemene no nkɔso so nkɛntɛnso kɛse.

Ɔkwan bɛn so na wohu sɛ obi anya Walker-Warburg Syndrome?

Ebia wo duruyɛfo befi ase ayɛ Walker-Warburg Syndrome ho nhwehwɛmu wɔ nyinsɛn a etwa to mu, na wɔasi so dua sɛ yare no wɔ hɔ bere a wɔawo akokoaa no akyi.

• Ultrasound scan bere a nyinsɛn betumi ahu sɛnkyerɛnne ahorow, titiriw nea ɛka akokoaa no amemene no.
• Sɛ wɔwo akokoaa no wie a, mfoninitwa nhwehwɛmu te sɛ CT scan ne MRI betumi ama akokoaa no amemene ho mfonini a emu da hɔ na wɔasusuw tebea no ho.

Nhwehwɛmu ahorow pii wɔ hɔ a wɔde si so dua sɛ obi anya Walker-Warburg Syndrome:

• Ntini mu ntini mu nhwehwɛmu yɛ sɔhwɛ a wɔde hwɛ sɛ abofra no ntini mu nhama no te apɔw anaa. Eyi hwehwɛ sɛ wɔfa ntini ketewaa bi na wɔhwehwɛ mu.
• Mogya mu nhwehwɛmu a wɔyɛ de hwɛ sɛnea Creatine Kinase (CK) dodow wɔ mogya no mu. CK yɛ enzyme bi a ɛkɔ mogya no mu bere a ntini mu ntini no asɛe no. CK dodow a ɛkɔ soro kyerɛ sɛ ntini asɛe.
• Aniwa mu nhwehwɛmu a wɔyɛ de hwɛ sɛ Walker-Warburg Syndrome ho sɛnkyerɛnne bi wɔ abofra no ani so anaa.
• Awosu mu mogya mu nhwehwɛmu a wɔyɛ de hu awosu mu nkwaadɔm a wɔayɛ no foforo a ɛde sɛnkyerɛnne ahorow no ba.

Dɛn ne ayaresa ahorow a wɔde sa eyi?

Nea ɛyɛ awerɛhow no, wonni Walker-Warburg Syndrome aduru biara. Enti, ayaresa no atirimpɔw titiriw ne sɛ wɔbɛma yare no ho sɛnkyerɛnne ahorow no afi hɔ. Ayaresa a wobetumi apaw no betumi ayɛ soronko ama abofra biara a wɔahu sɛ ɔwɔ yare no, a egyina abofra no tebea so. Ebia ayaresa a wobetumi apaw bi ne:

• Oprehyɛn a wɔyɛ de yi nsu a ɛboro so fi amemene no mu (hydrocephalus).
• Nnuru a wɔde ma de siw akisikuru ano.
• Apɔw-mu-teɛteɛ a wɔde bɛma ntini ahoɔden atu mpɔn.
• Sɛ ɛyɛ den ma wo sɛ wubedidi a, sɛ wode afiri a wɔde ma aduan bɛhyɛ mu a, ebetumi aboa wo.

Botae a ɛwɔ Walker-Warburg Syndrome ayaresa mu ne sɛ wobesiw sɛnkyerɛnne ahorow a ɛde ne nkwa to asiane mu ano na aboa ma abofra no nkwa nna akɔ soro.

So ɔkwan bi wɔ hɔ a wɔbɛfa so asiw Walker-Warburg Syndrome ano?

Walker-Warburg Syndrome yɛ awosu mu yare, enti ɔkwan biara nni hɔ a wɔbɛfa so asiw ano. Sɛ woreyɛ nhyehyɛe sɛ wubenyinsɛn na wopɛ sɛ wuhu asiane a ɛwɔ hɔ sɛ wobɛwo abofra a ɔwɔ awosu mu yare bi a, ɛbɛyɛ papa sɛ wo ne wo duruyɛfo bɛkasa afa awosu mu nhwehwɛmu anaa awosu mu afotu ho .

Sɛ me ba wɔ saa yare yi a, dɛn na ɛsɛ sɛ mehwɛ kwan?

Walker-Warburg Syndrome yɛ yare a ɛkɔ so nya nkɔso. Eyi kyerɛ sɛ ebia mfiase no sɛnkyerɛnne no nyɛ den, nanso bere kɔ so no, ɛyɛ kɛse. Ebia eyi bɛyɛ te sɛ nea ɛyɛ awerɛhow kɛse, nanso nkokoaa a wɔwɔ saa tebea yi taa nkwa nna tiaa , mpɛn pii no kosi wɔn mmofraase nkutoo. Wo ba no oduruyɛfo bɛma no ayaresa de asiw sɛnkyerɛnne ahorow a ɛde ne nkwa to asiane mu ano na ama wo ba no nkwa nna akyɛ. Kae sɛ, yare yi ano aduru biara nni hɔ.

Bere a wɔahu sɛ wo ba no anya yare no, ɛho hia sɛ wohwɛ wo ho. Ebetumi aboa wo ne w’abusua sɛ wo ne awosu ho ɔfotufo bi bɛkasa na waboa wo ma woate wo ba no yare a wohu ne ayaresa a wobetumi apaw ase na woagyina ano. Adwene mu akwahosan ho ɔbenfo nso betumi aboa wo ma woasiesie wo ho ama adehwere mpofirim a ɛba bere a wohu sɛ wo ba no anya yare no na woagyina ano. Awerɛhowdi ne mmoa akuw betumi ayɛ awerɛkyekye fibea kɛse ama mmusua wɔ saa mmere a emu yɛ den yi mu.

Bere bɛn na ɛsɛ sɛ mede me ba no kɔ oduruyɛfo nkyɛn?

Sɛ wo ba da Walker-Warburg Syndrome ho sɛnkyerɛnne adi, titiriw sɛ ontumi nnidi , frɛ wo ba no oduruyɛfo ntɛm ara. Afei nso, ma wo duruyɛfo nhu sɛ wo ba no yare no ho sɛnkyerɛnne san ba mpofirim anaasɛ ɛyɛ kɛse a , sɛ ayaresa no tumi ma yare no ho sɛnkyerɛnne no fi hɔ mpo a.

Wo ba no wɔ asiane mu sɛ obenya akisikuru . Sɛ wuhu sɛ wo ba no ntumi nhu no bere tiaa bi, ɔrewosow anaasɛ ɔrekeka ne ho a ontumi nni ne ho so, anaasɛ ɛte sɛ nea n’adwene atu afra, ehu aka no, anaasɛ ne ho ntɔ no a, kɔ ayaresabea dan a wɔhwɛ wɔn a wɔwɔ ayaresa a egye ntɛmpɛ mu ntɛm ara.

Nsɛm bɛn na ɛsɛ sɛ mibisa me ba oduruyɛfo?

Ebia wubenya nsɛmmisa pii wɔ saa bere a emu yɛ den yi mu. Bɔ mmɔden sɛ wubebisa wo ba oduruyɛfo nsɛm yi:

• So ɛsɛ sɛ wɔyɛ me ba oprehyɛn?
• Dɛn ne ayaresa ahorow no mu nsunsuanso bɔne?
• Sɛ me ba no nya akisikuru a, dɛn na meyɛ?
• Mpɛn ahe na ɛsɛ sɛ mede me ba ba ma wɔkɔhwɛ sɛnea ɔte yiye?

Sɛ wuhu sɛ wo ba a wɔawo no foforo no wɔ awosu mu tebea bi a ɛremma wontumi ntra ase a edi mũ a, ebetumi ayɛ osuahu a ɛyɛ awerɛhow kɛse. Esiane sɛ wo duruyɛfo hu yare a ɛyɛ den yi nti, ɔbɛma wo ayaresa de asiw yare no ho sɛnkyerɛnne a ɛde ne nkwa to asiane mu ano na ama wo ba no nkwa nna akyɛ. Wo ba no yare a wobehu no betumi ayɛ nkate kɛse ama wo ne w’abusua, enti hwɛ hu sɛ wubenya mmoa a wuhia. Nnipa pii hu sɛ awosu mu afotu boa wɔn ma wosua pii fa sɛnea wɔbɛhwɛ wɔn ba no ho. Adwene mu akwahosan ho ɔbenfo betumi aboa wo ma woadi adwennwen ho dwuma, asiesie wo ho ama adehwere a wonhwɛ kwan na woagyina ano. Sɛ wuhia mmoa a, wo ne wo duruyɛfo nkasa na boa wo.

Nsɛm a Wɔaboaboa Ano: Nkrasɛm a Wɔde Kɔ Fie

• Walker-Warburg Syndrome yɛ awosu mu yare a ɛntaa nsi nanso emu yɛ den yiye.
• Eyi ka abofra no ntini, n’amemene, ne n’ani titiriw .
• Nsɛnkyerɛnne no bi ne ntini a ɛyɛ mmerɛw (akokoaa a ne ho yɛ floppy), amemene a ɛnyɛ adwuma yiye (lissencephaly, hydrocephalus), akisikuru, ne aniwa mu haw .
• Eyi fi awosu mu sintɔ bi a wonya fii awofo baanu no nyinaa hɔ .
• Ɛwom sɛ wonni aduru biara de, nanso ayaresa ahorow wɔ hɔ a wɔde siw yare no ho sɛnkyerɛnne ahorow so na ɛma nkwa nna yɛ kɛse .
• Ɛho hia yiye sɛ awofo ne mmusua kɔ so yɛ den wɔ adwene mu na wonya mmoa a ɛho hia wɔ bere a emu yɛ den saa mu. Awosu mu afotu ne adwenemyare ho mmoa bɛboa wɔ eyi mu.

Mewɔ anidaso sɛ saa nsɛm yi aboa wo ma woanya tebea a ɛntaa nsi yi ho ntease bi. Kae sɛ ɛnyɛ wo nko ara, na nnuruyɛfo ne afotufo ayɛ krado sɛ wɔbɛboa wo.

` Walker-Warburg syndrome, awosu mu nyarewa, ntini mu mmerɛwyɛ, amemene mu yare, aniwa mu nyarewa, awo mu ntini mu yare, mmofra akwahosan