Yu bɔdi kin fil lɛk se i nɔ go ebul fɔ kɔntrol am? Yu tink se na Machado-Joseph Disease?

Yu dɔn ɛva fil lɛk se yu nɔ ebul fɔ kɔntrol yusɛf, yu an ɛn fut dɛn de swɛ, ɔ yu wɔd dɛn nɔ de tɔk we yu de tɔk? Pan ɔl we dɛn tin ya kin tan lɛk nɔmal tin, sɔntɛnde dɛn kin bi sayn fɔ se pɔsin gɛt sik. Tide wi go tɔk bɔt wan kɔndishɔn we kɔmplikt smɔl, bɔt we rili impɔtant fɔ no bɔt. Dat na Machado-Joseph Disease (MJD) .

Wetin na di sik we dɛn kɔl Machado-Joseph (MJD)?

Fɔ tɔk am simpul wan, Machado-Joseph disease (MJD) na wan sik we wi kin gɛt frɔm wi mama ɛn papa we kin afɛkt wi nervɔs sistɛm . I de insay wan kategori we dɛn kɔl ataxia . "Ataxia" kin bi nyu wɔd to yu. I min se di we aw wi bɔdi kin ebul fɔ kɔntrol di mɔsul dɛn kin stɔp smɔl smɔl. Tink bɔt am lɛk we yu nɔ de wok togɛda igen. Dis kin mek wi nɔ balans ɛn nɔ ebul fɔ kɔntrol wi an ɛn fut dɛn.

insay MJD, spεshal wan, sכmtεm de lכs fכ kכdכnayshכn na wi an εn leg dεm. Dis kin mek di sik pipul dɛn waka difrɛn we, ɛn dɛn kin waka stɛdi . Sɔm pipul dɛn kin gɛt prɔblɛm bak fɔ swɛla ɛn tɔk.

Dis MJD sik gɛt ɔda nem, we na Spinocerebellar Ataxia type 3. Infakt, dis MJD na di kayn we we dɛn kin kɔl dis grup pan sik dɛn we dɛn kɔl spinocerebellar ataxia.

Difrɛn kayn Machado-Joseph disease (MJD) de?

Yɛs, dɛn kin sheb di sik we dɛn kɔl Machado-Joseph to tri men kayn. Dɛn klasification ya de bay di ej wae di sik bigin ɛn aw di sik kin tranga.

• Tayp I (MJD-I): Dis kayn kin bigin bitwin di ej dɛm fɔ 10 ɛn 30. Di sayn dɛm kin rili bad ɛn kin go bifo kwik kwik wan .
• Tayp II (MJD-II): Dis kin bigin bitwin di ej dɛm fɔ 20 ɛn 50. Di sayn dɛm kin wɔs smɔl smɔl as tɛm de go.
• Tayp III (MJD-III): Dis kayn kin bigin bitwin di ej dɛm fɔ 40 ɛn 70. Di sayn dɛm kin wɔs smɔl smɔl as tɛm de go .

Naw yu go dɔn ɔndastand se aw di sik kin bigin ɛn aw dɛn kin bi difrɛn fɔ ɛni wan pan dɛn tri kayn ya.

Wetin na di sayn dɛm fɔ Machado-Joseph disease (MJD)?

De sayn dɛm wae yu kin gɛt kin dipen pan us kayn MJD yu gɛt.

Tayp I (MJD-I) simptom dɛm

Dis kayn sik kin tranga ɛn kin kam kwik kwik wan. Dɛn tin ya kin bi:

• di mכsul dεm we dεn nכ de kכntrol na di an εn di leg dεm (dystonia) .
• Di mɔsul dɛn we stif (rigidity) .
• Fɔ gɛt tumɔs mɔsul dɛn (hypertonia) .
• Di bɔdi we nɔmal, we dɛn nɔ kin kɔntrol (ataxia) .
• Staggering, lurching gait we yu de waka.
• Slurred speech, slɔr tɔk.
• I nɔ izi fɔ swɛla it (dysphagia) .
• Ay dɛn we de kɔmɔt na do (proptosis) .

Tayp II (MJD-II) simptom dɛm

Dis kayn sik kin wɔs smɔl smɔl as tɛm de go. Dɛn tin ya kin bi:

• di mכsul dεm we nכ de kכntro, we de kכntinyu fכ kכntrikshכn (spasticity) .
• difεlεns fכ waka biכs fכ di mכsul dεm we de kכntrikshכn (spastik gait).
• We di riflɛs dɛn wik.
• i at fכ kכdכna di muvmεnt dεm na di an εn lεg dεm (ataxia) .

Tayp III (MJD-III) simptom dɛm

Dis kayn sik kin wɔs bak as tɛm de go. Dɛn tin ya kin bi:

• Di mɔsul dɛn we de shek shek.
• Di an, fut, leg, ɛn fut kin swɛla, swɛt, pen, ɛn swɛt (nyuropathy) .
• di mכsul dεm we de west (dεn de lכs di mכsul tisu - atrofi ).
• We yu nɔ de waka fayn.

Ɔda sayn dɛn we kin apin

Apat frɔm dɛn kayn tin ya, di wan dɛn we gɛt MJD kin gɛt sɔm ɔda sayn dɛn:

• Dabl vishɔn (diplopia) .
• I nɔ ebul fɔ kɔntrol di we aw di yay de muv (nystagmus) .
• An we de shek shek.
• Prɔblɛm dɛn wit balans ɛn kɔdineshɔn.
• Tɔng ɔ fes we de twit.
• Di prɔblɛm dɛn we pɔsin kin gɛt we i de slip.
• Plɛnti pen na di lɔw bak we nɔ de dɔn.

Impɔtant: We dɛn sayn ya kin apin togɛda, yu kin wɔnda if na sayn fɔ ɔda nyurolɔjik sik, lɛk multiple sclerosis ɔ Parkinson’s disease . So, if yu gɛt nyu sik ɔ if wan sik we yu dɔn gɛt dɔn wɔs, mɔ if i afɛkt yu muvmɛnt ɛn aw yu de yuz yu bɔdi, go to dɔktɔ wantɛm wantɛm.

Wetin kin mek pɔsin gɛt di sik we dɛn kɔl Machado-Joseph (MJD)?

Di men tin we kin mek wi gɛt dis sik na we wi jin dɛn chenj . I tan lɛk smɔl mistek we pɔsin mek na kɔmpyuta kɔd we kin mek di wan ol program mɛs.

spεshal wan, dis mכtayshכn de apin insay wan jin we dεn kכl ATXN3 na wi kromozom 14. insay wan sεkshכn fכ DNA insay dis jin, trinyukliכtayd rεpεt dεm de we dεn kכl "CAG".Sɔntin we dɛn se dɛn kin ripit bɔku tɛm di we we nɔ kɔmɔn. CAG tinap fɔ di tri kεmikכl kכmpawnd dεm Cytosine-Adenine-Guanine.

insay di DNA fכ pכsin we nכ gεt MJD, dis CAG rεpεt de ripit bitwin 12 εn 43 tεm. כltu, insay di DNA fכ pכsin we gεt MJD, dis CAG ripit de ripit bitwin 56 εn 86 tεm. Di ej wae yu bigin fɔ gɛt di sik ɛn aw di sik siriɔs, gɛt fɔ du wit di nɔmba fɔ di CAG we de ripit.

di kכndishכn de inhεrit insay wan כtosom dכminant we . Dis min se na wan mama ɔ papa nɔmɔ pikin nid fɔ gɛt di jin fɔ mek di sik bigin. If yu gɛt MJD, yu pikin gɛt 50% chans fɔ gɛt di sik.

Udat de pan big risk fɔ gɛt Machado-Joseph disease (MJD)?

MJD kin bɔku pan pipul dɛn we kɔmɔt na Azorean ɔ Pɔtyugis . Na di ayland we dɛn kɔl Flores na di Azores, dɛn ripɔt se pan ɛvri 140 pipul dɛn, wan gɛt dis sik. Bɔt dis nɔ min se ɔda etnik grup dɛn nɔ de afɛkt am. I kin afɛkt pipul dɛn we kɔmɔt na ɛni trayb.

Aw dɛn kin no bɔt di sik we dɛn kɔl Machado-Joseph disease (MJD)?

We yu go to dɔktɔ, i go aks yu bɔt di sik dɛn we yu gɛt ɛn du yu bɔdi ɛgzam. Bikɔs dis sik kin rɔn na famili, i impɔtant fɔ tɔk bɔt yu biyolojikal famili histri. If ɛni ɔda pɔsin na yu famili gɛt dɛn sik ya, i impɔtant bak fɔ aks bɔt ustɛm dɛn sik bigin ɛn aw dɛn bin de go bifo kwik kwik wan.

Fɔ mek yu no se yu gɛt di sik, yu dɔktɔ go tɛl yu fɔ tɛst yu jɛnɛtiks fɔ si if yu gɛt Machado-Joseph disease . dis jεnεtik tεst kin luk fכ di nכmba fכ di suspicious CAG triplet dεm we de ripit pan yu kromozom 14.

Aw dɛn kin trit di sik we dɛn kɔl Machado-Joseph (MJD)?

Bɔt i sɔri fɔ no se, no mɛrɛsin nɔ de fɔ di sik we dɛn kɔl Machado-Joseph. Di tritmɛnt fɔ MJD na fɔ manej di sayn dɛm wae yu gɛt. Di mɛrɛsin dɛn kin bi:

• Mεdikeshכn dεm lεk Baclofen (Lioresal®) כ Botulinum toxin (Botox®) de εp fכ ridyus di dystonia εn mכsul dεm we wi bin dכn tכk bכt.
• Levodopa tritmɛnt de ɛp fɔ ridyus di slo ɛn stif we di bɔdi de muv.

Apat frɔm dat, fizik tritmɛnt ɛn di tin dɛn we dɛn kin yuz fɔ ɛp di sikman kin ɛp di sikman fɔ du tin dɛn we dɛn kin du ɛvride ɛn fɔ muv rawnd. Fɔ prɔblɛm dɛn we gɛt fɔ du wit di we aw pɔsin de si, prism glas kin ɛp fɔ ridyus di we aw pɔsin de si tu tɛm ɔ we i nɔ de si fayn.

Aks yu dɔktɔ bɔt klinik trial fɔ dis sik.

Wetin na di layf we pɔsin we gɛt Machado-Joseph disease (MJD) kin liv?

De layf wae pɔrsin wae gɛt MJD kin liv kin dipen pan us kayn sik i gɛt. Pipul wae gɛt tayp I kin gɛt shɔt layf, sɔntɛm na dɛn mid-30s. Bɔt pipul dɛn we gɛt tayp II ɔ tayp III kin liv nɔmal layf span.

Yu tink se dɛn kin ebul fɔ protɛkt di sik we dɛn kɔl Machado-Joseph disease (MJD)?

Bikɔs MJD na sik we pɔsin kin gɛt we i kam pan jɛnɛtiks, i nɔ kin ebul fɔ avɔyd am. If yu de wɔri se yu pikin dɛn go gɛt di sik, i impɔtant fɔ tɔk to pɔsin we de advays yu bɔt yu jɛnɛtiks bifo yu plan fɔ gɛt bɛlɛ. Sɔntɛm we dɛn de fɔ mek dɛn nɔ pas MJD to yu pikin dɛn tru di jenɛtik tɛst wit In Vitro Fɛtilayzeshɔn (IVF) .

Ustɛm a fɔ go to dɔktɔ?

If yu gɛt ɛni sayn fɔ Machado-Joseph sik, go to dɔktɔ. If pɔrsin na yu famili gɛt dis sik, i fayn fɔ tɔk to yu dɔktɔ bɔt yu risk fɔ gɛt dis sik.

Us kwɛstyɔn dɛn a fɔ aks mi dɔktɔ?

If dɛn no se yu gɛt MJD, yu kin aks yu dɔktɔ kwɛstyɔn dɛn lɛk:

• Us kayn sik a gɛt?
• Yu tink se di sik dɛn we a kin gɛt go wɔs as tɛm de go?
• Us kayn tritmɛnt yu kin advays?
• Yu tink se mi pikin dɛn go gɛt MJD frɔm mi?

Na nɔmal tin fɔ gɛt bɔrku kwɛstyɔn ɛn filin wae yu gɛt diagnosis lɛk Machado-Joseph disease (MJD). Aks fɔ sɔpɔt frɔm di wan dɛn we de nia yu. Dɔn bak, bi pɔsin we de tek pat pan yu tritmɛnt - kip yu apɔntinmɛnt, fala yu dɔktɔ in instrɔkshɔn, ɛn aks kwɛstyɔn. Yu kin tɔk bak to pɔrsin wae de gi yu mɛntɛl hεlth fɔ lan aw fɔ bia wit dis sik. Nɔ stɔp di we aw yu de fil. Tɔk to yu padi dɛn, pɔsin we de advays yu, ɔ pɔsin we de sɔpɔt yu. Mɛmba se nɔto yu wangren de.

Mɛsej we dɛn kin kɛr go na os

Machado-Joseph disease (MJD) na wan sik we wi kin gɛt frɔm wi mama ɛn papa we kin afɛkt wi nervɔs sistɛm. I kin afɛkt tin dɛn lɛk balans ɛn kɔntrol di mɔsul dɛn. Di sayn dɛm kin difrɛn difrɛn wan fɔ di kayn sik.

Pan ɔl we dɛn nɔr dɔn gɛt mɛrɛsin fɔ dis yet, tritmɛnt dɛn de wae kin ɛp fɔ kɔntrol de sik. Tin dɛm lɛk fyzikal tritmɛnt ɛn tin dɛm wae de ɛp pɔrsin kin mek layf izi. If yu gɛt dɛn kayn sik ya, ɔr if pɔrsin na yu famili gɛt dis sik, i go fayn fɔ mek yu go to dɔktɔ kwik kwik wan. Mɛmba se if yu gɛt di rayt infɔmeshɔn ɛn sɔpɔt, yu go ebul fɔ bia wit dis sik.

` Machado-Joseph sik, MJD, Spinocerebellar ataxia, ataxia, nyurolɔjik sik, jenɛtik sik, sik dɛn we pɔsin kin gɛt frɔm in mama ɛn papa