Ataxias ea lefutso
Lintlha tsa Bohlokoa Bakeng sa Bakuli

Ke eng?

Hereditary ataxias (HA) e kenyelletsa mefuta e mengata ea mafu a futsitsoeng moo letšoao le ka sehloohong e leng ataxia. Ataxia e bolela metsamao e sa tsamaisaneng, e bohlasoa le mathata a ho tsamaea ka tahlehelo ea botsitso. Liphetoho liphatseng tse itseng tsa lefutso li baka HA. Maemong a mangata, lefu lena le ama litho tse fetang bonngoe ba lelapa; leha ho le joalo, ka linako tse ling ha ho na histori ea lelapa ho hang. Ho HA, ataxia hangata ha se eona feela matšoao. Matšoao a mang a methapo ea kutlo a ka kenyelletsa:

• Butle le ho thothomela (ho thothomela)
• Ho sotha, ho reteleha kapa motsamao o mong o sa laoleheng (dystonia)
• Boikutlo bo sa sebetseng hantle joalo ka bohatsu, ho hlohlona le ho chesa maotong le matsoho, ka bofokoli ba mesifa kapa ntle le eona (neuropathy)

Litho tse ling le tsona li ka ameha, tse kang pelo (cardiomyopathy) kapa mahlo (retinopathy).
 

E Ruuoa Joang?

Ho na le mekhoa e mene ea mantlha ea ataxia e ka futsoang:

• Lefa le ka sehloohong la Autosomal: Ho hlokahala feela ho rua lefutso le le leng le sa tloaelehang ho motsoali e mong le e mong. Motho ea nang le lefutso le sa tloaelehang o na le monyetla oa 50% oa ho fetisetsa lefutso ho ngoana.
• Lefa la Autosomal recessive: O tlameha ho rua lefutso le sa tloaelehang ho batsoali ka bobeli. Haeba motsoali e mong le e mong a e-na le lefutso le le leng le sa tloaelehang, ngoana e mong le e mong o na le monyetla oa 25% oa ho rua liphatsa tsa lefutso tse sa tloaelehang le ho ba le lefu lena. Hangata batsoali ke bajari feela 'me ba phetse hantle ntle le matšoao a lefu lena.
• Ataxia e amanang le X: Lefutso le sa tloaelehang le ho chromosome ea X 'me lefutso le fetela ho 'm'a (hangata le phetseng hantle) ho ea ho ngoana.
• Mitochondrial ataxia: Lefu lena le hlaha ha DNA ea mitochondrial e na le lefutso le sa tloaelehang. Mitochondria ke likarolo tsa lisele tse hlahisang matla. Hangata lefu lena le fetisoa ke ’mè.
   

Tse ling tse tloaelehileng tsa Ataxias ke life?

Li-ataxias tse futsitsoeng ke Autosomal

Spinocerebellar ataxias (SCA): Hona joale, ~ 36 mefuta e sa tloaelehang ea liphatsa tsa lefutso e tsejoa ho baka SCAs. Hangata li-SCA li qala qalong ho isa lilemong tsa batho ba baholo. Ho phaella ho ataxia, u ka 'na ua ba le:

• Metsamao ya mmele e sa laoleheng, e sa tlwaelehang
• Mathata a tlhokomelo, monahano le mohopolo
• Liphetoho ponong le/kapa metsamao ea mahlo e sa tloaelehang
• Ho tsieleha ha leoto le letsoho, ho hlohlona, ​​ho chesa (neuropathy)

Episodic ataxias: Li-ataxias tsena li qala bongoaneng 'me li kenyelletsa liketsahalo tse khutšoanyane tse pheta-phetoang tsa ataxia le ho tsekela hangata ho bakoang ke boikoetliso.
 

Autosomal e futsitse ka mokhoa o feteletseng ataxias

Hangata mafu ana a qala pele ho lilemo tse 20. Ka kakaretso ke mafu a rarahaneng le a holofatsang. Mofuta o tloaelehileng haholo Europe le Amerika Leboea ke Ataxia ea Friedreich. Ho na le tlhahlobo ea mali ea liphatsa tsa lefutso e ka netefatsang tlhahlobo. Matšoao a ka kenyelletsa:

• Ho lahleheloa ke kutlo
• Mokokotlo o sa tloaelehang oa mokokotlo (kyphoscoliosis)
• Mathata a pelo (cardiomyopathy)
• lefu la tsoekere
   

Ataxia e amanang le X

Mafu ana a kenyelletsa Fragile X-associated Tremor-Ataxia (FXTAS) syndrome.

Mitochondrial ataxias

Mafu ana a kenyelletsa: [WM1] 

• Myoclonic epilepsy ragged red fire syndrome (MERRF) syndrome
• Neuropathy, ataxia le retinitis pigmentosa (NARP)
• Kearns-Sayre syndrome
• Mathata a amanang le POLG (ataxia neuropathy spectrum)
   

E Lemohuoa Joang?

Ho hlahloba ataxia, ngaka e hlahloba matšoao a hau ka botlalo. U ka lebella ho:

• Arolelana histori ea meloko e meraro ea lelapa
• Etsa tlhahlobo ea 'mele le ea methapo
• Fumana litšoantšo leha e le life tse hlokahalang (bokooa ba CT kapa MRI) le liteko tsa laborateng

Mokhoa o le mong feela oa ho fumana tlhahlobo e nepahetseng ke ka tlhahlobo ea liphatsa tsa lefutso ho tsoa maling kapa sampole ea mathe. Leha ho le joalo, haeba tlhahlobo ea liphatsa tsa lefutso e le ntle u ka 'na ua ba le lefu la lefutso kaha ke liphatsa tsa lefutso feela tse tsejoang 'me li ka hlahlojoa. Tlhabollo ea liphatsa tsa lefutso e ka 'na ea u thusa ho utloisisa kotsi ea lefutso bakeng sa hau le litho tsa lelapa la hau ho ba le HA le ho thusa ka thero ea malapa.
 

Na ho na le Kalafo?

Li-ataxia tse ling tse sa tloaelehang tsa lefutso li na le phekolo e khethehileng. Leha ho le joalo, li-ataxias tse ngata li phekoloa feela bakeng sa matšoao. U ka ntlafatsa boleng ba bophelo ba hau ka:

• Phekolo ea 'mele
• Phekolo ea puo
• Phekolo ea mosebetsi
• Lisebelisoa tsa bongaka ho rarolla mathata a itseng

 

Copyright © 2018 International Parkinson le Movement Disorder Society (MDS). Litokelo tsohle li sirelelitsoe.