Yu gɛt prɔblɛm bak we de mek yu leg dɛn stif ɛn wik? Lɛ wi tɔk bɔt Hereditary Spastic Paraplegia

Sɔntɛnde yu kin fil lɛk se yu leg dɛn kin shek shek smɔl we yu de waka, lɛk se yu nɔ ebul fɔ kɔntrol dɛn? Yu kin trip pan sɔntin we smɔl ɛn fɔdɔm, ɔ i nɔ kin izi fɔ yu fɔ es yu leg we yu de klaym stej? Sɔntɛm dɛn tin ya nɔto jɔs ɔda tin dɛn. Tide wi go tɔk bɔt wan kɔndishɔn we kin afɛkt di leg dɛn, we kin kɔmplikt smɔl, bɔt i rili impɔtant fɔ no. Dat na wan kכndyushכn we dεn kכl ``Hεreditary Spastic Paraplegia``.

Wetin na dis hereditary spastic paraplegia?

Fɔ tɔk am simpul wan, dis na grup we gɛt tin dɛn we pɔsin kin gɛt frɔm dɛn mama ɛn papa . "Inherited" min se yu kin gεt di kכndyushכn tru di jin dεm frכm yu mama, papa, כ כda famili mεmba dεm. "Spastic paraplegia" de tכk bכt di stiffness (`(spasticity)`) εn we di mכsul dεm na yu leg dεm de wik sכmtεm . Dɛn sayn ya nɔ kin kam wantɛm wantɛm, bɔt dɛn kin bɔku smɔl smɔl as tɛm de go .

Fɔs, yu kin fil sɔm kayn prɔblɛm we yu de waka. Yu kin aksidɛntli trip pan sɔntin ɔ trip pan smɔl ston na rod. Dis na bikɔs yu nɔ ebul fɔ es yu leg fayn fayn wan. As tɛm de go, dis sik kin wɔs ɛn fɔ waka kin denja. Sɔm pipul dɛn kin nid fɔ yuz tik, tin fɔ waka, ɔ ivin wilchia fɔ ɛp dɛn fɔ waka afta sɔm ia.

Yu kin yɛri sɔmtɛm dɔktɔ dɛn kin yuz ɔda nem fɔ dis sik:

• `(Familial spastik paraparesis)`
• `(Hɛridit spastik paraparesis)`
• `(Strümpell-Lorrain sindrom)`

I nɔ mata us nem yu gi am, i min di sem mɛrɛsin.

Yu tink se kayn `(Hɛriditari Spastik Paraplejia)` de?

Yɛs, i pas 80 kayn dis sik. Dɛn gi ɛni kayn nɔmba, lɛk `(SPG1)`, `(SPG2)`, insay di ɔda we aw dɛn bin fɛn am. Bɔt dɔktɔ dɛn kin sheb dɛn tin ya to tu men grup dɛn:

1. Nɔr kɔmplikt (ɔ Pure) Tayp: Na lɛk 90 pasɛnt pan di pipul dɛm wae gɛt dis sik gɛt dis simpul kayn . di men simptom dεm na di mכsul dεm we de stiff (`(spasticity)`) εn di wik we di lεg dεm we wi bin dכn tכk bכt.

2. Kɔmplikɛt kayn: Di ɔda 10 pasɛnt gɛt dis kɔmplikɛt kayn . Apat frɔm we yu leg kin stif ɛn wik, yu kin gɛt bɔku ɔda nyurolɔjik sayn dɛn bak we gɛt fɔ du wit yu bren, yu spɛnal kɔd, ɛn yu nervɔs sistɛm .

Aw dis sik kin kɔmɔn?

I at fɔ tɔk ɛksaktɔli ɔmɔs pipul dɛn gɛt ``Hereditary Spastic Paraplegia''. Dis na bikɔs di sayn dɛm kin tan lɛk ɔda sik dɛm , ɛn bɔku tɛm dɛn nɔ kin no di rayt we . Risach pipul dɛm se bitwin wan (`1`) ɛn fayv (`5`) pipul dɛm pan ɛvri ɔndrɛd tawzin pipul dɛm na di wɔl kin gɛt dis sik.

Wetin na di sayn dɛm fɔ `(Hereditary Spastic Paraplegia)`?

Di tu men sayn dɛm fɔ dis sik kin afɛkt di mɔsul dɛm na yu leg dɛm:

• Spastisiti we pɔsin kin gɛt
• Wik

Bɔt i kin dipen pan di kayn sik, ɔda sayn dɛn kin apin bak.

Ɔda tin dɛn we de insay di kayn we we nɔ kɔmplikt:

• Di leg dɛn kin swɛ ɔ nɔ kin fil fayn, mɔ di fut dɛn we de na di fut .
• I nɔ izi fɔ kɔntrol di urine .
• Fɔ fil se yu nid fɔ pis ɔ fɔ pul dɔti wantɛm wantɛm, ivin we yu blad ɔ yu bɔdi nɔ ful-ɔp.

Ɔda kwaliti dɛn we di Kɔmplikɛt tayp gɛt:

Insay dis kayn, di rεnj fɔ di sayn dɛm kin rili bɔku. Fɔ ɛgzampul:

• Di mental fכnshכn we de dכn lεk fכ tink εn mεmכri (dimεnshכn) .
• difεlεns fכ mεnten bεlε εn nכ ebul fכ kכdכnayt di aktiviti dεm (ataxia).
• Prɔblɛm dɛn na di yay lɛk we yu nɔ de si fayn, katarakt, optik atrofi, ɔ retinopathy.
• Yu nɔ de yɛri fayn (`(Yu nɔ de yɛri fayn)`) .
• I nɔ kin izi fɔ lan, i nɔ kin ebul fɔ ɔndastand ɔ i nɔ kin ebul fɔ divɛlɔp igen.
• Smɔl smɔl fɔ west di mɔsul mas (`(atrophy)`) .
• di damej pan di nεv dεm na di an εn leg dεm (peripheral neuropathy) .
• I nɔ izi fɔ blo (dyspnea), i nɔ kin izi fɔ tɔk (aphasia), ɔ i nɔ kin izi fɔ swɛla (dysphagia) .
• Di simptom dɛm fɔ ɛpilepshi (`(Seizures)`) .
• Sɔm pipul dɛn kin gɛt tik tik dray skin we tan lɛk fish skel (`(ichthyosis vulgaris)`) .

Imajin aw i nɔ kin izi fɔ gɛt jɔs wan ɔ tu pan dɛn sik ya. So fɔ gɛt fɔ liv wit bɔku pan dɛn sik ya na big prɔblɛm.

Wetin kin mek yu gɛt `(Hɛritɛri Spastik Paraplejia)`?

Di men rizin fɔ dis na we di jin dɛn chenj, we dɛn kɔl jɛnɛtik we de chenj . Ɔl di wok dɛn we wi bɔdi de du na di instrɔkshɔn dɛn we wi kin gɛt frɔm di jin dɛn. We dɛn jin ya chenj, di instrɔkshɔn dɛn we di prɔtin dɛn kin gi nɔ kin kɔrɛkt . Dɔn dɛn prɔtin dɛn de nɔ kin ebul fɔ du dɛn wok fayn fayn wan. dis kin afekt di wok we di nεv dεm na yu spεnal kכd de wok dairekt wan. Bɔku difrɛn jɛnɛtik muteshon kin mek dis sik.

Dis kכndyushכn, we dεn kכl ``Hεreditary Spastic Paraplegia'', na inhεrit . Dis min se yu fɔ dɔn gɛt at le wan kɔpi fɔ di jin fɔ am frɔm yu mama ɛn papa. Bɔku we dɛn de we dis kin apin:

• `Autosomal dominant`: Dis kin apin we na wan pan yu mama ɛn papa nɔmɔ gɛt di trayt.Dis sik kin apin we di jin we de mek dis sik de.
• `Autosomal recessive`: insay dis kes, di sik de כnli divεlכp if yu gεt di jin frכm yu mama εn papa. If na wan mama ɔ papa nɔmɔ yu gɛt am, yu kin gɛt di sik, bɔt yu nɔ go sho di sayn dɛn.
• `X-linked`: insay dis, di mama (uman mama εn papa) de pas dis jin to in man pikin tru wan sεks kromozom.
• di maytochכndrial inhεritεns: insay dis, di mama de pas di kכndyushכn to in pikin (i nכ mata if na jεnda) tru wan maytochכndrial jin .

Pan ɔl we i nɔ kin apin so ɔltɛm, sɔntɛnde dɛn chenj ya na di jɛnɛtiks kin apin randomly, we min se dɛn kin apin to nyu pɔsin we nɔ gɛt ɛni famili histri (sporadic) .

Udat dɛn kin gɛt dis sik pas ɔlman?

enibodi kin gεt dis kכndyushכn, we dεn kכl ``Hereditary Spastic Paraplegia.`` כltu, if wan כ tu pan yu mama εn papa kכri di jin mכtεshכn we de asai wit dis sik, yu de pan hכy risk fכ gεt dis kכndyushכn .

Wetin na de prɔblɛm wae kin kam wit dis sik?

Hereditary Spastic Paraplegia kin mek sɔm ɔda sayd ɛfɛkt dɛn, lɛk:

• Pen na di bak ɛn di ni.
• Fut dɛn kin fil kol ɔltɛm.
• Fɔ fil taya ɔltɛm (`(Fatigue)`) .
• I de flip ɛn shɔt.

Fɔ liv wit prɔblɛm fɔ waka, we tin dɛn we bin izi fɔ du naw nɔ izi, sɔm tɛm dɛn kin ivin denja, kin gɛt big impak pan yu maynd wɛlbɔdi . Dis kin mek yu gɛt tin dɛn lɛk strɛs ɛn pwɛl at . If yu fil se yu gɛt mɔ bad de pas gud de, nɔ shem fɔ tɔk to yu dɔktɔ bɔt am . Dɛn kin rifer yu to mɛntɛl hεlth kɔlnɔ wae kin ɛp yu fɔ no aw de sik de afɛkt yu filin.

Aw dɛn kin no dis sik `(Hereditary Spastic Paraplegia)`?

Dɔktɔ go du in bɔdi ɛgzam, nyurolɔjik ɛgzam, ɛn sɔm ɔda spɛshal tɛst dɛn fɔ no dis sik. We dɛn de du dɛn tɛst ya, di dɔktɔ go tek tɛm luk pan yu sik dɛn ɛn yu ɛn yu famili in mɛdikal istri. I go luk bak fɔ:

• Sɛnsitiviti fɔ tɔch.
• Bɔdi balans.
• Kɔdinɛshɔn fɔ di akshɔn dɛn.
• Mental pefɔmɛns.
• Motor fכnshכn (abiliti fכ muv arawnd).
• Riflɛks dɛn.

Afta dɛn tin ya, if di dɔktɔ sɔspɛkt se `(Hereditary Spastic Paraplegia)`, i kin tɔk bɔt sɔm tɛst dɛn lɛk:

• Ilɛktromayografi (EMG): Dis min se yu fɔ put smɔl smɔl nidul dɛn insay yu mɔsul dɛn ɛn rayt aw yu nɛv dɛn de ansa we smɔl smɔl ilɛktrik signal dɛn de. Dis kin gi yu gud aidia bɔt aw yu mɔsul ɛn nerv dɛn de wok .
• Jɛnɛtik tɛst : Dɛn kin tek wan sɛmpul pan yu blɔd ɔ saliva fɔ chɛk fɔ si if di jɛnɛtik chenj dɛn we de mek yu gɛt di sik .
• Magnetic Resonance Imaging (MRI) scan: Dis kin yuz magnɛtik wev, redio wev, ɛn kɔmpyuta fɔ mek ditayli pikchɔ dɛn bɔt di tisu dɛn na yu bren ɛn yu spɛnal kɔd . I kin sho abnɔmal tin na di bren fɔ sɔm pipul dɛn we gɛt kɔmpleks HSP.
• spεnal tap (Lumbar pancture) : insay dis, dεn kin put wan tin nidul insay yu lכw bכk εn dεn kin pul sכm sכm sכm sεribrospaynal fכluid (CSF) frכm di εria we de rawnd yu bren εn spεnal kכd fכ tεst.

Sɔmtɛm i kin tek sɔm tɛm fɔ no dis sik kɔrɛkt wan , bikɔs di sayn dɛm fɔ `(Hereditary Spastic Paraplegia)` kin rili fiba di sayn dɛm fɔ ɔda sik dɛm lɛk:

• Sεribra palsi (`(Sεribra palsi)`)
• Mכltipכl sklεrosis (`(Mכltipl sklεrosis)`)
• `(Pelizaeus-Merzbacher sik)`
• di spεnal stεnosis (we di spεnal kanal de sכmtεm sכmtεm) .

Aw dɛn kin trit `(Hereditary Spastic Paraplegia)`?

Bɔt i sɔri fɔ no se, no mɛrɛsin nɔ de fɔ di Hereditary Spastic Paraplegia. Bɔt sɔm tritmɛnt dɛn de we kin ɛp fɔ kɔntrol di sik ɛn mek layf izi smɔl. Dɛn tin ya na:

• Di mɛrɛsin dɛn: Na mɛrɛsin dɛn we de mek di mɔsul dɛn nɔ stif (we de mek di mɔsul dɛn rilaks), dɛn kin put botulinum pɔyzin, ɛn baklɔfen.
• Fizik tritmɛnt : Ɛksesaiz fɔ mek di mɔsul dɛn strɔng, fɔ mek yu ebul fɔ chenj, ɛn fɔ mek yu balans fayn fayn wan.
• Occupational therapy : Fɔ introduks trenin ɛn ikwipmɛnt fɔ ɛp yu fɔ du ɛvride wok izi wan.
• Speshal shuz sɔpɔt (Orthotics) : Fɔ mek i izi fɔ waka ɛn fɔ mek di fut kɔntinyu fɔ de di rayt pozishɔn.
• Divays dɛn we de ɛp fɔ muv: ken, stik, splin, ɔ wilchia.

Dipen pan di kayn sik we yu gɛt, yu dɔktɔ kin tɛl yu ɔda tritmɛnt dɛn.

Aw di fiuja go tan lɛk fɔ pɔsin we gɛt `(Hereditary Spastic Paraplegia)`?

Dis kin rili dipen pan aw di sik dɛn kin tranga . As wi bin dɔn tɔk, dis sik de go bifo. Bɔku tɛm, i kin apin sloslo, fɔ sɔm ia . Dis kin mek yu nɔ ebul fɔ waka fɔ yusɛf smɔl smɔl, ɛn yu nid tin fɔ ɛp yu fɔ muv.

If yu gɛt ɔda nyurolɔjik sayn dɛm, i kin afɛkt yu kwaliti fɔ liv . Pipul wae gɛt dis sik kin nid sɔm ɛp ɛn sɔpɔt ɔlsay na dɛn layf.

Yu tink se Hereditary Spastic Paraplegia kin mek yu layf shɔt?

Bɔrku tɛm, dis sik `(Hereditary Spastic Paraplegia)` nɔr kin afɛkt yu layf ɛkspɛkteshɔn . Bɔt pan sɔm patikyula, kɔmpleks kayn dis sik, di tin kin difrɛn smɔl. Di bɛst pɔsin fɔ no bɔt dis na yu dɔktɔ. I kin ɛksplen wetin yu go ɛkspɛkt bay di sik we yu gɛt.

Wan we de fɔ mek dɛn nɔ gɛt dis sik?

No we nɔ de we dɛn no fɔ mek dɛn nɔ gɛt Hereditary Spastic Paraplegia. Bikɔs na tin we pɔsin kin gɛt frɔm yu jɛnɛtiks, if yu want fɔ no bɔt di prɔblɛm we yu gɛt fɔ gɛt dis sik ɛn ɔda tin dɛn we yu kin gɛt frɔm yu jɛnɛtiks, yu kin tɔk to pɔsin we de gi advays bɔt yu jɛnɛtiks ɛn no bɔt aw fɔ tɛst yu jɛnɛtiks .

Ustɛm a fɔ go to dɔktɔ?

If yu dɔn gɛt dɛn sik ya, if i tan lɛk se dɛn de wɔs as tɛm de go, ɔ if yu gɛt nyu sik, mek shɔ se yu tɛl yu dɔktɔ. I kin ajɔst yu tritmɛnt plan as nid de ɛn ɛp yu fɔ mɛn dis sik we de wɔs.

Us kwɛstyɔn dɛn a fɔ aks mi dɔktɔ?

We yu kam fɔ no se yu ɔ pɔsin we yu sabi gɛt `(Hereditary Spastic Paraplegia)`, yu kin gɛt bɔku kwɛstyɔn dɛn na yu maynd. Fɔ ɛgzampul:

• Us kayn spastik paraplejia a gɛt?
• Us kayn tritmɛnt yu kin kɔmɛnt fɔ mi?
• Ɛni bad tin de we dɛn tritmɛnt ya kin du?
• A go nid fɔ yuz tik, waka, ɔ wilchia?
• Us wok dɛn a go du sef wan?

Na nɔmal tin fɔ fil bad we yu lan bɔt wan jenɛtik kɔndishɔn lɛk dis. Kwɛshɔn dɛm lɛk "Aw a gɛt dis?", "Ɛnibɔdi na mi famili gɛt am?", "Mi sik go wɔs?" kin kam na yu maynd. Bɔt nɔ wɔri. Yu dɔktɔ go de wit yu pan dis joyn ɛn ansa ɔl yu kwɛstyɔn dɛn.

Dɛn sik ya kin bigin pan ɛni ej ɛn dɛn kin wɔs smɔl smɔl as tɛm de go. Sɔntɛnde, ivin simpul, ɛvride wok dɛn, lɛk fɔ waka wit yu animal ɔ fɔ rayd baysikul, kin bi prɔblɛm. Sɔntɛnde, fɔ du dɛn tin ya kin denja. Yu kin nid fɔ lan nyu we fɔ du tin dɛn we go wok fɔ yu bɔdi, ɔ tek ɛkstra tɛm fɔ avɔyd aksidɛnt. Yu dɔktɔ go gi yu advays we dɛn mek fɔ yu fɔ mek yu sef ɛn gɛt wɛlbɔdi.

## Impɔtant Tin dɛn fɔ Mɛmba (Tek-Home Message)

Okay, so a op se yu naw geht beta aidia boht di `(Hereditary Spastic Paraplegia)` we wi bin tok boht.

Di tin we impɔtant pas ɔl na fɔ go to dɔktɔ if yu tink se yu gɛt dɛn sik ya. If dɛn no am kwik, tritmɛnt dɛn de we go ɛp fɔ kɔntrol di sik ɛn ɛp yu fɔ liv nɔmal layf as yu ebul.

• Mɛmba se dis nɔto yu fɔlt . Dis na wan sik we pɔsin kin gɛt we i kam pan jɛnɛtiks.
• Pan ɔl we tritmɛnt nɔ go ebul fɔ mɛn di sik kpatakpata, dɛn kin ebul fɔ kɔntrol di sayn dɛm .
• Fizik tritmɛnt ɛn ɔkupeshɔn tɛrapi na tu rili impɔtant tritmɛnt we fɔ pipul dɛm wae gɛt dis sik.
• Tek kia ɔf yu maynd wɛlbɔdi bak . Nɔ shek fɔ aks fɔ ɛp if yu nid am.
• Nɔto yu wan de. Dɔktɔ, tritmɛnt pipul, ɛn pipul dɛm wae yu lɛk de pan dis joyn wit yu fɔ ɛp yu.

Wi op se dis infɔmeshɔn go fayn fɔ yu. Stay wit wɛlbɔdi!

` Hereditary Spastic Paraplegia, Leg stiffness, Leg wik, Nyurolכjik sik, Jεnεtik sik, Fכ waka