Ngaba nawe unengxaki eyenza imilenze yakho iqine kwaye ibe buthathaka? Makhe sithethe ngeHereditary Spastic Paraplegia

Ngaba ngamanye amaxesha uziva ngathi imilenze yakho iyaxengaxenga xa uhamba, ngokungathi awunalawulo kuyo? Ngaba uyakhubeka kwinto encinci uze uwe, okanye ngaba unengxaki yokuphakamisa imilenze yakho xa unyuka izinyuko? Ezi zisenokungabi zezinye izinto nje. Namhlanje siza kuthetha ngemeko echaphazela imilenze, eyinkimbinkimbi kancinci, kodwa ebaluleke kakhulu ukuyazi. Leyo yimeko ebizwa ngokuba yi-"Hereditary Spastic Paraplegia".

Yintoni le ngxaki yokungakwazi ukuzala ngenxa yokuphazamiseka kwengqondo?

Ngamafutshane, eli liqela leemeko ezizuzwa njengelifa . "Ilifa" lithetha ukuba ungalizuza njengelifa le meko nge-genes evela kumama wakho, utata, okanye kwamanye amalungu osapho. "I-Spastic paraplegia" ibhekisa ekuqineni (`(spasticity)`) kunye nobuthathaka obuhamba kancinci bemisipha emilenzeni yakho . Ezi mpawu aziveli ngequbuliso, kodwa ziyanda kancinci kancinci ngokuhamba kwexesha .

Ekuqaleni, ungaziva ungakhululekanga xa uhamba. Ungakhubeka ngento ethile ngengozi okanye ukhubeke kwilitye elincinci endleleni. Oku kungenxa yokuba awukwazi ukuphakamisa umlenze wakho ngokufanelekileyo. Ekuhambeni kwexesha, le meko inokuba mandundu kwaye ukuhamba kunokuba yingozi. Abanye abantu banokufuna ukusebenzisa intonga, i-walker, okanye nesihlalo esinamavili ukuze sibancede bahambe emva kweminyaka embalwa.

Usenokuva oogqirha ngamanye amaxesha besebenzisa amanye amagama kule meko:

• `(I-paraparesis ye-spastic yentsapho)`
• `(I-paraparesis ye-Spastic efunyenwe yiHereditary)`
• `(Isifo sikaStrümpell-Lorrain)`

Nokuba uyibiza ngaliphi igama, ithetha imeko efanayo yempilo.

Ngaba kukho iintlobo ze-`(Hereditary Spastic Paraplegia)`?

Ewe, kukho iintlobo ezingaphezu kwama-80 zesi sifo. Uhlobo ngalunye lunikwa inani, elifana nelithi `(SPG1)`, `(SPG2)`, ngokulandelelana kwalo. Kodwa oogqirha bayahlulahlula laba ngamaqela amabini aphambili:

1. Uhlobo olulula (okanye olucocekileyo): Malunga nama-90 ekhulwini abantu abanesifo banalo olu hlobo lulula . Iimpawu eziphambili kukuqina kwemisipha (`(spasticity)`) kunye nobuthathaka emilenzeni esithethe ngayo ngaphambili.

2. Uhlobo oluntsonkothileyo: Iipesenti ezili-10 eziseleyo zinolu hlobo luntsonkothileyo . Ukongeza ekuqineni kwemilenze kunye nobuthathaka, unokufumana nezinye iimpawu zemithambo-luvo ezinxulumene nengqondo yakho, umqolo, kunye nenkqubo yemithambo-luvo .

Ixhaphake kangakanani le meko?

Kunzima ukutsho ngqo ukuba bangaphi abantu abane-"Hereditary Spastic Paraplegia". Oku kungenxa yokuba iimpawu ziyafana nezezinye izifo , kwaye zihlala zingachongwa kakuhle . Abaphandi baqikelela ukuba phakathi komntu omnye (`1`) kunye nabahlanu (`5`) kwikhulu lamawaka abantu kwihlabathi liphela banokuba nesi sifo.

Zithini iimpawu ze-`(Hereditary Spastic Paraplegia)`?

Iimpawu ezimbini eziphambili zesi sifo zichaphazela izihlunu emilenzeni yakho:

• Ukuqina kwemisipha
• Ubuthathaka

Nangona kunjalo, kuxhomekeke kuhlobo lwesifo, ezinye iimpawu zinokubonakala.

Iimpawu ezongezelelweyo zohlobo olulula:

• Ukuba ndindisholo okanye ukuphelelwa yimvakalelo emilenzeni, ingakumbi ezinyaweni zeenyawo .
• Ubunzima bokulawula umchamo .
• Ukuziva ufuna ukuchama okanye ukukhupha indle ngequbuliso, nokuba isinyi okanye amathumbu awagcwalanga.

Ezinye iimpawu zohlobo lwe-Complicated:

Kolu hlobo, uluhlu lweempawu lubanzi kakhulu. Umzekelo:

• Ukungasebenzi kakuhle kwengqondo okufana nokukwazi ukucinga kunye nenkumbulo (i-dementia) .
• Ubunzima bokugcina ibhalansi kunye nokungakwazi ukulungelelanisa imisebenzi (i-ataxia).
• Iingxaki zamehlo ezifana nokungaboni kakuhle, i-cataracts, i-optic atrophy, okanye i-retinopathy.
• Ukulahlekelwa kukuva (`(Ukulahlekelwa kukuva)`) .
• Ubunzima bokufunda, ukuphazamiseka kwengqondo okanye ukulibaziseka kokukhula.
• Ukuncipha kancinci kancinci kwemisipha (`(atrophy)`) .
• Ukonakala kwemithambo-luvo engalweni nasemilenzeni (peripheral neuropathy) .
• Ubunzima bokuphefumla (ukuphelelwa ngamandla), ubunzima bokuthetha (i-aphasia), okanye ubunzima bokuginya (ukuphelelwa ngamandla) .
• Iimpawu zesifo sokuwa (`(Ukuxhuzula)`) .
• Abanye abantu banokuba nolusu oluqinileyo nolomileyo olufana namaxolo eentlanzi (`(ichthyosis vulgaris)`) .

Khawuthelekelele indlela ekunzima ngayo ukuba nenye okanye ezimbini zezi mpawu. Ngoko ke ukuphila nezi mpawu zininzi kangaka ngumceli mngeni omkhulu.

Yintoni ebangela i-`(Hereditary Spastic Paraplegia)`?

Isizathu esiphambili soku kukutshintsha kwezakhi zofuzo, okubizwa ngokuba yi-genetic variant . Yonke imisebenzi yomzimba wethu ilawulwa yimiyalelo efunyenwe kwiizakhi zofuzo. Xa ezi zakhi zofuzo zitshintsha, imiyalelo efunyenwe ziiproteni ayichanekanga . Emva koko ezo proteni azikwazi ukwenza umsebenzi wazo ngokufanelekileyo. Oku kuchaphazela ngqo ukusebenza kwemithambo-luvo emqolo wakho. Iinguqu ezahlukeneyo zezakhi zofuzo zinokubangela le meko.

Le meko, ebizwa ngokuba yi-"Hereditary Spastic Paraplegia", ifunyanwa njengelifa . Oku kuthetha ukuba kufuneka ukuba ufumene ubuncinane ikopi enye yejini evela kubazali bakho. Zininzi iindlela oku okunokwenzeka ngazo:

• `I-Autosomal dominant`: Oku kwenzeka xa omnye kuphela kubazali bakho ezuza olu phawu njengelifa.Esi sifo senzeka xa kukho i-gene ebangela esi sifo.
• `I-Autosomal recessive`: Kwimeko enjalo, esi sifo sivela kuphela ukuba uzuze i-gene kumama wakho nakutata wakho. Ukuba uyizuze kumzali omnye kuphela, usenokuba ngumthwali wesifo, kodwa ungabonakalisi zimpawu.
• `X-linked`: Kule nto, umama (umzali ongumfazi) udlulisela esi jini kumntwana wakhe oyinkwenkwe nge-chromosome yesondo.
• Ilifa le-Mitochondrial: Kule meko, umama udlulisela esi sifo kumntwana wakhe (kungakhathaliseki ukuba siyintoni na isini) nge -mitochondrial gene .

Nangona kungaqhelekanga, ngamanye amaxesha olu tshintsho lwemfuza lunokwenzeka ngokungacwangciswanga, oko kuthetha ukuba lunokwenzeka kumntu omtsha ngaphandle kwembali yosapho (ngokungacwangciswanga) .

Ngubani osengozini enkulu yesi sifo?

Nabani na anokuba nale meko, ebizwa ngokuba yi-``Heroditary Spastic Paraplegia``. Nangona kunjalo, ukuba omnye okanye bobabini abazali bakho banesifo sofuzo esihambelana nesi sifo, usemngciphekweni omkhulu wokufumana esi sifo .

Ziziphi iingxaki ezinokubakho zesi sifo?

I-Hereditary Spastic Paraplegia inokubangela ezinye iziphumo ebezingalindelekanga, kuquka:

• Intlungu emqolo nasemadolweni.
• Iinyawo zihlala ziziva zibanda.
• Ukuziva udiniwe ngalo lonke ixesha (`(Ukudinwa)`) .
• Ukujika nokunciphisa iinwele.

Ukuphila nobunzima bokuhamba, xa izinto ezazilula ngoku zinzima, ngamanye amaxesha zide zibe yingozi, zinokuba nefuthe elikhulu kwimpilo yakho yengqondo . Oku kunokukhokelela kwiimeko ezifana noxinzelelo kunye nokudakumba . Ukuba uziva ngathi uneentsuku ezimbi ngakumbi kuneentsuku ezilungileyo, ungabi nazintloni zokuthetha nogqirha wakho ngaloo nto . Banokukuthumela kumcebisi wezempilo yengqondo onokukunceda ulawule indlela imeko echaphazela ngayo iimvakalelo zakho.

Sifunyaniswa njani esi sifo `(Hereditary Spastic Paraplegia)`?

Ugqirha uza kwenza uvavanyo lomzimba, uvavanyo lwemithambo-luvo, kunye nezinye iimvavanyo ezikhethekileyo ukuze kufunyaniswe esi sifo. Ngexesha lovavanyo, ugqirha uza kujonga ngokweenkcukacha iimpawu zakho kunye nembali yakho yezonyango kunye neyentsapho yakho. Uza kujonga nezi zinto zilandelayo:

• Uvakalelo xa uchukumisa.
• Ukulinganisela umzimba.
• Ukulungelelaniswa kwezenzo.
• Ukusebenza kwengqondo.
• Umsebenzi wemoto (ukukwazi ukuhambahamba).
• Ukucamngca.

Emva kwezi zinto, ukuba ugqirha urhanela ukuba `(Hereditary Spastic Paraplegia)`, angacebisa ezinye iimvavanyo ezifana nezi:

• I-Electromyography (EMG): Oku kuquka ukufaka iinaliti ezincinci kwimisipha yakho nokurekhoda indlela imithambo-luvo yakho esabela ngayo kwimiqondiso emincinci yombane. Oku kunokukunika umbono olungileyo wendlela ezisebenza ngayo izihlunu kunye nemithambo-luvo yakho .
• Uvavanyo lwemfuza : Kuthathwa isampulu yegazi okanye amathe akho ukuze kujongwe utshintsho lwemfuza olubangela esi sifo .
• Iskena seMagnetic Resonance Imaging (MRI): Esi skena sisebenzisa amaza emagnethi, amaza erediyo, kunye nekhompyutha ukwenza imifanekiso eneenkcukacha zezicubu zobuchopho bakho kunye nomqolo . Sinokubonisa iingxaki engqondweni yabanye abantu abane-HSP entsonkothileyo.
• Ukutsalwa komqolo (ukubhobozwa kwethambo) : Kule meko, kufakwa inaliti encinci emqolo wakho ongezantsi kwaye kususwa ulwelo lwe-cerebrospinal (CSF) kwindawo ejikeleze ingqondo yakho kunye nomqolo ukuze kuvavanywe.

Ngamanye amaxesha kungathatha ixesha ukuxilonga esi sifo ngokuchanekileyo , kuba iimpawu ze-`(Hereditary Spastic Paraplegia)` zinokufana kakhulu neempawu zezinye izifo ezifana nezi:

• I-Cerebral palsy (`(I-Cerebral palsy)`)
• I-Multiple sclerosis (`(I-Multiple sclerosis)`)
• `(Isifo sikaPelizaeus-Merzbacher)`
• I-spinal stenosis (ukuncitshiswa komjelo womgogodla)

Iphathwa njani i-`(Hereditary Spastic Paraplegia)`?

Ngelishwa, akukho nyango lweHereditary Spastic Paraplegia. Nangona kunjalo, kukho unyango olunokunceda ukulawula iimpawu kwaye lwenze ubomi bube lula. Ezi ziquka:

• Amayeza: Amayeza anciphisa ukuqina kwemisipha (iziphumlisi zemisipha), iinaliti zetyhefu ye-botulinum, kunye ne-baclofen.
• Unyango lomzimba : Ukuzilolonga ukuqinisa izihlunu, ukwandisa ukuguquguquka, kunye nokuphucula ibhalansi.
• Unyango lomsebenzi : Ukwazisa uqeqesho kunye nezixhobo zokukunceda wenze imisebenzi yemihla ngemihla ngokulula.
• Izixhasi zezihlangu ezikhethekileyo (ii-Orthotics) : Ukwenza ukuhamba kube lula nokugcina unyawo lukwindawo efanelekileyo.
• Izixhobo ezinceda ekushukumeni: intonga, iintonga, ii-splints, okanye isitulo esinamavili.

Ngokuxhomekeke kuhlobo lweempawu zakho, ugqirha wakho unokucebisa ezinye iindlela zonyango.

Liza kuba njani ikamva kumntu one-`(Hereditary Spastic Paraplegia)`?

Oku kuxhomekeke ngokwenene kubukhali beempawu . Njengoko besitshilo ngaphambili, esi sifo siyaqhubeka. Sihlala senzeka kancinci kakhulu, kangangeminyaka . Oku kunokukhokelela ekulahlekelweni kancinci kancinci kokukwazi ukuhamba ngokuzimela, kunye nesidingo sokuncedisa ukuhamba.

Ukuba unezinye iimpawu ze-neurological, oku kunokuchaphazela umgangatho wobomi bakho . Abantu abanezi meko banokufuna uncedo kunye nenkxaso ebomini babo bonke.

Ngaba iHereditary Spastic Paraplegia iyabunciphisa ubomi obulindelekileyo?

Ngokwesiqhelo, esi sifo `(Hereditary Spastic Paraplegia)` asiyichaphazeli ixesha ophila ngalo . Nangona kunjalo, kwezinye iintlobo ezithile nezintsonkothileyo zesi sifo, imeko inokuba yahlukile kancinci. Umntu ofanelekileyo ukwazi ngale nto ngugqirha wakho. Angachaza into onokuyilindela ngokusekelwe kwimeko yakho.

Ngaba ikho indlela yokuthintela esi sifo?

Akukho ndlela eyaziwayo yokuthintela i-Hereditary Spastic Paraplegia. Ekubeni sisifo semfuza, ukuba ufuna ukwazi ngomngcipheko wakho wokufumana esi sifo kunye nezinye iimeko zemfuza, ungathetha nomcebisi wemfuza uze ufumane ulwazi malunga novavanyo lwemfuza .

Ndifanele ndimbone nini ugqirha?

Ukuba sele unazo ezi mpawu, ukuba zibonakala zisiba mandundu ngokuhamba kwexesha, okanye ukuba ubonakalisa iimpawu ezintsha, qiniseka ukuba wazise ugqirha wakho. Angalungisa isicwangciso sakho sonyango njengoko kufuneka aze akuncede ukulawula le meko imbi.

Ndingayibuza yiphi imibuzo ugqirha wam?

Xa ufumanisa ukuba wena okanye umntu omaziyo une-`(Heroditary Spastic Paraplegia)`, usenokuba nemibuzo emininzi engqondweni yakho. Umzekelo:

• Luhlobo luni lwe-spastic paraplegia endinalo?
• Luhlobo luni lonyango olundicebisayo?
• Ngaba kukho naziphi na iziphumo ebezingalindelekanga kwezi ndlela zonyango?
• Ngaba kuya kufuneka ndisebenzise intonga, i-walker, okanye isitulo esinamavili?
• Zeziphi izinto endinokuzenza ngokukhuselekileyo?

Kuqhelekile ukuziva uxinezelekile xa ufunda ngemeko yemfuza efana nale. Imibuzo efana nokuthi "Ndiyifumene njani le nto?", "Ngaba kukho umntu onayo kusapho lwam?", "Ngaba iimpawu zam ziya kuba mandundu?" isenokufika engqondweni. Kodwa ungakhathazeki. Ugqirha wakho uza kuba nawe kolu hambo aze aphendule yonke imibuzo yakho.

Ezi mpawu ziqala nakweyiphi na iminyaka kwaye zinokwanda kancinci kancinci ngokuhamba kwexesha. Ngamanye amaxesha nemisebenzi elula yemihla ngemihla, njengokuhamba nesilwanyana sakho sasekhaya okanye ukukhwela ibhayisekile, inokuba ngumceli mngeni. Kwezinye iimeko, ukwenza ezi zinto kunokuba yingozi. Kusenokufuneka ufunde iindlela ezintsha zokwenza izinto ezisebenzela umzimba wakho, okanye uthathe ixesha elongezelelweyo lokwenza izinto ezinokunceda ukuthintela iingozi. Ugqirha wakho uya kukunika iingcebiso ezenzelwe wena ukuze uhlale ukhuselekile kwaye usempilweni.

## Izinto ezibalulekileyo ekufuneka uzikhumbule (Umyalezo oya nawo ekhaya)

Kulungile, ngoko ke ndiyathemba ukuba ngoku unembono engcono malunga ne-`(Heroditary Spastic Paraplegia)` esithethe ngayo.

Eyona nto ibalulekileyo kukufuna iingcebiso zonyango ukuba ukrokrela ukuba unazo ezi mpawu. Ukuba zifunyenwe kwangethuba, kukho unyango olunokunceda ukulawula iimpawu kwaye lukuncede uphile ubomi obuqhelekileyo kangangoko kunokwenzeka.

• Khumbula, oku akulona ityala lakho . Esi sisifo semfuza.
• Nangona unyango lungenakusinyanga ngokupheleleyo esi sifo, iimpawu zinokulawulwa .
• Unyango lomzimba kunye nonyango lomsebenzi ziindlela ezimbini ezibaluleke kakhulu zonyango kubantu abaphila nesi sifo.
• Nawe khathalela impilo yakho yengqondo . Ungathandabuzi ukucela uncedo ukuba uyalufuna.
• Awuwedwa. Kukho oogqirha, abagqirha bezonyango, kunye nabantu obathandayo abakolu hambo kunye nawe ukukunceda.

Siyathemba ukuba olu lwazi luluncedo kuwe. Hlala usempilweni!

I- Hereditary Spastic Paraplegia, Ukuqina kwemilenze, Ubuthathaka bemilenze, Izifo ze-Neurological, Izifo ze-genetic, Ubunzima bokuhamba