stiff baby syndrome yati hyperekplexia taypi uñstawi ukhamarak qhanañchäwi

Stiff baby syndrome (hyperekplexia) ukaxa kuns uñt'ayasi?

Stiff baby syndrome (hyperekplexia) ukaxa mä jisk'a neurologist unqäwiwa, kawkïritixa wawanakan ch'amanchäwinakaxa ch'allqtata ukat ch'allxtata uñstiri. Aka unqäwixa wawanakan ch'amanchäwinakapaxa walja ch'allxtata ukat ch'allqtata lurasiñapatakiw yanapt'i. Jilpachaxa wawanakax mä juk'a ch'allxtata jan ukax q'ala ch'allqtata uñstatawa. Kunjamatixa mä jisk'a wawa qullasirinakarux juk'amp sum uñt'añäni, taqi kunas sumäskaspas ukhamawa.

Aka unqäwixa walja sutiniwa, ukanakax akhamarakispawa:

• Congenital stiff-person syndrome (Congenital stiff-person syndrome)
• Hereditary hyperekplexia (Hereditary hyperekplexia)
• Startle disease (Startle disease)
• Startle syndrome (Startle syndrome)
• Stiff-baby syndrome

Kunjamarak akaxa uñstaski? (How common is this condition?)

Aka unqäwixa walja jisk'a wawanakan walja kutix janiw uñstkiti, mä juk'amp janiw uñstkiti. Mä arunxa, mä waranqa wawanakatxa mäkiw uñstasmawa. Jupanakax janiw sapa kutix jikiskkiti, ukampisa mä juk'amp jan walt'awi uñstiriw uñstasmawa. Kunjamasa, jupanaka uñjañataki ukaxa mä juk'amp sumawa.

Kunatjamarak hyperekplexia unqäwixa uñstaski? (What are the symptoms of Hyperekplexia?)

Aka unqäwixa pä jach'a uñstawiwa, mä jach'a form (Major form) ukat mä jisk'a form (Minor form).

Jach'a form (Major form)

Aka unqäwixa mä jach'a ch'allxtata jan ukax ch'allqtata uñstiriwa, kawkïritixa wawa mä ch'allqtata jikxatasi, jupan ch'amanchäwinakapaxa ch'allqtata ukat ch'allxtata uñstiri. Kunjamatis wawa ikt'askaspa ukhamarakiw ch'allqtata uñstasmawa. Jupanaka unqäwinakapaxa walja kasta uñstasmawa:

• Hyperreflexia (ch'amanchäwinakan jach'anchäwipa)
• Intermittent apnea (samäwi jark'asiwi, samäwi jisk'anchäwi)
• Unstable gait (janiw sum sarnaqaskiti)
• Hip dislocation at birth (nasintan ququr ch'allt'ata)
• Inguinal hernias (jisk'a ch'allxtata)

Jisk'a form (Minor form)

Aka jisk'a form ukaxa mä juk'amp janiw jach'äkiti, jan ukasti mä juk'amp jisk'a ch'allxtata uñstiriwa. Jupanakax janiw walja unqäwimpi uñstkiti, ukampisa temperatura (fever) uka jiltasaxa ch'allxtataw jiltasmawa. Jilïrirunakaxa ukat jisk'a wawanakaxa estrés jan ukax ch'allqtata uñstasinxa jiltasmawa.

Kunatsa aka hyperekplexia unqäwixa uñstaski? (Why does this hyperekplexia occur?)

Aka unqäwixa jilpachaxa genetic mutations (genéticas uñt'äwinaka) ukatwa uñstiri. Jichha pachanakatxa phiska jach'a gen (genes) uñt'awayatawa, ukanakax wawanakan ch'amanchäwinakaparuw yanapt'i ukat ch'allqtata uñstiriwa.

Kunatjamarak unqäwixa uñstasma? (What are the complications of this condition?)

Aka unqäwixa mä juk'amp janiw walt'awi uñstasmawa. Kunjamatis wawanakan samäwi jark'asiwi (apnea) uñstasmawa, uka pachpanx wawanakax jan walin uñstasmawa. Jichhakamaxa, wawanakax sum uñjañataki ukat qullasirinakarux uñt'ayañataki wali wakiskiriwa.

Kunjamarak aka unqäwixa uñt'asi? (How do you diagnose this?)

Jiwasaxa qullasirinakaxa (local family clinic / primary health center) wawanakax kunjamasa uñt'apxtañäni ukwa qhanañchawayapxtañäni. Qullasirinakax wawanakan unqäwinakaparu uñacht'ayapxiwa, ukat mä jach'a hospital (nearest hospital emergency department) ukankir specialist ukaruw apayanipxiwa, kawkïritixa DNA testing jan ukax electromyography (EMG) lurañataki.

Kuna qullasiñasa wakisi? (Is there a treatment for Hyperekplexia?)

Arí, qullasirinakax clonazepam suti qulla uñt'ayapxiwa. Aka qullaxa wawanakan ch'amanchäwinakaparu ukat ch'allxtata jark'añatakiw yanapt'i. Ukampisa, qullasirinakax wawanakarux sum uñjañataki ukat juk'amp yanapt'añatakiw qullasipxiwa.

Kunjamarak jutïr pachanxa uñstasma? (What will the future hold in this situation? - Prognosis)

Jilpachaxa wawanakax qullasirinakampi ukat qullanakampi sumäskaspax, jupanakax jach'äritanx sum sarnaqasipxarakiwa. Jach'äritanx mä juk'a ch'allxtatakiw sañani, ukampisa jupanakax sum sarnaqasipxarakikiwa.

Kunjamarak aka unqäwi jark'aqasipxasma? (Can this be prevented?)

Aka unqäwixa gen (genética) ukatwa uñstiri, ukhamasti janiw q'ala jark'aqasirjamäkiti. Ukampisa, familianxa mä kasta unqäwi uñt'asipxaspax, qullasirinakarux yatiyasiñapataki ukat genetic counselor ukaruw uñt'ayañataki wakisi.

Kunjamarak wawanakarux uñjañasa? (How do I take care of my child?)

Wawanakax sum uñjañataki, mä q'ala ch'allxtata ukat ch'allqtata uñstaski ukhaxa, janiw wawanakarux ch'allqtayañax wakiskiti. Ruido ukat mä juk'a ch'allqtata unxtäwinaka jark'aqasipxasma. Qullasirinakarux sapa kutiw uñt'ayañataki.

Kunkaqirinakasa qullasirinakarux jiskt'asipxasma? (What questions should I ask my doctor?)

• Wawanakajaxa stiff baby syndrome (hyperekplexia) unqäwinitati?
• Kuna qullasixa jan ukax qullasa wawanakajatakix wakisi?
• Kuna pachanakarakiw qullasirinakarux wawanakajamp mantañasa?
• Jutïr pachanxa wawanakajaxa sum sarnaqasispati?