Yala aw walima aw den farikolo bɛ sɛgɛn wa? Yala a bɛ se ka kɛ Nemaline Myopathie ye wa?

Yala i b’a ye tuma dɔw la ko i farikolo barika ka dɔgɔ kosɛbɛ, walima i denmisɛnnin bɛ fɛnw kɛ kɔfɛ dɔɔni ka tɛmɛ denmisɛn tɔw kan, walima a bɛ i n’a fɔ fanga tɛ a la wa? O kow bɛ se ka kɛ kun suguya caman de kosɔn. Nka, bi an bɛna kuma bana dɔ kan min man ca, nka a nafa ka bon, min nafa ka bon ka an janto a la. o ye bana ye min bɛ wele ko Nemaline Myopathie .

Nemaline Myopathie ye mun ye?

N’an y’a fɔ cogo nɔgɔman na, Nemaline Myopathy ye bana ye min bɛ farikolo yɔrɔw degun minnu bɛ an farikolo dɛmɛ ka lamaga (a bɛ fɔ fana ko kolotugudaw ). O bɛ kɛ sababu ye ka farikolo fanga dɔgɔya (miopathie) farikolo yɔrɔ caman na. Nin taamasiɲɛ ninnu bɛ se ka kɛ tuma dɔw la bange waati, walima denmisɛnya waati, wa a man teli kosɛbɛ balikuya waati. Nin farikolo fanga dɔgɔyali in ka teli ka nɔ bila:

• Ka taa i ɲɛda la
• Ka se kɔ la
• Ka taa kɔkolo yɔrɔ la
• Ka se kamankunw ma
• Ka ɲɛsin bolokɔniw ni senw sanfɛla ma

Fɛn kɛrɛnkɛrɛnnen wɛrɛ bɛ nin nemaline myopathy in na. O kɔrɔ ye ko n’an ye farikolo yɔrɔw sɛgɛsɛgɛ (an bɛ biyɔpisi kɛ ), an bɛ fɛn dɔw ye farikolo kɔnɔ minnu bɛ i n’a fɔ jiri, i n’a fɔ bere misɛnninw (o bɛ wele ko nemaline farikolow) . Gɛrɛkikan daɲɛ "nema" kɔrɔ fana ye "jiri-ɲɔgɔnna". Donc (o la) bana in y'a tɔgɔ Sɔrɔ o cogo de la. A bɛ wele fana tɔgɔ wɛrɛw la, n’a sɔrɔ aw y’a mɛn:

• Bana min bɛ sɔrɔ bangekɔlɔsi fɛ bere la
• Nemaline farikolo bana
• Rod myopathie (miyɔpati ) min bɛ wele ko rod

nemaline myopathy bɛ mɔgɔ minnu na , olu fanba bɛ bange ni fɛn dɔ ye min bɛ sɔrɔ u bangebagaw fɛ . Nka, a man teli kosɛbɛ, bana in bɛ se ka kɛ ni denbaya ka tariku si tɛ a la, wa a bɛ se ka sɔrɔ jamu caman cili fɛ k’a sɔrɔ a ma kɛ cogo si la.

Min nafa ka bon, o ye ko fura tɛ yen min bɛ wele ko nemaline myopathy. Nka, furakɛli suguya caman bɛ yen minnu bɛ se ka dɛmɛ don ka bana taamasiɲɛw kunbɛn ani ka ɲɛnamaya nɔgɔya. Mɔgɔ minnu ka mikoropati suguya ka ca ni tɔw bɛɛ ye, olu bɛ se ka ɲɛnamaya kɛ tuma caman na, ɲɛnamaya kɛcogo ɲuman na.

Yala Nemaline Miyopathie suguya wɛrɛw bɛ yen wa?

Ɔwɔ, nemaline myopathy suguya belebele wɔɔrɔ bɛ yen. A taamasiɲɛw daminɛ waati ni bana juguya bɛ ɲɔgɔn ta ka kɛɲɛ ni a suguya ye. 1. Nemaline myopathy congénitale (nemaline myopathy) min bɛ sɔrɔ bangekɔlɔsi fɛ: Nin ye suguya ye min ka teli ka kɛ . Nemaline myopathy banabagatɔ bɛɛ tilancɛ ɲɔgɔn bɛ nin suguya in na. Nin ye bana ye min bɛ sɔrɔ bange waati. 2. Nemaline miopathie bangenen cɛmancɛ la :Nin suguya in na, a taamasiɲɛw man jugu ka tɛmɛ a juguman suguya kan, nka a ka jugu ka tɛmɛ a suguya kan. Nin suguya in bɛ banabagatɔ 20% ɲɔgɔn na. 3. Nemaline myopathy (denmisɛnninw) jugumanba : Nin ye bana jugumanba ye min bɛ sɔrɔ bange waati . Nin suguya in bɛ banabagatɔ 16% ɲɔgɔn na. 4. Denmisɛnninw ka ɲɛgɛnɛsiralabanaw (nemaline myopathy) : Nin suguya in bɛ sɔrɔ san 10 ni san 20 cɛ . 5. Nemaline myopathy min bɛ daminɛ balikuw fɛ : Nin bana in bɛ sɔrɔ san 20 ni san 50 cɛ.Banabagatɔ 4% ɲɔgɔn bɛ nin suguya in sɔrɔ. 6. Amish nemaline myopathy : Nin ye suguya kɛrɛnkɛrɛnnen ye min bɛ ye Amish sigida la. A man ca kosɛbɛ wa a ka ca a la a bɛ se ka kɛ sababu ye ka mɔgɔ faga denmisɛnya la.

Jɔn bɛ se ka nin bana in sɔrɔ?

Nemaline myopathy bɛ se ka mɔgɔ bɛɛ minɛ, cɛya ni musoya, siya walima diinɛ mana kɛ min o min ye. Nka, ni i bangebaga kelen walima u fila bɛɛ bɛ ni bana in ka jeninida caman cili ye, i bɛ faratiba la . Amish sigida mɔgɔw fana bɛ faratiba la. bana ye min man ca kosɛbɛ . Sɛgɛsɛgɛlikɛlaw y’a fɔ ko bana in bɛ sɔrɔ den ɲɛnama 50 000 o 50 000 ɲɔgɔn na. Nka, Amish sigida la, a fɔra ko mɔgɔ 500 o 500, kelen bɛ se ka tɔɔrɔ nin bana in fɛ.

Nemaline Myopathie sababu ye mun ye?

nemaline myopathy ye an ka kolotugudaw ni farikolo yɔrɔw bana ye . Tuma caman na, a bɛ sɔrɔ fɛn caman Changements de gènes, o bɛ wele ko genes mutations . O jɛnɛya caman sɛgɛsɛgɛli bɛ se ka sɔrɔ bangebaga kelen walima bangebaga fila bɛɛ fɛ.

• Tuma dɔw la, nin bana in bɛ se ka kɛ ni bangebaga fila bɛɛ bɛ ni jamu ye min tɛ a cogo la (i n’a fɔ a bɛ sɔrɔ ciyɛn na i n’a fɔ otosomali recessif trait) .
• A man teli, a bɛ se ka sɔrɔ hali ni bangebaga kelen dɔrɔn de ye jamu sɔrɔcogo jugu ciyɛn ta (o kɔrɔ ye ko a bɛ kɛ otosomali dominant trait ).
• Tuma dɔw la, o bana in bɛ se ka sɔrɔ fana ka bɔ fɛn kura dɔ la min kɛra cɛya walima kɔnɔbara la, min kɛra k’a sɔrɔ a ma kɛ cogo si la.

Tuma caman na, o bɛ sɔrɔ fɛn caman cili fɛ Nebulin (NEB) jamu walima Actin alpha-1 (ACTA1) jamu la . Nebuline ni actin ye farikolojɔlan suguya fila ye minnu bɛ an farikolo yɔrɔw dɛmɛ ka u sɔgɔsɔgɔ. Miiri u la i n’a fɔ masin yɔrɔ dɔw. Ni gɛlɛya bɛ o yɔrɔ ninnu na, fasaw bɛ baara dabila ka ɲɛ.

Nin bana in taamasiɲɛw ye jumɛnw ye?

Nemaline myopathie taamasiɲɛ kunbabaw ye:

• Farikolo fanga dɔgɔyali (Hypotonia) : Farikantan ye farikolo la, i n’a fɔ lastikuw.
• Senfagabana dɔgɔyali walima a bɔnɛnen : Sen lamagacogo dɔgɔyali ni dɔgɔtɔrɔ ye gɛnɛgɛnɛ gosi ni marifa fitini ye.
• Farikolo fanga dɔgɔyali: Farikolo fanga dɔgɔyali dusukunnata .

Ni aw den bangenen kura ye nin taamasiɲɛ ninnu jira, aw bɛ se ka fɛn wɛrɛw fana ye i n’a fɔ:

• Taamacogo jiginni min tɛ cogo la (taamabaliya) .
• Farikoloɲɛnajɛ kɛcogo minnu bɛ mɛn sen na: Fɛn minnu bɛ mɛn i n’a fɔ sigili, jɔli ani kunkolodimi.
• Kuma ni dumuni munumunu gɛlɛya (disartiri ni dumunikɛbaliya) .
• Dawolo yɔrɔ bɛ bila kɔfɛ ka tɛmɛ a cogo kɔrɔ kan (retrognathia) .
• Ka ɲɛda cogoya janyalen ta .
• da sanfɛla kurulen don cogo la min tɛ bɛn .
• Kumacogo jugumanba (velopharyngeal dysfunction) .
• Ninakili fanga dɔgɔyali sunɔgɔ waati (fiɲɛ bɔli su fɛ) , o bɛ se ka kɛ sababu ye ka gazi ɲuman hakɛ caya joli la (hypercarbie) .
• Ninakilidegun (ninakilidegun) .

Nin bana in bɛ mɔgɔ minnu na, olu bɛ se ka taamasiɲɛ wɛrɛw sɔrɔ ni u kɔrɔla :

• kɔkolo gɛlɛyali cogo la min tɛ bɛn .
• sɔgɔsɔgɔninjɛ .
• Joli-yɔrɔ -ko-kontraw .
• Disi min jiginna (pectus excavatum) .

Nin bana in bɛ dɔn cogo di?

Fɔlɔ, dɔgɔtɔrɔ bɛna aw walima aw den ɲininka aw ka bana taamasiɲɛw la ani ni o bana suguw kɛra aw ka denbaya kɔnɔ mɔgɔ dɔ la. O kɔ, u bɛna farikolo sɛgɛsɛgɛli kɛ. Ni dɔgɔtɔrɔ bɛ sigasiga ko nemaline myopathy, a bɛna yamaruya di ka farikolo yɔrɔ dɔw lajɛ . O ye ka farikolo yɔrɔ fitinin dɔ bɔ opereli senfɛ ka a sɛgɛsɛgɛ. Ni nin bana in bɛ aw walima aw den na, aw bɛna fɛnw ye minnu bɛ i n’a fɔ jiri (nemaline farikolow) o farikolo yɔrɔ la. dɔgɔtɔrɔ bɛna jamu sɛgɛsɛgɛli fana kɛ .A bɛ se ka ladili fana. O bɛ se ka nemaline miopathie cogoya sɛmɛntiya.

A bɛ furakɛ cogo di?

I n’a fɔ a fɔra cogo min na ka tɛmɛ, fura kɛrɛnkɛrɛnnen tɛ o la. O la, furakɛli kun ye ka dɔ bɔ bana taamasiɲɛw la ani ka dɛmɛ don ka ɲɛnamaya nɔgɔya . Furakɛli bɛ se ka kɛ ninnu ye:

• Dɛmɛ don ninakili gɛlɛyaw la: O bɛ se ka kɛ fiɲɛbɔlan bilali ye , ka a siri fiɲɛbɔlan masin na, walima ka baara kɛ ni BiPAP masin ye.
• Farikoloɲɛnajɛ min tɛ nɔba bila mɔgɔ la: Aw bɛ farikolo fanga mara.
• Masaya furakɛli ni farikoloɲɛnajɛ : Aw bɛ farikolo baara sabati.
• Kuma furakɛli : Aw bɛ dɔ bɔ kuma gɛlɛyaw ni sɔgɔsɔgɔninjɛ la.
• Fɛnɲɛnɛmafagalanw : Aw bɛ dɔ fara farikolo lamagacogo kan.
• Taama dɛmɛnanw: Fɛn minnu bɛ i n’a fɔ bere, berew, gɛnɛgɛnɛw, ani wotoronin.

Ni bana taamasiɲɛw ka jugu, walima ni kɛnɛya gɛlɛya wɛrɛw bɛ yen, a bɛ se ka kɛ aw ka kan ka taa dɔgɔtɔrɔso la . Dɔgɔtɔrɔso ladonni bɛ se ka nin furakɛli ninnu kɛ:

• Ninakili dɛmɛnan : I n’a fɔ fiɲɛ bilali masin fɛ walasa ka aw dɛmɛ ka ninakili sunɔgɔ waati.
• opereli : Aw bɛ kolotugudaw walima sɔgɔsɔgɔninjɛ furakɛ .
• Kɔnɔnatumuw balocogo : Ni dumuni munumuni ka gɛlɛn aw ma.

Yala o farati bɛ se ka dɔgɔya wa?

Tiɲɛ na, fɛɛrɛ si tɛ yen min bɛ se ka aw yɛrɛ walima aw den bali ka nemaline myopathy sɔrɔ. Nka, a nafa ka bon kosɛbɛ ka a taamasiɲɛw dɔn, ka dɔgɔtɔrɔso laadilikan ɲini joona, ani ka furakɛli daminɛ ni a mago bɛ a la .

Nin bana in bɛ mɔgɔ min na, o bɛ se ka siniɲɛsigi sugu jumɛn makɔnɔ?

tiɲɛ na , o bɛ danfaraba don ka kɛɲɛ ni bana suguya ye .

• Nemaline myopathy congénitale (nemaline myopathy) min bɛ sɔrɔ bangekɔlɔsi fɛ: A ka ca a la, farikolo fanga dɔgɔyali bɛ to a cogo kelen na waati tɛmɛnen kɔfɛ. Nka, ni aw bɛ kɔrɔbaya, o barikantanya bɛ se ka bonya dɔɔni ni aw bɛ bonya.
• Nemaline myopathy jugumanba min bɛ sɔrɔ bangekɔlɔsi fɛ (den bangenen kɔfɛ): O bɛ se ka gɛlɛyaw lase mɔgɔ ma . I n'a fo:
• Joli caman bɛ siri u kɔrɔtalen na walima u janyalen na (Arthrogryposis multiplex congenita) .
• Dumuni walima jimafɛnw fiyɛliSɔgɔsɔgɔninjɛ min bɛ wele ko aspiration pneumonie .
• Karilenw.
• Dusukunnabana (Cardiomyopathie) .
• Ninakilidegun .
• Nemaline myopathy congénitale intermédiaire : Mɔgɔ caman bɛ se ka mago don ninakili dɛmɛ na ani wotoronin na.
• Denmisɛnninw ka nemaline myopathy (nemaline myopathy) : O bɛ se ka kɛ sababu ye ka senw jigin, o ye sebaliya ye ka sen kɔrɔta senkɔni sanfɛ. A bɛ se ka kɛ sababu ye fana ka senkɔni ni senkɔni duguma fasaw lamaga.
• Nemaline myopathy min bɛ daminɛ balikuw fɛ : O fana bɛ se ka gɛlɛyaw lase mɔgɔ ma :
• Ninakili gɛlɛya.
• Gɛlɛya bɛ kunkolo minɛ ka jɔ ka a sababu kɛ kɔkolo fanga dɔgɔyali ye.
• Dusukunnabana gɛlɛyaw.
• Farikolo fanga dɔgɔyali bɛ bonya dɔɔni dɔɔni.
• Amish nemaline myopathy : Gɛlɛya minnu bɛ nin bana in na, olu dɔw ye farikolo fanga dɔgɔyali ye ka taa a fɛ, ninakilidegun, ani farikolojidɛsɛ .

O la, siniko ta fan fɛ, a bɛ bɔ bana suguya ni a taamasiɲɛw juguya la . Mɔgɔ min ka bana ka nɔgɔn (typique congénitale nemaline myopathie) bɛ se ka taama ka sɔrɔ a ma dɛmɛ foyi sɔrɔ. Nka, bana jugumanba bɛ mɔgɔ minnu na (Amish nemaline myopathy) olu ka teli ka balo san fila ɲɔgɔn kɔnɔ.

Nka, i kana i hakili ɲagami. Hali ni fura tɛ yen, ni furakɛli kɛra ka ɲɛ, nemaline myopathy bɛ mɔgɔ caman minnu na, olu bɛ se ka ɲɛnamaya jan kɛ . Ka kɛɲɛ ni bana suguya ye, mɔgɔ si hakɛ bɛ se ka kɛ kalo damadɔw la ka taa a bila a si bɛɛ la.

Aw bɛ aw janto aw yɛrɛ la walima aw den na cogo di ni nin bana in bɛ u la?

Aw bɛ se ka dɛmɛ don ka nin bana in gɛlɛyaw dɔgɔya ni aw ye nin wale ninnu kɛ:

• Aw bɛ to ka aw dusukun baarakɛcogo lajɛ.
• Aw bɛ dɔgɔtɔrɔ ka laadilikan ni furakɛli ɲini joona ni ninakilidegun dɔ bɛ aw la (misali la, sɔgɔsɔgɔninjɛ , disidimi, sɔgɔsɔgɔninjɛ ).

Ni aw ye nin bana in jamu tabaga ye ani ni aw jigi b’a la fana ka den sɔrɔ, a ka ɲi aw ka ɲɔgɔn sɔrɔ ni jamu ladilikɛla dɔ ye walasa ka laadilikan sɔrɔ .

Aw ye aw hakili to a la i n’a fɔ kumasen kuncɛlen

Nemaline Myopathy (NM) ye bana ye min man teli ka sɔrɔ, a bɛ kolotugudaw de minɛ. A taamasiɲɛ kunbabaw ye farikolo fanga dɔgɔyali ye ani farikolo fanga dɔgɔyali. Nin bana in suguya caman bɛ yen, u kelen-kelen bɛɛ daminɛ ni a juguya tɛ kelen ye. Hali ni fura kɛrɛnkɛrɛnnen tɛ yen, furakɛli dɔw bɛ yen minnu bɛ dɔ bɔ bana taamasiɲɛw la.. Mɔgɔ fanba minnu ka suguya ka ca (nemaline myopathie congénitale typique) olu bɛ se ka u yɛrɛ ka ɲɛnamaya kɛ ni furakɛli bɛnnen ye. A suguya wɛrɛw ɲɛfɔli bɛ danfara ka kɛɲɛ ni a taamasiɲɛw juguya ye. O la, a nafa ka bon kosɛbɛ ka tugu dɔgɔtɔrɔw ka laadilikanw kɔ ani ka ladonni ɲuman sɔrɔ . Nemaline Miyopathie, Farikolo fanga dɔgɔyali, Jamu banaw, Denmisɛnw ka banaw, Farikoloɲɛnajɛw, Ninakili gɛlɛyaw, Muscle Biopsy