Matšoao le Phekolo ea SBMA
Boloetse ba Kennedy, bo tsejoang hape e le sepalesa sa spinal bulb muscular atrophy kapa SBMA, ke lefu le nang le lefu la kelello le futsitsoeng. Mathata a Kennedy a ama lisele tse khethehileng tsa meriana tse laolang mesifa e tsamaeang (haholo-holo, methapo ea tlaase ea motlakase), e nang le boikarabelo ba ho sisinyeha ha mesifa e mengata ea matsoho le maoto. E boetse e ama methapo e laolang mesifa ea bulbar, e laolang ho hema, ho metsa le ho bua.
Boloetse ba Kennedy bo ka boela ba lebisa ho androgen (li-hormona tsa banna) ho se natse ha motho e leng se bakang matsoele a atolositsoeng ho banna, ho fokotseha ho ba le mokokotlo, le ho hlaseloa ha testicular.
Kalanedy lefu le bakoa ke bothata ba lefutso la chromosome ea X (e tšehali). Kaha banna ba na le X e le 'ngoe feela ea chromosome, ba anngoe haholo ke lefu lena. Basali ba nang le li-chromosome tse peli, ba ka 'na ba e-na le liphatsa tsa lefutso tsa X chromosome e le' ngoe, empa e 'ngoe ea X chromosome e tloaelehileng e fokotsa kapa e pata matšoao a lefu lena. Maloetse a Kennedy a hakanngoa a etsahala ho batho ba 1 ho ba 40 000 lefatšeng ka bophara.
Matšoao a Maloetse a Kennedy
Ka karolelano, matšoao a qala ho batho ba lilemo li 40-60. Matšoao a tla butle-butle, 'me a kenyeletsa:
- Bofokoli le mesifa ea mesifa matsohong le maotong
- Bofokoli ba mesifa ea sefahleho, molomo le maleme. Sefuba se ka 'na sa senya kapa sa sisinyeha,' me lentsoe le ka 'na la e-ba lesoba haholoanyane.
- Ho senya mesifa e nyenyane e ka bonoang tlas'a letlalo.
- Ho thothomela kapa ho thothomela ka maemo a itseng. Matsoho a ka thothomela ha a leka ho nka kapa ho tšoara ntho e itseng.
- Bonngoe kapa tahlehelo ea maikutlo ho likarolo tse itseng tsa 'mele.
Kaladeny e ka ba le liphello tse ling 'meleng, ho akarelletsa:
- Gynecomastia , e bolelang ho atolosoa ha lisele tsa matsoele ho banna
- Testicular Atrophy, moo litho tsa banna tsa ho ikatisa li fokolang ka boholo le ho lahleheloa ke mosebetsi.
Ho lemoha boemo
Ho na le maloetse a mangata a neuromuscular a nang le matšoao a tšoanang le a Kennedy lefu, kahoo ho senyeha ha maikutlo kapa ho hlahlojoa ha maikutlo ho ka 'na ha e-ba tloaelehileng.
Hangata, batho ba nang le lefu la Kennedy ba nahanoa hore ba na le amyotrophic lateral sclerosis (ALS, kapa lefu la Lou Gehrig). Leha ho le joalo, ALS, hammoho le mathata a mang a tšoanang, ha a akarelletse mathata a endocrine kapa tahlehelo ea maikutlo.
Tlhahlobo ea liphatsa tsa lefutso e ka netefatsa hore na lefu la Kennedy le na le lefu la X chromosome. Haeba tlhahlobo ea liphatsa tsa lefutso e le ntle, ha ho liteko tse ling tse lokelang ho etsoa ha ho hlahlojoa li ka etsoa ho tsoa ho liphatsa tsa lefutso feela.
Phekolo ea SBMA
Boloetse ba Kennedy kapa SBMA ha bo ama bophelo ba nako ea bophelo, kahoo phekolo e lebisitsoe ho ho boloka mesifa e sebetsang bophelong bohle ba hae ka litsela tse latelang tsa phekolo:
- Phekolo ea 'mele
- Phekolo ea basebetsi
- Phekolo ea puo
Mefuta ena ea phekolo ke ea bohlokoa bakeng sa ho boloka bokhoni ba motho le ho fetola boemo ba lefu lena. Lisebelisoa tse amohelehang tse kang ho sebelisa li-canes kapa likooa tsa likoloi li ka thusa ho boloka botsitso le boikemelo.
Ho fana ka keletso ea liphatsa tsa lefutso
Kalanedy lefu le amahanngoa le chromosome ea X (e tšehali), kahoo haeba mosali e le mojaro oa liphatsa tsa lefutso, bara ba hae ba na le menyetla ea 50% ea hore bothata bona le barali ba hae ba na le menyetla ea 50 ea ho ba sesebelisoa.
Bo-ntate ba ke ke ba fetisetsa boloetse ba Kennedy ho bana ba bona. Leha ho le joalo, barali ba bona ba tla jara liphatsa tsa lefutso tse nang le bokooa.
Lisebelisoa:
Barkhaus, PE (2003). Boloetse ba Kennedy.
Mokhatlo oa Kennedy oa Mafu. "Mafu a Kennedy ke Eng?"