So wo nipadua te nka sɛ ɛreyɛ nea wontumi nni so? So ebetumi aba sɛ ɛyɛ Machado-Joseph Yare?

So woate nka pɛn sɛ wo nantew a wuntumi nyɛ wo ho hwee, wo nsa ne wo nan ho ayɛ wo yaw, anaasɛ wo kasa ayɛ mmerɛw bere a worekasa no? Bere a ebia saa nneɛma yi bɛyɛ te sɛ nneɛma a ɛfata no, ɛtɔ mmere bi a ebetumi ayɛ ayaresa tebea bi ho sɛnkyerɛnne. Ɛnnɛ yɛrebɛka tebea bi a ɛyɛ den kakra, nanso ɛho hia paa sɛ yehu ho asɛm. Ɛno ne Machado-Joseph Yare (MJD) .

Dɛn ne Machado-Joseph yare (MJD)?

Sɛ yɛbɛka no tiawa a, Machado-Joseph yare (MJD) yɛ tebea a wonya fi awo mu a ɛka yɛn ntini ahorow . Ɛhyɛ kuw bi a wɔfrɛ no ataxia mu . "Ataxia" betumi ayɛ asɛmfua foforo ama wo. Ɛkyerɛ sɛ tumi a yɛn nipadua no tumi di ntini ahorow so no so tew nkakrankakra. Fa no sɛ ɛte sɛ nea woahwere nneɛma a ɛne ne ho di nsɛ. Eyi betumi ama yɛakari pɛ na yɛahwere yɛn akwaa so tumi.

Wɔ MJD mu titiriw no, yɛn nsa ne yɛn nan a yɛde yɛ adwuma no hwere nkakrankakra. Eyi ma ayarefo nantew wɔ ɔkwan a ɛda nsow so, na ɛhinhim . Ebia ɛbɛyɛ den ama nnipa binom nso sɛ wɔbɛmene na wɔakasa.

Saa MJD yare yi wɔ din foforo, a ɛne Spinocerebellar Ataxia type 3. Nokwarem no, saa MJD yi ne nyarewa kuw yi a abu so sen biara a wɔfrɛ no spinocerebellar ataxia.

So Machado-Joseph yare (MJD) ahorow ahorow wɔ hɔ?

Yiw, wobetumi akyekyɛ Machado-Joseph yare no mu akuwakuw atitiriw abiɛsa. Saa nkyekyɛmu ahorow yi gyina mfe a obi adi ne sɛnea sɛnkyerɛnne ahorow no mu yɛ den so.

• Ɔkwan I (MJD-I): Saa ɔkwan yi taa fi ase wɔ mfe 10 kosi 30. Nsɛnkyerɛnne no betumi ayɛ kɛse na akɔ so ntɛmntɛm .
• Type II (MJD-II): Eyi taa fi ase wɔ mfe 20 kosi 50. Bere kɔ so no, sɛnkyerɛnne ahorow no mu yɛ den nkakrankakra .
• Ɔkwan III (MJD-III): Saa ɔkwan yi fi ase wɔ mfe 40 kosi 70. Bere kɔ so no, sɛnkyerɛnne ahorow no mu yɛ den nkakrankakra .

Afei ebia woate ase sɛ ɛsono sɛnea sɛnkyerɛnne ahorow no fi ase ne sɛnea ɛte wɔ saa ahorow abiɛsa yi mu biara ho.

Dɛn ne Machado-Joseph yare (MJD) ho sɛnkyerɛnne?

Nsɛnkyerɛnne a wunya no gyina MJD ko a wowɔ so.

Type I (MJD-I) ho sɛnkyerɛnne ahorow

Nsɛnkyerɛnne a ɛte sɛɛ no ​​mu yɛ den na ɛkɔ so ntɛmntɛm. Ebia nea ɛka ho ne:

• Ntini a ɛtwetwe a wontumi nni so wɔ nsa ne anan mu (dystonia) .
• Ntini a ɛyɛ den (a ɛyɛ den) .
• Ntini a ɛyɛ den dodo (hypertonia) .
• Nipadua a ɛkeka ne ho a ɛnyɛ ne kwan so a wontumi nni so (ataxia) .
• Nantew a ɛyɛ nwonwa, a ɛyɛ hu.
• Ɔkasa a ɛyɛ mmerɛw, kasa a ɛyɛ mmerɛw.
• Aduan a ɛyɛ den sɛ wobɛmene (dysphagia) .
• Aniwa a ɛpuepue (proptosis) .

Type II (MJD-II) ho sɛnkyerɛnne ahorow

Nsɛnkyerɛnne a ɛte sɛɛ no ​​mu yɛ den nkakrankakra bere kɔ so no. Ebia nea ɛka ho ne:

• Ntini a ɛtwetwe a wontumi nni so a ɛkɔ so (spasticity) .
• Ɛyɛ den sɛ wobɛnantew esiane ntini a ɛtwetwe (spastic gait) nti.
• Reflexes a ɛyɛ mmerɛw.
• Ɛyɛ den sɛ wobɛhyehyɛ nsa ne nan a wɔde keka wɔn ho (ataxia) .

Type III (MJD-III) ho sɛnkyerɛnne ahorow

Nsɛnkyerɛnne a ɛte sɛɛ nso taa yɛ kɛse bere a bere kɔ so no. Ebia nea ɛka ho ne:

• Ntini a ɛtwetwe.
• Nsa, anan, anan, ne anan a ɛyɛ mmerɛw, ɛyɛ mmerɛw, ɛyaw, ne nea ɛyɛ mmerɛw (neuropathy) .
• Ntini a wɔsɛe no (ntini mu ntini a ɛyera - atrophy ).
• Nantew a entumi nnyina pintinn.

Nsɛnkyerɛnne afoforo a ɛtaa ba

Wɔ saa ahorow yi akyi no, MJD ayarefo betumi anya sɛnkyerɛnne afoforo pii:

• Anisoadehu abien (diplopia) .
• Aniwa a wontumi nni so (nystagmus) .
• Nsa a ɛrepopo.
• Ɔhaw ahorow a ɛfa kari pɛ ne nhyehyɛe a wɔyɛ no pɛpɛɛpɛ ho.
• Tɛkrɛma anaa anim a ɛyɛ mmerɛw.
• Dae mu haw ahorow.
• Akyi akyi yaw a enni sabea.

Nea ɛho hia: Sɛ saa sɛnkyerɛnne ahorow yi pii bom ba a, ebia wubesusuw sɛ ebia ɛyɛ ntini mu yare foforo te sɛ ntini mu yare anaa Parkinson yare ho sɛnkyerɛnne anaa . Enti, sɛ wunya sɛnkyerɛnne foforo anaasɛ sɛnkyerɛnne bi a ɛwɔ hɔ dedaw no mu yɛ den, titiriw sɛ ɛka wo kankyee ne sɛnea wode wo nipadua di dwuma a, kɔ oduruyɛfo nkyɛn ntɛm ara.

Dɛn na ɛde Machado-Joseph yare (MJD) ba?

Nea ɛde yare yi ba titiriw ne nkwaadɔm mu nsakrae a ɛba yɛn awosu mu nkwaadɔm mu . Ɛte sɛ mfomso ketewaa bi a ɛwɔ kɔmputa so mmara mu a ebetumi asɛe dwumadi no nyinaa.

Titiriw no, saa mutation yi ba wɔ gene bi a wɔfrɛ no ATXN3 a ɛwɔ yɛn chromosome 14. Wɔ DNA fã bi a ɛwɔ saa gene yi mu no, trinucleotide repeats a wɔfrɛ no "CAG" wɔ hɔ.Biribi a wɔka sɛ wɔsan yɛ no mpɛn pii wɔ ɔkwan a ɛyɛ soronko so. CAG gyina hɔ ma nnuru abiɛsa a wɔfrɛ no Cytosine-Adenine-Guanine.

Wɔ obi a onni MJD DNA mu no, wɔsan yɛ saa CAG a wɔsan yɛ yi mpɛn 12 kosi 43. Nanso, wɔ obi a ɔwɔ MJD DNA mu no, wɔsan yɛ saa CAG a wɔsan yɛ yi mpɛn 56 kosi 86. Mfe a wufi ase nya sɛnkyerɛnne ahorow ne sɛnea yare no mu yɛ den no ne dodow a CAG san ba no wɔ abusuabɔ tẽẽ.

Tebea no fi awo mu wɔ ɔkwan a ɛyɛ autosomal dominant so . Eyi kyerɛ sɛ abofra hia ɔwofo biako pɛ na ama wanya awosu mu nkwaadɔm a ɛbɛma yare no anyin. Sɛ wowɔ MJD a, wo ba no wɔ hokwan 50% sɛ obenya yare no fi awo mu.

Hena na ɔwɔ asiane kɛse sɛ obenya Machado-Joseph yare (MJD)?

MJD abu so kɛse wɔ nnipa a wofi Azorean anaa Portugalfo mu . Wɔ Flores supɔw a ɛwɔ Azores so no, wɔbɔ amanneɛ sɛ nnipa 140 biara mu biako na ɔwɔ yare no. Nanso, eyi nkyerɛ sɛ ɛnka mmusuakuw afoforo. Ebetumi aka nnipa a wofi mmusuakuw biara mu.

Ɔkwan bɛn so na wohu Machado-Joseph yare (MJD)?

Sɛ wokɔ oduruyɛfo nkyɛn a, obebisa wo yare no ho sɛnkyerɛnne na wayɛ wo nipadua mu nhwehwɛmu. Esiane sɛ tebea yi kɔ so wɔ mmusua mu nti, ɛho hia sɛ woka w’abusua abakɔsɛm a wowoo wo ho asɛm. Sɛ obi foforo biara wɔ w’abusua mu a ɔwɔ saa sɛnkyerɛnne ahorow yi a, ɛho hia nso sɛ wubisa bere a wɔn yare no fii ase ne sɛnea ɛkɔɔ so ntɛmntɛm no ho asɛm.

Nea ɛbɛyɛ na wo duruyɛfo no akyerɛ sɛ woahu sɛ ɔwɔ yare no, ebia wobɛkamfo akyerɛ sɛ wɔnyɛ awosu mu nhwehwɛmu wɔ Machado-Joseph yare no ho . Saa awosu mu nhwehwɛmu yi betumi ahwehwɛ dodow a CAG abiɛsa a ɛyɛ adwenem naayɛ a wɔsan yɛ wɔ wo chromosome 14 no so.

Ɔkwan bɛn so na wɔsa Machado-Joseph yare (MJD)?

Nea ɛyɛ awerɛhow no, wonni aduru biara a wɔde sa Machado-Joseph yare no. MJD ayaresa atirimpɔw ne sɛ wobedi sɛnkyerɛnne ahorow a wowɔ no ho dwuma. Ebia nnuru a wɔde di dwuma no bi ne:

• Nnuru te sɛ Baclofen (Lioresal®) anaa Botulinum awuduru (Botox®) boa ma dystonia ne ntini a ɛyɛ mmerɛw a yɛadi kan aka ho asɛm no so tew.
• Levodopa ayaresa boa ma nipadua no kankan a ɛyɛ brɛoo na ɛyɛ den no so tew.

Nea ɛka ho no, apɔw-mu-teɛteɛ ne nnwinnade a wɔde boa ayarefo betumi aboa ayarefo ma wɔayɛ da biara da dwumadi ahorow na wɔatu akɔ baabiara. Wɔ aniwa mu haw ahorow ho no, prism ahwehwɛ betumi aboa ma aniwa mmɔho abien anaasɛ aniwa a ɛyɛ kusuu so atew.

Bisa wo duruyɛfo no ayaresa mu sɔhwɛ ahorow a wɔde yɛ yare yi ho asɛm.

Obi a ɔwɔ Machado-Joseph yare (MJD) nkwa nna yɛ dɛn?

Obi a ɔwɔ MJD nkwa nna gyina yare ko a ɔwɔ so. Ebia nnipa a wɔwɔ type I no nkwa nna yɛ tiaa, ebia na wɔadi mfe 30 mfinimfini. Nanso, nnipa a wɔwɔ type II anaa type III no taa tra ase sɛnea ɛsɛ.

So wobetumi asiw Machado-Joseph yare (MJD) ano?

Esiane sɛ MJD yɛ awosu mu yare nti, wontumi nsiw ano. Sɛ ɛhaw wo sɛ ebia wo mma benya yare no fi awo mu a, ɛho hia sɛ wo ne awosu ho ɔfotufo bi kasa ansa na woayɛ nyinsɛn ho nhyehyɛe. Ebia akwan bi wɔ hɔ a wobɛfa so asiw MJD ano sɛ wɔremfa awosu mu nhwehwɛmu a wɔde In Vitro Fertilization (IVF) bɛyɛ so .

Bere bɛn na ɛsɛ sɛ mekɔ oduruyɛfo nkyɛn?

Sɛ wowɔ Machado-Joseph yare no ho sɛnkyerɛnne bi a, kɔ oduruyɛfo nkyɛn. Sɛ obi wɔ w’abusua mu wɔ yare no a, ɛbɛyɛ papa sɛ wo ne wo duruyɛfo bɛkasa afa asiane a ɛwɔ hɔ sɛ wubenya yare no ho.

Nsɛm bɛn na ɛsɛ sɛ mibisa me duruyɛfo?

Sɛ wohu sɛ wowɔ MJD a, ebia wobɛpɛ sɛ wubisa wo duruyɛfo nsɛm te sɛ:

• Yare bɛn na mewɔ?
• So bere kɔ so no, me yare no ho sɛnkyerɛnne no bɛkɔ so asɛe?
• Ayaresa bɛn na wokamfo kyerɛ?
• So me mma benya MJD afi me hɔ?

Ɛyɛ ade a ɛfata sɛ wubenya nsɛmmisa ne nkate pii bere a wɔahu sɛ wowɔ yare te sɛ Machado-Joseph yare (MJD) no. Bisa mmoa fi wɔn a wɔbɛn wo paa no hɔ. Afei nso, yɛ obi a ɔde ne ho hyɛ w’ayaresa mu denneennen - di wo nhyehyɛe so, di wo duruyɛfo akwankyerɛ akyi, na bisa nsɛm. Wubetumi nso ne adwenemyare ho ɔfotufo bi akasa asua sɛnea wubegyina tebea yi ano. Nsiw wo nkate ano. Wo ne wo nnamfo, ɔfotufo, anaa kuw bi a wɔboa nkurɔfo nkasa. Kae sɛ ɛnyɛ wo nko ara.

Nkrasɛm a Wɔde Kɔ Fie

Machado-Joseph yare (MJD) yɛ yare a wonya fi awo mu a ɛka yɛn ntini ahorow. Ebetumi aka nneɛma te sɛ kari pɛ ne ntini a ɛhwɛ so. Ɛsono sɛnkyerɛnne ahorow a egyina yare ko a obi wɔ so.

Ɛwom sɛ wonnyaa eyi ano aduru biara de, nanso ayaresa ahorow bi wɔ hɔ a ebetumi aboa ma wɔadi yare no ho sɛnkyerɛnne ahorow no ho dwuma. Nneɛma te sɛ nipadua mu ayaresa ne mfiri a ɛboa betumi ama asetra ayɛ mmerɛw. Sɛ wowɔ saa sɛnkyerɛnne yi, anaa sɛ obi a ɔwɔ w’abusua mu wɔ saa tebea yi a, ɛbɛyɛ papa sɛ wobɛhwehwɛ aduruyɛfo afotu ntɛm ara sɛnea wubetumi. Kae sɛ, sɛ wunya nsɛm ne mmoa a ɛfata a, wubetumi agyina tebea yi ano.

` Machado-Joseph yareɛ, MJD, Spinocerebellar ataxia, ataxia, ntini mu nyarewa, awosu mu nyarewa, awosu mu nyarewa