Oh, mun de bɛ ne den na? Aw ye kunnafoni sɔrɔ Walker-Warburg Syndrome kan

I n’a fɔ denba, i ka kan ka dusukasi ni siran cogo di ni i denmisɛnnin wolola ni ɲɛda cogoya kabakoma ye, ni ɲɛnamaya tɛ a la, walima ni a bɛ sɔgɔsɔgɔ, walima ni dɔgɔtɔrɔw y’a fɔ ko gɛlɛya bɛ ɲɛw walima a kunkolo yiriwali la? Tuma dɔw la, o sababu bɛ se ka kɛ bana ye min man ca kosɛbɛ, nka a ka jugu kosɛbɛ, bana min bɛ sɔrɔ jiginni na. Bi an bɛna kuma o bana sugu dɔ kan, n’o ye Walker-Warburg Syndrome ye.

Walker-Warburg ka bana ye mun ye?

N’an y’a fɔ cogo nɔgɔman na, Walker-Warburg Syndrome ye bana ye min bɛ sɔrɔ jamu fɛ, min bɛ nɔ bila den farikolo farikolo yɔrɔw la, kɛrɛnkɛrɛnnenya la a kunsɛmɛ ni a ɲɛw. A bɛ bana kulu dɔ la min bɛ wele ko farikolojidɛsɛ bangenenw, olu bɛ daminɛ bange waati walima denmisɛnni na, ka fasaw fanga dɔgɔya dɔɔni dɔɔni waati tɛmɛnen kɔfɛ. Tiɲɛ na, nin bana in bɛ kɛ sababu ye ka denmisɛnw ka ɲɛnamaya bila farati la, wa, a ka c’a la, a bɛ u si hakɛ surunya. O bɛ se ka kɛ siranfɛn ye i bolo, nka a nafa ka bon i k’a dɔn o ye min ye.

Distroglycanopathie ye mun ye? Yala jɛɲɔgɔnya bɛ yen wa?

N’a sɔrɔ aw ye Walker-Warburg Syndrome mɛn min bɛ wele ko Dystroglycanopathie . Aw kana aw hakili ɲagami, ne bɛna o ɲɛfɔ.

Walker-Warburg ka bana ye farikolojidɛsɛ suguya dɔ ye min bɛ sɔrɔ bangekɔlɔsi fɛ. Muscular dystrophy ye bana kulu dɔ ye min bɛ den farikolo fasaw degun. Nin farikolojidɛsɛ suguya caman bɛ jate distroglycanopathies ye. O kɔrɔ ye ko farikolo-ɲɛnajɛ minnu bɛ sɔrɔ farikolo-ɲɛnajɛ-minɛnw nafamabɔli fɛ minnu bɛ distroglycan (poroteyini distroglycan) dilan, olu bɛ wele nin tɔgɔ in na. Walker-Warburg ka bana bɛ jate nin distroglycanopathies kulu suguya ye min ka jugu kosɛbɛ, walima min ka jugu kosɛbɛ .

Nin bana in ka ca cogo di? Jɔn bɛ se k’a sɔrɔ?

Walker-Warburg Syndrome ye bana ye min man ca kosɛbɛ. Diɲɛ kɔnɔ, a jateminɛna ko den kura 60 500 o 60 500, kelen ɲɔgɔn bɛ tɔɔrɔ o bana in fɛ. Ikomi o bɛ bɔ jamu caman cili la, mɔgɔ o mɔgɔ bɛ se ka nin bana in sɔrɔ. O kɔrɔ ye ko siya, diinɛ, a ɲɔgɔnnaw tɛ bɛn.

Yala ne den bɛ se ka nin bana in ciyɛn ta wa?

Ɔwɔ, aw den bɛ se ka Walker-Warburg Syndrome ciyɛn ta.A bɛ kɛ nin cogo in na: Ni bangebaga fila bɛɛ ye jɛnɛya camanba dɔ tabaga ye min bɛ Walker-Warburg Syndrome bila mɔgɔ la, o kɔrɔ ye ko u fila bɛɛ bɛ ni jamu nafama kopi kelen ye, den bɛna bana in sɔrɔ dɔrɔn ni bangebaga fila bɛɛ ye jamu di den ma kɔnɔmaya waati. O ciyɛn cogoya in bɛ Weele ko ciyɛn otosomali kɔsegin .

Miiri k’a filɛ, ni aw den ye nin jamu fɛnɲɛnamafagalan in kopi kelen dɔrɔn de ciyɛn ta bangebaga kelen fɛ, den tɛna taamasiɲɛw jira, nka den bɛna kɛ bana in tabaga ye . O kɔrɔ ye ko den denw bɛ se ka bana in sɔrɔ don nataw la, ni bangebaga tɔ kelen fana ye bana in tabaga ye.

Walker-Warburg Syndrome bɛ nɔ bila ne den farikolo la cogo di?

Nin bana in bɛ nɔ bila den farikolo fasaw de la kosɛbɛ. Aw bɛ se ka fɛn dɔw kɔlɔsi aw den fasaw la a bangera dɔrɔn. Den fari bɛ se ka kɛ fɛn ye min bɛ sɔgɔsɔgɔ kosɛbɛ, i n’a fɔ pupo ɲɛnama tɛ min na , barisa a farikolo fanga ka dɔgɔn kosɛbɛ. Ka fara fasaw kan, nin bana in bɛ nɔ bila den kunsɛmɛ ni a ɲɛw yiriwacogo n’a baaracogo fana na. A bɛ se ka kɛ ko yeli gɛlɛya bɛ den na, a ka yiriwali bɛ se ka mɛn, ani a bɛ se ka kɛ ni hakili yiriwali gɛlɛyaw ye. Dɔgɔtɔrɔw b’a ɲini ka nin taamasiɲɛ ninnu kunbɛn ni furakɛli ye ani ka den bali ka a si hakɛ surunya.

Walker-Warburg ka bana taamasiɲɛw ye jumɛnw ye?

Walker-Warburg Syndrome bɛ taamasiɲɛw lase den ma minnu bɛ nɔ bila den fasaw, a kunkolo ani a ɲɛw la. Nin taamasiɲɛ ninnu juguya bɛ se ka ɲɔgɔn ta. A ka ca a la u bɛ ye u bange waati walima u denmisɛnman. A taamasiɲɛ dɔw bɛ se ka mɔgɔ ka ɲɛnamaya bila farati la.

Taamasiɲɛ minnu bɛ sɔrɔ farikolo la

Walker-Warburg ka bana taamasiɲɛw bɛ nɔ bila farikolo yɔrɔw la minnu bɛ kɛ ka den lamaga.

• Ni den bangera, u bɛ se ka kɛ "floppy" ye i n’a fɔ pupo ɲɛnama tɛ min na ka a sababu kɛ farikolo fanga dɔgɔyali ye (hypotonia) . O b’a to a ka gɛlɛn den ma k’a kunkolo, a bolow, ani a senw kɔrɔta.
• Nin bana in bɛ kɛ sababu ye ka den fasaw fanga dɔgɔya dɔɔni dɔɔni , o kɔrɔ ye ko a taamasiɲɛw bɛ juguya waati tɛmɛnen kɔfɛ.
• Ikomi den fasaw tɛ baara kɛ ka ɲɛ, a bɛ se ka gɛlɛya ka nɔnɔ min denmisɛnni daminɛ na . A bɛ se ka kɛ u tɛ se ka sin min walima ka munumunu ka ɲɛ.

Taamasiɲɛ minnu bɛ sɔrɔ hakili la

Walker-Warburg Syndrome bɛ nɔ bila den kunsɛmɛ yiriwali cogo la. Taamasiɲɛ minnu bɛ sɔrɔ hakili la, olu bɛ se ka kɛ ninnu ye:

• Lissencephaly (sɔgɔsɔgɔninjɛ) ye bana ye min na a bɛ i n’a fɔ kunkolo kurukuruw bɛ a ɲɛda la, ni kuru walima kurukuruw tɛ a la. O kɔrɔ ye ko a bɛ i n’a fɔ kunkolo yɔrɔ bɛ nɔgɔya.
• Ji minnu bɛ ɲɔgɔn sɔrɔ kunsɛmɛ na(Hydrocephalus - ji kun) O bɛ se ka kɛ sababu ye ka kunkolo bonya.
• Kunsɛmɛ ni kunsɛmɛnasumaya yiriwalibaliya walima bana dɔ min bɛ wele ko kunsɛmɛnasumaya (Dandy-Walker malformation) .
• Kɔnɔboli , o kɔrɔ ye ko bana minnu bɛ i n’a fɔ kirinni.

Nin bana ninnu, minnu bɛ nɔ bila i den hakili la, olu bɛ se ka kɛ sababu ye ka den ka yiriwali bila kɔfɛ ani ka gɛlɛyaw lase a ma ni hakili sekow ye .

Ɲɛkisɛ taamasiɲɛw

Walker-Warburg Syndrome bɛ se ka nɔ bila den ɲɛw yiriwali la ani ka taamasiɲɛw lase a ma i n’a fɔ:

• Ɲɛ misɛnniw (Microphthalmia) walima ɲɛ belebelebaw (Buphthalmos) .
• Sankaba bɛ kɛ ɲɛw la, o kɔrɔ ye ko ɲɛkisɛ ɲɛkisɛ kɛra fin ye (Cataracts) .
• Cikanw cili latɛmɛni ɲɛkisɛw fɛ minnu bɛ cikanw ci ka bɔ ɲɛw la ka taa hakili la.
• Gɛlɛya ka yeli kɛ ka jɛya (Yɛlɛmabaliya) .

O kun ye mun ye? Mun na o bɛ ka kɛ?

Walker-Warburg Syndrome bɛ sɔrɔ jamu jiginni fɛ . Jɛnkulu tan ni fila ni kɔ de sɔrɔla minnu bɛ nin bana in bila mɔgɔ la, wa a bɛ se ka kɛ ko caman wɛrɛw bɛ yen minnu ma dɔn. Yɛlɛmaba minnu bɛ kɛ sababu ye ka bana in bila Walker-Warburg Syndrome bɛ mɔgɔ minnu na, olu tilancɛ ni kɔ la, olu dɔw ye:

• `POMT1` ye
• `POMT2` ye
• `CRPPA` (a tun bɛ wele fɔlɔ ko `ISPD`)
• `FKTN` ye
• `FKRP` ye
• `BANBA1`
• `POMGNT1` ye
• `ISPD`
• `GTDC2` ye
• `DAG1` ye

o jamu ninnu bɛ sukaro mɔlikuluw farali kɛcogo bali farikolojɔlifɛn dɔ la min bɛ wele ko alpha-dystroglycan , o ye fɛɛrɛ ye min bɛ wele ko glycosylation . Ni o glycosylation kɛcogo ma kɛ ka ɲɛ, den farikolo yɔrɔw tɛ se k’u jɔcogo mara farikolo la. O farikolojɔlifɛnw fana bɛ nɔ bila hakili la farikolo yɔrɔw lamagacogo la den ka waati la, o de bɛ kɛ sababu ye ka kunsɛmɛ bana min bɛ wele ko lissencephaly (lissencephaly) min kofɔra ka tɛmɛ.

N’an y’a fɔ cogo nɔgɔman na, denmisɛn min bɛ ni Walker-Warburg Syndrome ye, o farikolo bɛ gɛlɛya tuma bɛɛ ani ka lajɔ. Waati tɛmɛnen kɔfɛ, o farikolojidɛsɛw bɛ tiɲɛ ani u bɛ barika dɔgɔya fo u tɛ se ka baara kɛ tuguni.

Ka fara o kan, Walker-Warburg Syndrome bɛ senfagabana taamacogo tiɲɛ den hakili la. A ka ca a la, senfagabana ka kan ka jɔ ni u sera u ka yɔrɔ la. Nka, sɔgɔsɔgɔninjɛ minnu banana, olu fana bɛ taa ji la min bɛ den kunkolo lamini. O bɛ nɔba bila hakili yiriwali la.

Walker-Warburg ka bana bɛ sɔrɔ cogo di?

Aw ka dɔgɔtɔrɔ bɛ se ka Walker-Warburg Syndrome sɛgɛsɛgɛli daminɛ kɔnɔmaya laban na, wa a sɛgɛsɛgɛli bɛ dafa den bangenen kɔfɛ.

• Ni aw bɛ ultrasound scan kɛ kɔnɔmaya waati, o bɛ se ka bana taamasiɲɛw dɔn, kɛrɛnkɛrɛnnenya la minnu bɛ den kunsɛmɛ.
• Den bangenen kɔfɛ, ja sɛgɛsɛgɛliw i n’a fɔ CT scan ani MRI bɛ se ka den kunkolo ja jɛlen di ani ka bana in jateminɛ.

Sɛgɛsɛgɛli caman bɛ kɛ walasa ka Walker-Warburg Syndrome sɛgɛsɛgɛli dafa:

• Farikolola biyopisi ye sɛgɛsɛgɛli ye walasa ka a dɔn ni den farikolo yɔrɔw ka kɛnɛ. O ye ka farikolo yɔrɔ fitinin dɔ ta k’a sɛgɛsɛgɛ.
• Joli sɛgɛsɛgɛli min bɛ kɛ walasa ka Kɛrɛyatini Kinazi (CK) hakɛ lajɛ joli la. CK ye anzimu ye min bɛ bɔ joli la ni farikolo yɔrɔw tiɲɛna. CK hakɛ caman bɛ farikolo tiɲɛni jira.
• Ɲɛ sɛgɛsɛgɛli walasa ka Walker-Warburg Syndrome taamasiɲɛw lajɛ den ɲɛ na.
• Joli sɛgɛsɛgɛli min bɛ kɛ ni jamu ye walasa ka jamu caman sɛgɛsɛgɛ min bɛ bana taamasiɲɛw bila mɔgɔ la.

O furakɛcogo jumɛnw bɛ yen?

A ka c’a la, fura tɛ Walker-Warburg Syndrome la. O la, furakɛli kun fɔlɔ ye ka bana taamasiɲɛw nɔgɔya. Furakɛli suguyaw bɛ se ka ɲɔgɔn ta den kelen-kelen bɛɛ la minnu sɔrɔla ni bana in ye, ka kɛɲɛ ni den ka bana ye. Furakɛli suguyaw bɛ se ka kɛ ninnu ye:

• Opereli ka ji tɛmɛnen bɔ kunsɛmɛ na (hydrocephalus).
• Fura minnu bɛ di walasa ka kirinni bali.
• Farikoloɲɛnajɛ furakɛli walasa ka farikolo fanga bonya.
• Ni dumuni dunni ka gɛlɛn aw ma, balodɛsɛbanakisɛ donli bɛ se ka aw dɛmɛ.

Walker-Warburg Syndrome furakɛli kun ye ka bana taamasiɲɛw bali minnu bɛ se ka a ka ɲɛnamaya bila farati la ani ka dɛmɛ don ka dɔ fara den ka ɲɛnamaya kan.

Yala fɛɛrɛ bɛ yen min bɛ se ka Walker-Warburg ka bana kunbɛn wa?

Walker-Warburg Syndrome ye bana ye min bɛ sɔrɔ jamu fɛ, o la fɛɛrɛ tɛ yen min bɛ se ka a kunbɛn. Ni aw b’a fɛ ka kɔnɔ ta ani ni aw b’a fɛ ka farati dɔn den sɔrɔli la min ka bana dɔ bɛ a la, a ka ɲi aw ka kuma aw ka dɔgɔtɔrɔ fɛ jamu sɛgɛsɛgɛli walima jamu ladilikanw kan .

Ni nin bana in bɛ ne den na, ne ka kan ka mun makɔnɔ?

Walker-Warburg Syndrome ye bana ye min bɛ taa ɲɛ. O kɔrɔ ye ko a taamasiɲɛw bɛ se ka nɔgɔya a daminɛ na, nka u bɛ juguya waati tɛmɛnen kɔfɛ. O bɛ se ka kɛ dusukasikoba ye, nka a ka ca a la nin bana in bɛ den minnu na, olu si bɛ mɛn , tuma caman na fo u denmisɛnman dɔrɔn. Aw den ka dɔgɔtɔrɔ bɛna furakɛli kɛ walasa ka bana taamasiɲɛw bali minnu bɛ se ka a ka ɲɛnamaya bila farati la ani ka den ka ɲɛnamaya janya. Aw ye aw hakili to a la ko fura tɛ nin bana in na.

Ni aw den ka bana sɛgɛsɛgɛra, a nafa ka bon aw ka aw janto aw yɛrɛ la. A bɛ se ka kɛ nafa ye aw ni aw ka denbaya ma ka kuma ni jamu ladilikɛla dɔ ye walasa k’aw dɛmɛ ka aw den ka bana sɛgɛsɛgɛli ni a furakɛcogo sugandilenw faamuya ani k’u kunbɛn. Hakilila kɛnɛya baarakɛla fana bɛ se k’aw dɛmɛ ka aw labɛn ani ka se ka bɔnɛ barikama min sɔrɔ ni aw den ka bana sɛgɛsɛgɛli ye. Dusukasi ni dɛmɛjɛkuluw bɛ se ka kɛ dususalo sababuba ye denbayaw bolo nin waati gɛlɛnw na.

Tuma jumɛn na ne ka kan ka taa ni ne den ye dɔgɔtɔrɔso la?

Ni aw den ye Walker-Warburg Syndrome taamasiɲɛw jira, kɛrɛnkɛrɛnnenya la ni a tɛ se ka dumuni kɛ , aw bɛ aw den ka dɔgɔtɔrɔ wele o yɔrɔnin bɛɛ. Ani fana, aw bɛ dɔgɔtɔrɔ ladɔnniya ni aw den ka bana taamasiɲɛw barila ka segin a kan walima ni u juguyara , hali ni furakɛli kɛra ka ɲɛ ka bana taamasiɲɛw lajɔ.

farati bɛ aw den na ka kirinni sɔrɔ . Ni aw y’a ye ko aw den hakili bɛ bɔ waati dɔɔni kɔnɔ, a bɛ kirin walima a bɛ lamaga a yɛrɛ ma, walima a bɛ i n’a fɔ a hakili ɲagamina, a sirannen don, walima a tɛ lafiya, aw bɛ taa dɔgɔtɔrɔso la joona joona.

Ne ka kan ka ɲininkali jumɛnw kɛ ne den ka dɔgɔtɔrɔ la?

I bɛ se ka ɲininkali caman kɛ nin waati gɛlɛn in na. Aw bɛ a ɲini ka nin ɲininkali ninnu kɛ aw den ka dɔgɔtɔrɔ la:

• Yala ne den mago bɛ opereli la wa?
• Furakɛliw kɔlɔlɔ jumɛnw bɛ yen?
• Ni kirinni bɛ ne den na, ne bɛ mun kɛ?
• Siɲɛ joli ne ka kan ka na ni ne den ye kɛnɛyako sɛgɛsɛgɛli la?

Ni aw y’a dɔn ko bana dɔ bɛ aw den kura la, min bɛna u bali ka ɲɛnamaya dafalen kɛ, o bɛ se ka kɛ ko ye min bɛ mɔgɔ dusu tiɲɛ kosɛbɛ. Ni nin bana sɛgɛsɛgɛli gɛlɛn in kɛra, aw ka dɔgɔtɔrɔ bɛna furakɛli kɛ walasa ka bana taamasiɲɛw bali minnu bɛ se ka a ka ɲɛnamaya bila farati la ani ka den ka ɲɛnamaya janya. Aw den ka bana sɛgɛsɛgɛli bɛ se ka kɛ dusukunnataw ye kosɛbɛ aw ni aw ka denbaya ma, o la aw ye aw jija ka dɛmɛ sɔrɔ aw mago bɛ min na. Mɔgɔ caman b’a ye ko ladilikan minnu bɛ di mɔgɔw ma ni jamu ye, olu bɛ u dɛmɛ walasa ka fɛn caman dɔn u den ladoncogo kan. Hakilila kɛnɛya baarakɛla bɛ se k’aw dɛmɛ ka degunw kunbɛn, ka aw labɛn ani ka se ka bɔnɛ dɔ kunbɛn min tun ma labɛn. Ni aw mago bɛ dɛmɛ na, aw bɛ kuma aw ka dɔgɔtɔrɔ fɛ ani ka aw dɛmɛ.

Kuma surun: Take-Home Message

• Walker-Warburg Syndrome ye bana ye min man teli ka sɔrɔ jamu fɛ, nka a ka jugu kosɛbɛ.
• O bɛ nɔ bila den farikolo, a kunkolo ani a ɲɛw la kosɛbɛ .
• A taamasiɲɛw ye farikolo fanga dɔgɔyali (denmisɛn min bɛ sɔgɔsɔgɔ), kunsɛmɛnasumaya (kunsɛmɛnasumaya, kunsɛmɛnasumaya), kunsɛmɛnasumaya, ani ɲɛ gɛlɛyaw .
• o bɛ sɔrɔ jamu nafama dɔ fɛ min bɛ sɔrɔ bangebaga fila bɛɛ fɛ .
• Hali ni fura tɛ yen, furakɛli dɔw bɛ yen minnu bɛ se ka bana taamasiɲɛw kunbɛn ani ka dɔ fara mɔgɔ si hakɛ kan .
• A nafa ka bon kosɛbɛ bangebagaw ni denbayaw bolo ka to hakili la ani ka dɛmɛ wajibiyalen sɔrɔ o waati gɛlɛn sugu la. Ladilikanw ni hakili kɛnɛya dɛmɛni bɛna dɛmɛ o la.

N jigi b’a kan ko nin kunnafoniw y’aw dɛmɛ ka faamuyali dɔ sɔrɔ nin bana in kan min man ca. I hakili to a la ko i kelen tɛ, wa dɔgɔtɔrɔw ni ladilikɛlaw labɛnnen don k’i dɛmɛ.

` Walker-Warburg ka banaw, jamu banaw, farikolo fanga dɔgɔyali, kunsɛmɛnasumaya, ɲɛbanaw, farikolojidɛsɛ bangenen, denmisɛnw ka kɛnɛya