Kal harsatna leh taksa thunun theih lohna: Friedreich-a Ataxia chungchang hi han sawi ila.

I kal laiin i inthlak nghal mai emaw, a dik zawk chuan i balance hloh ang maiin i inhriat ngai em? A nih loh leh, i kut hmanga thil sawi emaw, thlen emaw i harsat em? Chûngte chu hahna mai ni lovin thil thuk zâwk chhinchhiahna a ni thei. Vawiin hian kan ramah hian mi tam takin an la hriat ngai loh, mahse kan hriat chian a pawimawh hle. Chu chu Friedreich -a Ataxia (FA) a ni.

Friedreich-a Ataxia (FA) hi eng nge ni tak tak?

A awlsam zawngin sawi ila, genetic disease a ni a, hun kal zelah kan nervous system a tichhe zauh zauh a, taksa chetna pangngai lo, kal, tawng leh ei harsat bakah mit leh hriatna a tichhe bawk.

Kan taksa chhunga nerve awmte hi telephone wire angin ngaihtuah rawh. Heng nerve te hian thluak atanga taksa peng dang thlengin thuchah an keng tel thin. He inbiakpawhna hi kan taksa pengte kan tihchet theih nan te, kan kal theih nan te, leh kan thusawi theih nan te a pawimawh hle. FA-ah chuan heng nerve wire te hi zawi zawiin an chak lo va, hna an thawk tha tawh lo.

He natna hian kan thluak hmun cerebellum an tih pawh a nghawng bawk . He part hi kan taksa che vel leh balance control nan a pawimawh hle. Mahse a tha ber chu, FA natna hian i hriatrengna, i finna leh i ngaihtuahna a nghawng lo. Chumi awmzia chu, he natna hi nei mah la, i ngaihtuahna chu a pangngai reng tihna a ni.

Engvangin nge hetiang hi a lo awm?

Hei hi genetic condition a ni vek. Chhungkaw hrang hrangah thlah khat atanga thlah dangah a kal zel tihna a ni. I hriat angin kan taksaa thil awm zawng zawng hi gene-in a thunun vek a ni. He natna thlentu hi FXN an tih gene a chhiat vang a ni. Miin he natna hi a vei theih nan chuan he FXN gene chhia copy hi a nu leh pa hnen atangin a rochun a ngai a ni.

FXN gene hian taksa chu protein bik frataxin tih siam turin a hrilh a ni . He protein hi kan cell, a bik takin nerve cell leh heart muscle cell te tan chakna siam chhuah nan a pawimawh hle. FXN gene chhia pahnih i neih chuan taksain frataxin protein hi a siam tling thei lo.

He protein hi a tlakchham chuan cell te hian chakna an siam tha thei lo mai ni lovin, thil tha lo tak tak, a bik takin iron te chu cell chhungah a lo awm tan thin. Hun a kal zel a, hei hian nervous system a tichhe a, FA symptoms a thlen bawk.

He natna lan chhuah dan berte chu engte nge ni?

Kum 5 leh 15 inkar atanga a lan chhuah dan a ni tlangpui a, mahse, a chang chuan a hma emaw, a hnu rei zawk emaw, puitlingah emaw a lang thei.

A lan chhuah hmasak ber chu ding leh kal harsatna te, leh balance hloh te hi a ni . Doctor te chuan hei hi gait ataxia an ti a . Hun a kal zel a, heng symptoms te hi a pung zauh zauh a, symptom thar a lo lang thei bawk.

Engtin nge he natna hi dik taka i hriat theih?

Nang emaw, i fain doctor i hmuh chuan i taksa a enfiah hmasa ang a, i natna lan chhuah dan tur zawhna a zawt hmasa ang che. A bik takin a hnuaia mite hi a ngaihven ang:

• Balance problem i nei em?
• I ruh (joint)-ah hian feeling i hloh tawh em?
• Reflexes te hi a bo tawh em?
• Nervous system nena inzawm symptom dang a awm em?

Doctor chuan heng symptoms te avang hian hei hi FA a ni thei tih a rinhlelh chuan genetic test atan a refer ngei ang che. Chu test hmang chauh chuan FXN gene-ah hian chhiatna a awm leh awm loh chu chiang takin kan hre thei ang.

Chu bâkah, thinlung leh nerve-te chhiatna engzat nge a awm tih hriat nân test dang engemaw zât tih theih a ni bawk:

• MRI emaw CT scan emaw hmangin thluak leh ruhro enfiah a ni.
• Electromyogram (EMG) test hmanga taksa ruh leh nerve hnathawh dan enfiah a ni.
• Nerve conduction study hian nerve kal tlanga message kal chak dan a enfiah thin.
• Electrocardiogram (EKG/ECG) leh/ emaw echocardiogram (Echocardiogram) hmangin thinlung hnathawh dan enfiah rawh .
• Thisen test a, thisen sugar level leh vitamin E level enfiah thin.

Hei hi eng enkawlna nge ni?

Tunah hian FA hi damdawi a la awm lo. Mahse, a natna lan chhuah dan enkawl dan tur leh nun awlsam zawka siam turin thil tam tak i tih theih a awm. Tun hnai khan United States-a FDA chuan he natna atan hian damdawi pakhat Skyclarys (omaveloxolone) tih chu a pawm a ni.

I doctor, physiotherapist leh specialist dangte pawhin an pui ang che. Enkawlna ruahmannaah hian:

• Surgery emaw, hnungzang na emaw, ke ruh tliak emaw tan special support (braces) hman emaw.
• Taksa a chak thei ang bera awm reng turin Physical therapy.
• Thusawi leh ei leh in lama harsatna nei tan Speech therapy.
• Kea kal awlsam zawk nan pheikhawk bik, tiang, wheelchair ang chi hmanrua.
• A tul chuan natna damdawi.
• Zunthlum leh he natna nena lo awm thei thinlung lam natna te enkawl.

Rilru hriselna leh tanpuina dawn

Hetiang natna hmuh tur awm lo, tihdam theih loh i nei tih i hriat hian i rilru a buai a, i mangang tih hi thil pangngai a ni. Chuvang chuan i taksa hriselna ang bawka i rilru hriselna ngaihtuah a pawimawh em em a ni.

Depression hi enkawl theih a ni tih hre reng ang che.Chhûngte leh ṭhiante nêna i rilru put hmang sawipui chu thlamuanna nasa tak a ni thei bawk. Nangmah ang bawka natna vei mi dangte i hmuh theihna tur support group-a tel hian nangmah chauha awm lo turin a pui thei che a ni.