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free120/Block 3/Question#18 (reveal difficulty score)
A 23-year-old woman comes to the physician ...
The patient's DMD carrier status is uncertain because of random X inactivation 🔍 / 📺 / 🌳
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 +3 
submitted by bwdc(664),
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MDD is Xlnie.kd- We ownk reh omm is a ecrirar dbsea on almify tris,yoh suedpprto yb lab eist.ngt utB reh mom sha 2 X moh,moscoers lyno noe of ichwh si edtau.tm eehrT si on way ot nkow iwhhc her uhtgedra uvlelaenty eceivrse and epsesesxr by ehr hoenyeppt .e(i if ehs si a earrric ro .no)t uJts abcseue hre CK si alrnmo dn’oest anem hse n’sit a taecrir–erh ypnpteeho of eht ldeX-kin crrriae sepddne on tncaatnXi.ivoi-

em_goldman  sI ativXc-toinnia nto rynomlda iamcso toruhgthuo sit?sesu yM kinnhtgi is that rdnoma, nuiirbdeysl-eedvtt X itcoaiatnv lwuod esacu toabu lfah~ mtoyspsm x(e ettR eoy,srdnm elikXnd- damnnito lfata in erotu in mlaes tub relbsuaviv in leafsem deu ot c-intii)navoX.at So yuo ese rhe mom hwti udserp)em( ldaieost nadseecri KC, cwhih ouy wodlu xpeetc in ehr fi she saw osla a rrcei.ar abyMe otpetrenina si bilrveaa os uod'y nede eitcgne intgest to nfroimc for seru ;-g&t hte nasroe esh ntoeds' evha ypstmmos is itvcaani.tix-on +3  



 +3 
submitted by claptain(25),
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I do'nt utaddrnnse hsti qnutsei.o yTeh tqaeue rriettsacusr-a ot eanm facefedt yb teh .lleeal eW oknw reh rthome si a aircrre abscuee esh sah ltdaveee .KC tTha sname hte epntiat ash a 50% cachen to be a rrreaic ecsni 'eshs ee.lfam daonRm tonc-naaiitXvi otns'ed aetmtr ehnw tnigkal btoau racirer tutsas uaesbec hotb lelesla hvea a nacehc ot teg sdsaep .no daRonm X tvoiitcianna is ynlo anortptmi ofr rigndmentei wtehhre she lwli eoedplv o.ytsmpms

I esgus ihst si hwy teh oqneuits swa nwrhot ?tou sneUsl 'Im simsnig snhimteo.g

claptain  ,vmN iths ntqueosi daeypl me. I elraezi taht E si the nlyo sopsileb he.cico othB A nda B uldow be 5%2 sc,nhcea ont 05% ncacseh, dan ouy annotc semuas wehhrte she is ro si otn a errcari wuiotth geientc yassnlai iecohcs( C and )D. hTat evalse nlyo E. +6  
beansbeansbeans  tiWa I eareg hwit ryuo rstif e,mmntco acn ouy inalepx athw emda ouy cngeha uoyr ndmi nad esnutraddn is?ht +  
yerpderp  heyT are ferigernr ot x nviitcnaoiat ni het atuhergd hwhci odluw enam ehs lcuod eb a carierr utb ew cnta ll.te +1  
cbreland  os her mom si a crrreia cubseae she dots'en ehva mpelocet mpyotssm ekli the rtheorb nad enul?c? I egssu I htguhot it was lal fo gnoinht hitw enhundec +  
cbreland  Dna,m erh mom si 0.5 neDcnehu tnpseati 'tnod ivel atth ng.l..o mnv mdub on my a,rpt ushodl vhae edma teh ocnonitnce +  
j44n  rhe mom atcn vaeh eht flul bownl eedassi saeucbe its an XLR iedssa.e I kithn ew dah ot onwarr isth wnod by ropessc fo ainmotiniel +  



 +1 
submitted by rohan225(1),
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Wyh is eht sewnar rcrirea usstta ok?uwnnn hWy 'cnat eth htemro be ouzhooyg?ms ecnseDuhn si X iednlk esiersecv.

dkhan123  ton suer tub hree is my lgi-eMo a:cl ilingbs of niettap ash idde ofrm u,cnneeDh ngrifincom mtreho MUST BE heietr eadtfcef or a Me.-aierhrotcr r sode TON eahv the nDunehec yn,topeeph btu sah dveelate ,nesymez nuisstgegg seh is a irer.arc heT hDnenuce ereavga ifel eapcxtnecy si .62 loAs the enosutqi is ttnwrie chus htat it ilesipm eth eomhrt esdo nto ahve the cnuDneeh yoneephtp nda eth edveealt mzeeyn lelve si eud to the rrraeci sautst fo Dnncuehe nad not na ldtnueear -yLss,nl litlse.a eth rduatgeh sah olanrm eemynz .eevlsl hTis udcol eb ued to tow ipbselso nercisaso, ehetri seh htrndiiee the nuhceeDn ngee and has dctitaeiavn t,i ro she vnree iieehrtdn het neeg to ngibe ithw. +5  



 +0 
submitted by netsirk2023(1),

This probably has to do with Barr Bodies (FA 2021, pg 61). To paraphrase FA, penetrance and severity of diseases in XX individuals can be impacted. DMD is included in their list.




 +0 
submitted by madamestep(12),

Her mom has high CK because her X inactivation is likely imbalanced to have more mutated X expressed. But note that a high CK does not equal full-blown Duchennes. It's similar to Hemophilia--women can have increased bleeding but not full hemophilia because of this phenomenon.

Her mother has some Duchenne phenotype, but we could just as easily see no phenotype in a carrier.

Further, if this woman is a carrier, her child has a 25% chance of developing DMD (50% chance of a boy, 50% of the bad X).

This woman likely has a 50% chance of being a carrier, she doesn't have DMD based on her CK and age and gender.




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