Yu gɛt wik mɔsul dɛn bak na yu sholda ɛn hip? Lɛ wi tɔk bɔt Limb-Girdle Muscular Dystrophy (LGMD)!

Sɔntɛnde yu kin fil lɛk se yu sholda, yu an, ɔ yu hip wik smɔl? Yu kin si se i nɔ kin izi fɔ yu fɔ grap na chia ɔ fɔ klaym stej? Sɔntɛnde, yu kin fil lɛk se yu an dɛn wik we yu es sɔntin we ebi? Dɛn tin ya nɔ kin jɔs bi we pɔsin taya na in bɔdi. Tide wi go tɔk bɔt wan sik we nɔ kin bɔku bɔt we rili impɔtant. Dɛn kɔl dis Limb-Girdle Muscular Dystrophy , ɔ LGMD fɔ shɔt tɛm.

Wetin na Limb-Girdle Muscular Dystrophy (LGMD)?

Fɔ tɔk am simpul wan, Limb-Girdle Muscular Dystrophy na wan jɛnɛral wɔd fɔ wan grup we wi kin gɛt frɔm wi mama ɛn papa we kin mek sɔm mɔsul dɛn na wi bɔdi wik smɔl smɔl. Na wan sik wae nɔr de mɛn , dat min se e kin las fɔ ɔl yu layf. I kin afɛkt ɛnibɔdi we ol ɛni ej.

"Limb girdles" na di bon dεm we de rawnd wi sכlda εn hip. Jɔs lɛk di jɔyn dɛn we de kɔnɛkt wi an ɛn leg dɛn to wi bɔdi. so insay dis ``(LGMD)`` kכndishכn, di mכsul dεm we de asai wit dεn sכlda εn hip εria dεm ya de mεntal afekt.

yu kin yeri bak di tεm we dεn kכl ``muscular dystrophy.'' I de tכk bכt wan grup fכ jεnεtik kכndishכn dεm we de afekt di wok we di mכsul dεm de du. pan mכst tכp dεm fכ ``mכskul distrofi,'' di simptom dεm de bכku sכmtεm as tεm de go.

Aw kכmכn dεn kכl dis kכndyushכn LGMD?

infakt, `(Limb-Girdle Muscular Dystrophy)` na sik we nɔ kin bɔku . Jɔs tink se, na kɔntri lɛk Amɛrika, we yu ad ɔl dɛn kayn `(LGMD)` ya, na lɛk tu pipul nɔmɔ i de afɛkt pan ɛvri ɔndrɛd tawzin. If yu kɔmpia am wit di `(Duchenne muscular dystrophy)` we wi no ɛn tɔk bɔt smɔl mɔ (dis na wan kayn `muscular dystrophy` bak), i kin afɛkt lɛk wan pan 3600 bɔy pikin dɛn na Amɛrika. So `(LGMD)` na plenti les komon pas dat.

pan dεn kayn `(LGMD)`, di tכp we kכmכn pas כl na Amɛrika na `(LGMD R1 calpain3-related)`. Dɛn kin kɔl dis bak `(calpainopathy)`. Bitwin 12% ɛn 30% pan ɔl di `(LGMD)` pasɛnt dɛn de pan dis kayn.

Us sayn dɛn wi kin si?

Di men sayn dɛm fɔ Limb-Girdle Muscular Dystrophy na we di mɔsul dɛn wik ɛn di mɔsul dɛn de west ɔ atrophy . Dis kin afɛkt mɔ:

• To di sholda dɛn
• fכ di כp an dεm (di pat pan wi an frכm di sכlda to di εlbo) .
• To di hip eria
• Fɔ di shɔl (di pat pan wi leg frɔm di hip to di ni) .

Di ej we di sik kin bigin, ɛn aw dɛn sik ya kin go bifo kwik kwik wan, kin difrɛn frɔm wan kayn LGMD to ɔda kayn.

Di fɔs sayn dɛm fɔ dis sik na wae i nɔr kin izi fɔ waka . Fɔ ɛgzampul:

• Wan waddling gait kin divɛlɔp, we fiba di wan we dɔk kin waka .
• Frɔm ples fɔ sidɔm, lɛk chia ɔ tɔylɛt sitI at fɔ grap .
• I nɔ kin izi fɔ klaym stej .

Dɔn bak, we di mɔsul dɛn na di sholda ɛn di ɔp an dɛn wik, tin dɛn lɛk dis kin apin:

• I nɔ izi fɔ rich ɔp di ed . Tink bɔt am lɛk we yu pul sɔntin na shelf.
• I at fɔ ol yu an dɛn bifo yu .
• Nɔ ebul fɔ es ebi ebi tin dɛn .
• Sɔm pipul dɛn kin si se i nɔ kin izi fɔ yuz dɛn an ivin fɔ it .

Sɔm kayn LGMD kin gɛt ɔda kwaliti dɛn apat frɔm dɛn wan ya. Sɔm pan dɛn na:

• At prɔblɛm : Fɔ ɛgzampul, tin dɛn lɛk we di at mɔsul dɛn wik (cardiomyopathy), we nɔ de wok fayn fɔ di at, ɔ we di at nɔ de wok fayn.
• I nɔ kin izi fɔ yu fɔ blo .
• I nɔ izi fɔ swɛla it (dysphagia) .
• Contractures , we min se i nɔ izi fɔ bɛn ɛn nɔ bɛn jɔyn.
• Mɔsul dɛn we kin kramp .
• Muscle hypertrophy : Sɔntɛnde, pan ɔl we di mɔsul dɛn wik, dɛn kin tan lɛk se dɛn big frɔm do.
• Wik we di mɔsul dɛn we de fa, lɛk di an ɛn di leg dɛn wik .

Dis kin mek pɔsin gɛt siriɔs prɔblɛm dɛn?

Yes, sɔmtɛm LGMD kin mek sɔm prɔblɛm dɛn. Bɔt nɔto di sem tin fɔ ɔlman. Bɔku tin dɛn de we kin afɛkt am:

• Us kayn `(LGMD)` yu gɛt?
• Na us ej de sik bigin ɛn aw di sik kin go bifo kwik kwik wan.
• Aw gud mɛdikal kia ɛn simptom mɛnejɛmɛnt fasiliti yu gɛt.

Sɔm pan di prɔblɛm dɛn we kin apin na:

• If LGMD bigin na pikin, i kin mek di gros mכtalman skil dεm lεk fכ waka .
• Sɔm kayn tin kin mek yu gɛt prɔblɛm wit yu maynd ɛn i kin mek yu nɔ ebul fɔ lan .
• yu kin si kayfosis ɛn/ɔ skɔliosis , mɔ pan LGMD we kin bigin we dɛn smɔl.
• di lכng fכnshכn kin bכku, we kin mek i gεt rεstrikt lכng sik , i kin bi se i nכ de blo fayn כ i nכ de blo fayn .
• Malnutrishɔn kin apin bikɔs i nɔ kin izi fɔ it ɛn swɛla.

Wetin mek dis de apin? Wetin na di rizin?

di men tin we de mek Limb-Girdle Muscular Dystrophy na di mכtεshכn dεm na di jin dεm.. dis jin dεm de mek di mכsul dεm strכkchכ εn wok fayn fayn wan. So we chenj de na dɛn jin ya, di sɛl dɛn we dɛn se de mek di mɔsul dɛn kɔntinyu fɔ de, nɔ kin ebul fɔ du da wok de fayn. Dis kin mek di mɔsul dɛn wik smɔl smɔl as tɛm de go. spεsifi k jεnεtik chenj dεm de we riliyt to εvri tכp `(LGMD)`.

Dɛn chenj dɛn ya we kin apin na wi jɛnɛtiks na frɔm wi mama ɛn papa. LGMD dεn sheb am to tu men kεtכgrεf, dipכnt pan aw di jin dεm de inhεrit:

• LGMD Grup D : dεn ya kin apin insay wan patεn we dεn kכl ``autosomal dominant inheritance.`` Dis min se di jεnεtik mכtεshכn we de mek di sik kin divεlכp ivin if na wan mama εn papa nכmכ inhεrit am.
• LGMD R grup : dεn ya kin apin insay wan patεn we dεn kכl ``autosomal recessive inheritance.`` Dis min se di jεnεtik mכtεshכn we de mek di sik mכst inhεrit frכm di mama εn papa dεm tu.

Difrɛn kayn LGMD dɛn de?

yes, sεvεra sכbtayp dεm de fכ `(Limb-Girdle Muscular Dystrophy)`. Risach pipul dεm εn dכkta dεm de yuz spεshal nem strכkchכ fכ klas dεn sכbtayp dεm ya. I gɛt di lɛta dɛn "LGMD" ɛn sɔm ɔda tin dɛn:

• aw dεn de inhεrit di jin dεm : di lεta "D" tinap fכ `(autosomal dominant inheritance)`. di lεta "R" tinap fכ `(autosomal rεsεsiv inhεritεns)`.
• Ɔda we dɛn fɛn dɛn : Risach pipul dɛn kin gi dɛn sɔbtayp ya wan nɔmba insay di ɔda we aw dɛn fɛn dɛn.
• di protin כ jin we afekt : dεn sho dis as "[jin כ protin nem]-rεlatεd". Fɔ ɛgzampul, `(calpain3-rilayt)`.

Bɔku kayn tin dɛn de we kin apin to dis. I kɔmplikt smɔl fɔ diskraib ɛni wan pan dɛn, so wi nɔ go go insay di ditel. Bɔt yu dɔktɔ kin tɛl yu mɔ bɔt dis.

Aw dɔktɔ dɛn kin no dis?

If dɛn tink se yu ɔ yu pikin gɛt di sik we dɛn kɔl Limb-Girdle Muscular Dystrophy , i go mɔs bi se dɔktɔ go du in bɔdi ɛgzam , ɛgzam fɔ di nyurolɔjik , ɛn ɛgzam fɔ di mɔsul dɛn . Dɛn go aks yu bɔt yu sik ɛn if ɛnibɔdi na yu famili dɔn gɛt dɛn kayn sik ya.

If yu tink se yu gɛt LGMD, dɛn kin advays yu fɔ du wan ɔ mɔ pan dɛn tɛst ya:

• kriaytin kinaz bכdi tεst : we di mכsul dεm dכn pwεl, wan εnzym we dεn kכl ``kriaytin kinaz`` de kכmכt insay di bכdi. so if in lεvεl go εlevεt, i kin bi sayn fכ wan kכndyushכn we dεn kכl ``mכskul distrofi.``
• jεnεtik tεst dεm : dεn tεst dεm ya kin no di jεnεtik chenj dεm we de asai wit sכm LGMD sכbtayp dεm. Dis na di onli we fɔ kɔnfɔm ɛksaktɔli us LGMD sabtayp yu gɛt .
• Mɔsul bayɔpsi: Dis min se yu fɔ tek smɔl sampul pan yu mɔsul tisu ɛn mek spɛshal dɔktɔ chɛk am ɔnda maykroskɔp. Dis kin ɛp fɔ no if yu gɛt sayn dɛn we gɛt fɔ du wit mɔskul distrofi.
• ilektromayografi (EMG) : Dis tεst de mכsu di ilektrikal aktiviti fכ di mכsul dεm εn di nεv dεm.

If dɛn no se yu ɔ yu pikin gɛt LGMD, bɔku tɛm yu dɔktɔ go ɔda fɔ mek dɛn du tɛst fɔ yu at ɛn yu pulmonari fɔ chɛk aw yu at ɛn yu lɔng dɛn de wok fayn. I impɔtant fɔ no if di sik dɔn afɛkt dɛn ɔgan dɛn de bak.

Wetin na di tritmɛnt dɛn?

I sɔri fɔ no se naw, no mɛrɛsin nɔ de fɔ Limb-Girdle Muscular Dystrophy, bɔt di wan dɛn we de stɔdi bɔt dis de kɔntinyu fɔ wok pan am.

Di men gol fɔ di tritmɛnt dɛm wae de naw na fɔ ɛp fɔ kɔntrol di sik dɛm ɛn fɔ mek yu gɛt bɛtɛ layf . Di tritmɛnt opshɔn dɛn kin difrɛn dipen pan di kayn LGMD we yu gɛt. Sɔm pan dɛn na:

• Fyzikal ɛn wok tritmɛnt : Dɛn tin ya kin ɛp mɔ fɔ mek di mɔsul dɛn strɔng ɛn du ɛksesaiz fɔ strɛch. Dɛn kin ɛp yu fɔ fɛn we fɔ du ɛvride wok izi wan ɛn fɔ mek yu ebul fɔ muv.
• Kɔtikosterɔyd : Kɔtikosterɔyd lɛk prednisolone ɛn deflazacort kin ɛp fɔ mek di mɔsul dɛn wik, fɔ mek di lɔng dɛn wok fayn, fɔ mek di bak pen slo, ɛn fɔ mek di kadyomayopathy go bifo kwik kwik wan. Bɔt dɛn nɔ de wok fɔ ɔl kayn LGMD. Dɛn kin ɛp mɔ fɔ sɔm kayn dɛn, lɛk LGMD R9 FKRP-rilayt.
• Di tin dɛn we kin ɛp pɔsin fɔ muv : Divays dɛn lɛk ken, bres, waka, ɛn wilchia kin mek i izi fɔ waka ɛn fɔ go rawnd, i kin ɛp fɔ mek pɔsin nɔ fɔdɔm, ɛn i kin ɛp fɔ mek i nɔ taya.
• Ɔpreshɔn : Sɔm pipul dɛn we gɛt LGMD kin nid ɔpreshɔn fɔ mek dɛn nɔ gɛt tɛnsiɔn na di tayt mɔsul dɛn ɛn fɔ kɔrɛkt di skɔliosis.
• Di kia fɔ di we aw yu de blo : Di tin dɛn we de ɛp yu fɔ kɔf ɛn di tin dɛn we yu de yuz fɔ blo kin ɛp fɔ mek i izi fɔ blo. If yu nɔ ebul fɔ blo bad bad wan, dɛn kin nid fɔ du tracheostomy (we de mek ol na di nɛk fɔ ɛp fɔ blo) ɛn ɛp fɔ mek yu blo.
• Hat kia : Mεdikeshכn dεm lεk ACE inhibitors εn/כ beta-blockers, if dεn stat am kwik, i kin slo di prכgreshכn fכ di kכdiכmayopathy εn mek di at fεil. Pesmɛka kin ɛp fɔ trit prɔblɛm wit di at ritm ɛn di at we nɔ de wok fayn.
• Spich therapy: Dis tritmɛnt kin fayn fɔ di wan dɛn we nɔ kin izi fɔ swɛla.
• Klinik trial : Dipen pan di kayn LGMD we yu gɛt ɛn usay yu de, yu kin gɛt di chans bak fɔ tek pat pan nyu klinik trial. Na wan nɔmba we de gro pan klinik trial dɛn we de go bifo naw fɔ LGMD.

Bɔku tɛm, dɛn kin nid wan tim we gɛt spɛshal pipul dɛn fɔ manej LGMD, fɔ yu ɛn yu pikin. Dɛn tin ya kin bi nyurolɔjist, fysiatrist, jenɛtiks, ɔtpidist, fizik thɛrapist, wok tɛrapist, kadyolɔg, pulmonɔlɔjis, sayɛnsman, ɛn soshal woka.

Wetin na di lukin-grɔn fɔ pɔsin we gɛt LGMD?

I at fɔ mek di wan dɛn we de du risach ɛn di dɔktɔ dɛn tɔk bɛtɛ bɛtɛ wan wetin na di prɔgnosis fɔ pɔsin we gɛt LGMD. Bɔt yu mɛdikal tim go gi yu bɔku tin dɛn bɔt wetin fɔ ɛkspɛkt.

Jɛnɛral wan, if LGMD bigin we dɛn smɔl, di sik kin go bifo kwik kwik wan ɛn kɔmplikeshɔn kin apin mɔ . Bɔt if LGMD bigin we pɔsin yɔŋ ɔ we i big, i nɔ kin rili bad ɛn di sik kin go bifo smɔl smɔl .

Aw lɔng yu go ebul fɔ liv wit dis?

di avrej layfspan fכ pכsin we gεt LGMD de dipכnt bכku pan us sכbtayp LGMD dεn gεt εn aw i de go bifo kwik kwik wan . In jɛnɛral, pipul dɛm wae gɛt LGMD wae gɛt kɔmplikeshɔn, lɛk hat sik ɛn wae nɔr kin ebul fɔ blo fayn, kin gɛt shɔt layf pas di wan dɛm wae nɔr gɛt dɛn kayn kɔmplikeshɔn ya.

Yu tink se we de fɔ mek dis nɔ apin?

Bikɔs Limb-Girdle Muscular Dystrophy na wan sik we pɔsin kin gɛt frɔm in jɛnɛtiks, naw natin nɔ de we dɛn kin du fɔ mek i nɔ apin .

If yu de plan fɔ bɔn pikin ɛn yu de wɔri se yu go de pas LGMD ɔ ɔda sik dɛn we yu gɛt frɔm yu jɛnɛtiks, i go fayn fɔ mek yu tɔk to yu dɔktɔ bɔt aw fɔ advays yu bɔt yu jɛnɛtiks .

If yu gɛt LGMD, sɔm tin dɛn de we yu kin du fɔ mek yu nɔ gɛt ɔ delay fɔ mek yu nɔ gɛt prɔblɛm ɛn fɔ mek yu kwaliti layf bɛtɛ:

• It gud it we gɛt tin fɔ it fɔ mek yu nɔ gɛt bɛtɛ it.
• Drink bɔku wata fɔ mek yu nɔ gɛt wata na yu bɔdi ɛn yu nɔ go gɛt kɔnstipɛshɔn.
• Du layt to mɔdaret ɛksɛsayz lɛk aw yu mɛdikal tim se.
• Mek yu gɛt wɛlbɔdi wet .
• Nɔ smok fɔ protɛkt yu lɔng ɛn at.
• Gɛt vaysin dɛn di rayt tɛm .

Aw a go kia fɔ pɔsin we gɛt LGMD? Ɔ wetin a go du if a gɛt am?

If yu gɛt Limb-Girdle Muscular Dystrophy, ɔ if yu de kia fɔ pɔsin we gɛt am, i impɔtant fɔ advatayz ɛn fɛn di bɛst mɛrɛsin ɛn tritmɛnt . If yu du dat, dat go ɛp yu fɔ kɔntinyu fɔ liv di bɛst layf.

Yu ɛn yu famili kin jɔyn sɔpɔt grup dɛn bak . Dis go gi yu di chans fɔ mit ɔda pipul dɛn we dɔn ɛkspiriɛns di sem tin lɛk yu, tɔk to dɛn, ɛn sheb dɛn aydia. I go bi big tin we go mek wi gɛt trɛnk.

Ustɛm a fɔ go to dɔktɔ?

If yu gɛt Limb-Girdle Muscular Dystrophy, yu fɔ si yu mɛdikal tim ɔltɛm fɔ gɛt tritmɛnt ɛn fɔ wach yu sik dɛn.

Fɔ ɔndastand aw yu gɛt Limb-Girdle Muscular Dystrophy (LGMD) kin tranga. Bɔt yu mɛdikal tim kin ɛp yu fɔ mek wan manejmɛnt plan we go fayn fɔ yu sik dɛn. Di tin we impɔtant pas ɔl na fɔ mek shɔ se yu gɛt di sɔpɔt we yu nid ɛn de pe atɛnshɔn pan yu wɛlbɔdi biznɛs . Mɛmba se yu mɛdikal tim de ɔltɛm fɔ ɛp yu ɛn yu famili.

Fɔ dɔn, tin dɛn we wi fɔ mɛmba

Limb-Girdle Muscular Dystrophy (LGMD) na wan jεnεtik kכndyushכn we de wik sכmtεm di mכsul dεm na di sכlda εn hip εria dεm. Pan ɔl we na sik we nɔ kin apin so ɔltɛm, i impɔtant fɔ no bɔt di sayn dɛm.

• Di men sayn dɛm : Di mɔsul dɛm na di sholda, di ɔp an, di hip, ɛn di shɔl kin wik, i nɔ kin izi fɔ waka, ɛn i nɔ kin ebul fɔ es di wet.
• Rizin : Difrɛns pan jɛnɛtiks.
• Tritmɛnt : Naw, no mɛrɛsin nɔ de fɔ mɛn am. Di gol na fɔ kɔntrol di sayn dɛm ɛn fɔ mek yu gɛt bɛtɛ layf. Fizik tritmɛnt, wok tɛrapi, ɛn if nid de, mɛrɛsin ɛn divays dɛn impɔtant.
• Di tin we impɔtant pas ɔl : fɔ no di sik kwik kwik wan, fɔ gi yu di rayt mɛrɛsin ɛn tritmɛnt. Famili sɔpɔt ɛn sɔpɔt grup dɛn bak rili impɔtant.

If yu gɛt ɛni ɔda kwɛstyɔn bɔt dis, nɔ fred fɔ tɔk to yu dɔktɔ. Dɛn go ɛp yu.

` limb-girdle muscular dystrophy, LGMD, mכsul wik, jεnεtik sik, sכlda pen, hip pen, tritmεnt, mכsul distrofi sinhala, mכsul west