h p://dx.doi.o g/10.14336/AD.2024.0950
*Co espondence should be add essed o: D . Andone Sis iaga Be ondo, Uni e si y o he Basque Coun y, Psychology Facul y A da.
Tolosa, 70. 20018 Donos ia- San Sebas ián, Gipuzkoa, Spain. Email: [email p o ec ed].
Copy igh : © 2024 Ga mendia J. e al. This is an open-access a icle dis ibu ed unde he e ms o he C ea i e Commons A ibu ion
License, which pe mi s un es ic ed use, dis ibu ion, and ep oduc ion in any medium, p o ided he o iginal au ho and sou ce a e c edi ed.
ISSN: 2152-5250 2120
Re iew
Common Cha ac e is ics Be ween F ail y and Myo onic
Dys ophy Type 1: A Na a i e Re iew
Joana Ga mendia1,2, Ga azi Labay u1,2,3, Philipe de Sou o Ba e o4,5,6, I zia Ve ga a7,8,9, Adol o
López de Munain2,3,10, Andone Sis iaga1,2,3*
1Depa men o Clinical and Heal h Psychology and Resea ch Me hodology, Psychology Facul y, Uni e si y o
he Basque Coun y (UPV/EHU), Donos ia-San Sebas ián, Gipuzkoa, Spain. 2Cen o de In es igación Biomédica
en Red sob e En e medades Neu odegene a i as (CIBERNED), Ins i u e Ca los III, Mad id, Spain. 3Neu oscience
A ea, Biogipuzkoa Heal h Resea ch Ins i u e, Donos ia-San Sebas ián, Gipuzkoa, Spain. 4Ins i u e on Aging,
Toulouse Uni e si y Hospi al (CHU Toulouse), Toulouse, F ance. 5Ins i u Hospi alo-Uni e si ai e (IHU)
Heal hAge, Toulouse, F ance. 6CERPOP UMR 1295, Inse m, Uni e si é Paul Saba ie , Toulouse, F ance.
7Osakide za Heal h Ca e Di ec o a e, PC-IHO Resea ch Uni o Gipuzkoa, Donos ia-San Sebas ián, Gipuzkoa,
Spain. 8P ima y Ca e G oup, Biogipuzkoa Heal h Resea ch Ins i u e, Donos ia-San Sebas ián, Gipuzkoa, Spain.
9Red de In es igación en C onicidad, A ención P ima ia y P omoción de la Salud (RICAPPS), Spain. 10Neu ology
Depa men , Donos ia Uni e si y Hospi al, Donos ia-San Sebas ián, Gipuzkoa, Spain.
[Recei ed Augus 6, 2024; Re ised Augus 29, 2024; Accep ed Augus 29, 2024]
ABSTRACT: Myo onic dys ophy ype 1 (DM1) is an inhe i ed neu omuscula diso de o en conside ed a model o
accele a ed aging due o he ea ly appea ance o ce ain age- ela ed clinical mani es a ions and cellula and molecula
aging ma ke s. F ail y, a s a e o ulne abili y ela ed o aging, has been ecen ly s udied in neu ological condi ions
bu has ecei ed conside ably less a en ion in neu omuscula diso de s. This na a i e e iew aims o desc ibe 1) he
common cha ac e is ics be ween F ied’s ail y pheno ype c i e ia (muscula weakness, slow gai speed, weigh loss,
exhaus ion/ a igue, and low physical ac i i y) and DM1, and 2) he psychological and social ac o s po en ially
con ibu ing o ail y in DM1. This e iew ga he ed e idence sugges ing ha DM1 pa ien s mee ou o he i e
ail y pheno ype c i e ia. Addi ionally, longi udinal s udies epo he de e io a ion o hese c i e ia o e ime in
DM1. Pa ien s also exhibi psychological/cogni i e and social ac o s ha migh con ibu e o ail y. Moni o ing
ail y c i e ia in he DM1 popula ion could help o implemen imely p e en ions and in e en ions o educe he
disease bu den and se e i y o ail y symp oms.
Key wo ds: S eine ’s disease, F ied’s ail y pheno ype, accele a ed aging, disease- ela ed ail y, senescence,
psychosocial ac o s
1. In oduc ion
Myo onic dys ophy ype 1 (DM1), also known as
S eine ’s disease, is conside ed a a e condi ion;
howe e , i is he mos common o m o muscula
dys ophy in adul s. Clinical-based p e alence s udies
es ima e ha DM1 a ec s 5 o 20 pe 100,000 indi iduals
globally [1]. I is a gene ic diso de inhe i ed in an
au osomal dominan manne and cha ac e ized by
molecula ins abili y, which co ela es wi h ea lie disease
onse and g ea e se e i y [2, 3]. DM1 is classically
cha ac e ized by p og essi e muscula weakness, a ophy,
and myo onia, alongside o he sys emic mani es a ions
a ec ing a ious body sys ems, including he cen al
ne ous sys em (CNS), ca diac, endoc inal,
oph halmological, and gas oin es inal sys ems [1, 4].
DM1 pa ien s can be classi ied in o di e en pheno ypes
based on he age o disease onse [5]. Gene ally, he
Volume 16, Numbe 4; 2120-2131, Augus 2025
Ga mendia J., e al. F ail y and myo onic dys ophy ype 1
Aging and Disease • Volume 16, Numbe 4, Augus 2025 2121
ea lie he signs and symp oms appea , he mo e se e e
he disease. Some pheno ypes include in ellec ual
disabili y, leading o g ea e psychosocial challenges [6–
8].
DM1 has been p oposed as a model o p ema u e o
accele a ed aging, which, as de ined by Ma golick and
Fe ucci (2015) [9], is cha ac e ized by ana omical and
unc ional mani es a ions and unde lying mechanisms
ha mi o hose obse ed in no mal aging bu occu
p ema u ely o ea lie han ypically expec ed. In he DM1
popula ion, pa ien s p ema u ely p esen age- ela ed
clinical mani es a ions (e.g., ca a ac s, on al baldness,
muscle weakness, cogni i e impai men , me abolic
dys unc ion). Cellula indings in DM1 also esemble he
hallma ks o aging, including senescence induce s
( elome e sho ening, mi ochond ial dys unc ion, and
oxida i e s ess) and senescence bioma ke s (cell cycle
inhibi o s, senescence-associa ed sec e o y pheno ype,
ch oma in eo ganiza ion, and mic oRNA), along wi h
molecula ea u es simila o hose o segmen al p oge oid
diso de s [10–14].
In an aging popula ion, ail y eme ges as a c ucial
concep , de ined as a s a e o ulne abili y be ween
obus ness and disabili y associa ed wi h age. I is
conside ed a po en ially e e sible condi ion [15]
esul ing om he cumula i e decline o se e al
physiological sys ems and ulne abili y o in e nal and
ex e nal s esso s [16]. The ail y pheno ype was i s
cha ac e ized by F ied [17] and includes a leas h ee
c i e ia: muscle weakness, slow walking speed,
unin en ional weigh loss, exhaus ion o a igue, and low
physical ac i i y. In ecen yea s, esea che s ha e
acknowledged he con ibu ion o o he psychological and
social ac o s o ail y, leading o a mo e comp ehensi e
and mul idimensional app oach o unde s anding he
cons uc [18–21].
T adi ionally s udied in ge ia ics, he concep o
ail y has ex ended in o o he medical disciplines as a
measu e o an indi idual’s isk p o ile [22]. F ied and
colleagues [17] p oposed wo dis inc pa hs leading o
ail y: age- ela ed and disease- ela ed ail y, wi h he
la e a ising om ch onic o acu e medical e en s.
Angioni and colleagues [23] suppo ed his hypo hesis,
sugges ing clinical di e ences and ajec o ies be ween
he wo pa hs. Neu ological condi ions, such as
Alzheime ’s disease, Pa kinson’s disease, and mul iple
scle osis, ha e eme ged as signi ican con ibu o s o
disease- ela ed ail y, wi h a high p e alence o ail y
obse ed in hese condi ions [24, 25]. F ail y i sel se es
as a isk ac o o disease p og ession and inc eased
ulne abili y o ad e se medical e en s [26].
Addi ionally, ail y no only inc eases he isk o
de eloping neu ological diso de s [27] bu also in luences
hei clinical p esen a ion and pheno ypical exp ession,
being associa ed wi h ad e se heal h ou comes [24, 28]
alongside ce ain disease-speci ic ea u es [29, 30].
Howe e , he e is e y limi ed li e a u e a ailable on
ail y wi hin neu omuscula diso de s [31, 32].
Due o he po en ial accele a ed aging p ocess in
DM1 and he possible inc eased isk o ail y, his
na a i e e iew aims o analyze he common
cha ac e is ics be ween F ied’s ail y pheno ype c i e ia
and DM1. Addi ionally, conside ing he CNS al e a ion
and psychosocial ac o s a ec ing DM1 pa ien s, he
second aim o his e iew is o add ess he psychological
and social ac o s po en ially con ibu ing o ail y in
DM1.
2. Me hod
A icles we e sea ched in MEDLINE (PubMed), Scopus,
and Web o Science da abases un il Augus 2024. To align
he e iew wi h he s a ed objec i es, ail y was de ined
using F ied’s ail y pheno ype c i e ia. To ensu e he
inclusion o he mos ecen s udies since he
es ablishmen o F ied’s c i e ia in 2001, his e iew
conside ed wo ks published om 2001 o he p esen
(Augus 2024). The sea ch s a egy included he e ms
“DM1” o “myo onic dys ophy,” combined wi h
keywo ds ela ed o F ied’s ail y pheno ype c i e ia
(muscle weakness, gai speed, weigh loss,
exhaus ion/ a igue, and physical ac i i y) o he i s aim,
and psychological and social con ibu o s o ail y o he
second aim. To u he expand he ange o s udies, a
o wa d and backwa d snowballing app oach was
employed [33].
Inclusion c i e ia o his na a i e e iew we e limi ed
o pape s published in English o Spanish. Only human
s udies in ol ing adul popula ions, bo h c oss-sec ional
and longi udinal, we e included. In e en ional s udies
we e conside ed only in excep ional cases. Exclusion
c i e ia included case epo s, con e ence pape s, s udies
on myo onic dys ophy ype 2, and any esea ch s udies
beyond he scope o his e iew.
The included a icles we e sc eened by eading he
abs ac s, and ele an a icles we e comp ehensi ely
e iewed.
3. Resul s and discussion
This na a i e e iew is di ided in o wo sec ions: he i s
sec ion ocuses on he ail y pheno ype c i e ia, while he
second sec ion add esses he psychological and social
ac o s po en ially con ibu ing o ail y. As o he da e o
his e iew, he e a e no s udies on ail y in he DM1
popula ion. In his e iew, each componen o ac o o
ail y is b ie ly desc ibed wi hin he con ex o aging and
ge ia ics. Subsequen ly, a comp ehensi e examina ion is
Ga mendia J., e al. F ail y and myo onic dys ophy ype 1
Aging and Disease • Volume 16, Numbe 4, Augus 2025 2122
conduc ed wi hin he DM1 popula ion, discussing he
a ailable li e a u e.
3.1. F ail y pheno ype and DM1
The s udies add essing he common cha ac e is ics
be ween F ied’s ail y pheno ype c i e ia and DM1 a e
summa ized in Table 1 and a e discussed below. O e all,
he indings and conclusions om he e iewed a icles
we e consis en and aligned, showing no disc epancies,
which s eng hens he p esen ed e idence.
Table 1. Summa y o he common cha ac e is ics be ween ail y pheno ype c i e ia and DM1.
F ied’s ail y
pheno ype c i e ia
DM1
T ans e sal s udies
in DM1
S udies
Longi udinal s udies
in DM1
S udies
Muscle weakness: g ip
s eng h in he lowes
20% a baseline,
adjus ed o gende and
body mass index.
✔
-Myo onia
-Low g ip s eng h
(Hog el e al., 2017;
LoRusso e al., 2018;
Moxley e al., 2007;
Ozimski e al., 2021;
Sugimo o e al., 2022;
Tho n on, 2014)
-P og essi e muscle
a ophy and weakness
-Loss o muscle
s eng h
(Gagnon e al., 2018;
Hamma én e al.,
2015; Raymond e al.,
2017; Roussel e al.,
2021; Sedehizadeh
e al., 2017)
Slow gai speed: The
slowes 20% o he
popula ion, based on
ime o walk 15 ee ,
adjus ing o gende and
s anding heigh .
✔
-Gai dis u bances:
al e ed gai speed, s ep
leng h and equency,
and cadence
(Bachasson e al., 2016;
Galli e al., 2012; Kim
e al., 2020; Pucillo
e al., 2018; Wiles,
2005)
-De e io a ion o gai
pa ame e s
-Inc ease in walking
di icul ies
(Hamma én e al.,
2015)
Weigh loss: weigh
loss, unin en ional, o
≥10 pounds in p io yea
-
-No speci ic s udies
-Two pheno ypes:
a ophic and
o e weigh (obesi y)
-Inc eased a -mass
( isce al adiposi y)
-Dec eased a - ee
mass
-Possible con ibu o :
dysphagia (p e alence
55%)
(Gu ié ez e al., 2020;
Joos en e al., 2023;
Kikuchi e al., 2022;
Pe ic, Bozo ic, e al.,
2019; P una e al.,
2011; Sedehizadeh
e al., 2017)
-No speci ic s udies
-Inc ease on o al a -
mass and a dec ease in
o al a - ee mass
-Dec ease in bo h
unk a -mass and a -
ee mass (possible
weigh loss)
(Kikuchi e al., 2022;
Sedehizadeh e al.,
2017)
Exhaus ion/ a igue: as
indica ed by sel - epo
o exhaus ion.
✔
-High p e alence o
a igue (50-90%)
(E okhina e al., 2024;
Hea wole e al., 2012;
Kalkman, 2005;
Labe ge e al., 2020;
Land eld e al., 2019;
Men ing e al., 2018;
Pe ic, Bjelica, e al.,
2019),
-Inc ease in a igue
le els and/o
p opo ion o pa ien s
wi h a igue o e ime
(Kalkman, 2005;
Labe ge e al., 2020;
Pe ic, Bjelica, e al.,
2019)
Low physical ac i i y:
A weigh ed sco e o
kilocalo ies expended
pe week, based on each
pa icipan 's epo .
✔
-Less physically ac i e
han heal hy con ols
-Need assis ance o
ha e di icul ies
pe o ming physical
ac i i y
(Gagnon e al., 2007,
2013; Ga mendia e al.,
2023; Kie kegaa d
e al., 2011; Knak e al.,
2020; Land eld e al.,
2020; Van Heug en
e al., 2018; Wiles,
2005)
-Dec ease in physical
ac i i y o e ime
(Raymond e al.,
2019)
No e. DM1 = Myo onic dys ophy ype 1
3.1.1. Muscle weakness
Muscle weakness, a key cha ac e is ic o he ail y
pheno ype, is ope a ionalized as low g ip s eng h.
Resea ch sugges s ha i peaks in ea ly adul hood,
emains s able h ough midli e, and subsequen ly declines
wi h age, ypically s a ing a he age o 50 [34]. In olde
adul s, g ip s eng h is a p edic o o o e all s eng h and
unc ion [35] and is a signi ican indica o o cu en
heal h s a us and physical, unc ional, and psychological
pe o mance [35–38]. Addi ionally, i is conside ed a
media o in he ela ionship be ween muscle mass and
ail y [39] and a p edic o o mo bidi y and mo ali y [40,
41]. Al hough g ip s eng h is a key componen o muscle
weakness, o he aspec s, such as lowe limb s eng h, a e
also wo h conside ing in he con ex o ail y.
DM1, a p og essi e neu omuscula condi ion, is
ypically cha ac e ized by p og essi e muscle weakness,
a ophy, and handg ip myo onia, which e e s o impai ed
muscle elaxa ion a e olun a y con ac ion [42],
Ga mendia J., e al. F ail y and myo onic dys ophy ype 1
Aging and Disease • Volume 16, Numbe 4, Augus 2025 2123
leading o weak g ip s eng h. The muscula in ol emen
in DM1 ollows a symme ic and dis al pa e n, g adually
p og essing o p oximal muscles. I commonly causes
dis al weakness in he uppe ( o ea ms, hands) and lowe
( inge lexo s, ankle plan a lexo s, ankle do si lexo s)
limbs, wi h he ace, jaw, and neck muscles being he mos
se e ely a ec ed muscle g oups [4, 43].
Myo onia and dis al muscula weakness a e among
he i s signs o DM1 [1] and a e equen ly obse ed
symp oms [44], ypically e iden du ing maximal g ip
con ac ions. Rega ding he na u al cou se o myo onia in
DM1, ce ain s udies sugges ha he myo onia sign ends
o dec ease wi h age [11], likely due o he agg a a ion o
muscula weakness, esul ing in insu icien s eng h o
mani es con ac ion and elaxa ion signs.
P og essi e skele al muscle a ophy and weakness
can educe muscle s eng h and endu ance [42]. In line
wi h his obse a ion, DM1 pa ien s exhibi weak g ip
s eng h and di e en g ip o ce elaxa ion compa ed o
heal hy con ols (HC) [45, 46]. Myo onia and g ip
s eng h a e associa ed wi h he molecula de ec o he
disease (CTG expansion size) [44–47] and se e as
ma ke s o disease se e i y. Addi ionally, muscula
weakness is linked o an inc eased isk o alls and
ac u es in DM1 [48, 49], wi h he incidence o hese
e en s being high and age- ela ed in his popula ion [50].
Longi udinal s udies ha e shown a signi ican loss o
muscle s eng h in a ious muscle g oups [51–53] and a
signi ican decline in g ip s eng h [54, 55].
3.1.2. Slow gai speed
Ano he cha ac e is ic o he ail y pheno ype is slow gai
speed, which is a signi ican p edic o o he isk o
inju ious alls, which can po en ially lead o medical
complica ions, such as ac u es. O he gai pa ame e s a e
also ela ed o ad e se clinical, cogni i e, and physical
heal h ou comes [56].
The p og essi e de e io a ion o muscles in DM1
pa ien s can p o oundly a ec gai and balance, leading o
commonly obse ed dis u bances in hese a eas. Va ious
s udies in DM1 ha e epo ed al e ed gai pa ame e s,
including al e ed gai speed, s ep leng h and equency,
and cadence [57–60]. These gai de iciencies a e closely
associa ed wi h an inc eased isk o alls and ac u es in
DM1 pa ien s (Bachasson e al., 2016; Galli e al., 2012;
Kim e al., 2020; Pucillo e al., 2018), wi h he p e alence
o alls anging om 30-70% and all- ela ed ac u es
om 11-17% [49, 60, 63]. Addi ionally, indi iduals wi h
DM1 expe ience a wo old isk o alling compa ed o
heal hy con ols aged o e 65.
Fu he mo e, a 5-yea ollow-up s udy no ed
signi ican de e io a ion o gai pa ame e s and muscle
s eng h, balance, and pe o mance-based measu es,
esul ing in a signi ican inc ease in epo ed walking
di icul ies [52].
3.1.3. Weigh loss
Unin en ional weigh loss o sh inking is ano he common
ea u e con ibu ing o he ail y pheno ype. In he
con ex o aging, weigh loss o en occu s due o educed
ood in ake [64]. This weigh loss can be a ibu ed o
a ious age- ela ed changes, such as loss o appe i e,
gas oin es inal al e a ions, me abolic changes, al e ed
as e and smell, and psychological and social ac o s [65].
Addi ionally, illness and he e ec s o medica ions can
u he con ibu e o weigh loss. This weigh loss can lead
o nu i ional de iciencies and is o en accompanied by
sa copenia, de ined as he loss o skele al muscle mass
and unc ion due o aging [66].
In he case o DM1, wo dis inc pheno ypes can be
ound in pa ien s: he a ophic pheno ype and he
o e weigh o obesi y pheno ype, wi h he la e being he
mos p edominan . Indeed, some s udies ha e shown ha
o e weigh and obesi y a e p e alen in DM1, a ec ing
50% and 25-50% o pa ien s, espec i ely [67, 68].
Fu he mo e, s udies on body composi ion in DM1 ha e
epo ed al e a ions such as inc eased a mass (FM) and
isce al obesi y and dec eased a - ee mass (FFM), e en
in pa ien s wi h a no mal body mass index [55, 67, 69, 70].
These changes could be due o physical inac i i y, poo
die a y habi s, and me abolic al e a ions such as insulin
esis ance [71]. These indings sugges he po en ial
p esence o bo h sa copenic obesi y (co-exis ence o
sa copenia and obesi y) and os eosa copenia (co-
exis ence o sa copenia and os eopo osis) in DM1 pa ien s
[72, 73].
On he o he hand, conce ning he a ophic
pheno ype, he e is a lack o li e a u e speci ically
add essing weigh loss in DM1 pa ien s. Howe e , ce ain
clinical ea u es o he condi ion may con ibu e o
unin en ional weigh loss. One signi ican ea u e is he
high p e alence o gas oin es inal dys unc ion in DM1
pa ien s [74, 75], which includes symp oms such as
dysphagia (di icul y in swallowing), abdominal pain,
cons ipa ion, and dia hea. Dysphagia, p esen in
app oxima ely 55% o DM1 pa ien s [76], is no only a
signi ican isk ac o o aspi a ion pneumonia bu can
also lead o malnu i ion and unin en ional weigh loss
[77], u he exace ba ing nu i ional de iciencies and
muscle was ing associa ed wi h physical ail y.
While no longi udinal s udies ha e add essed weigh
loss speci ically in DM1, ce ain s udies on body
composi ion ha e yielded inconsis en esul s. One s udy
epo ed a signi ican inc ease in o al FM and a dec ease
in o al FFM [55]. In con as , ano he s udy wi h a simila
ollow-up pe iod showed a signi ican educ ion in bo h
Ga mendia J., e al. F ail y and myo onic dys ophy ype 1
Aging and Disease • Volume 16, Numbe 4, Augus 2025 2124
unk FM and FFM [69], sugges ing he possibili y o
weigh loss.
3.1.4. Exhaus ion/ a igue
Exhaus ion o a igue is conside ed a cen al componen
o ail y and is cha ac e ized by poo endu ance and
ene gy. The Diagnos ic and S a is ical Manual o Men al
Diso de s, 5 h Edi ion, [78] de ines a igue as a s a e
associa ed wi h educed physical and/o men al esou ces,
anging om gene al le ha gy o a speci ic bu ning
sensa ion in he muscles induced by wo k. Al hough
measu es o a igue in ail y a y, mos e e o a igue as
a gene al eeling o i edness o diminished ene gy and
endu ance a he han muscle a igabili y [79, 80].
Fa igue is highly p e alen in DM1, a ec ing 50-90%
o indi iduals wi h he condi ion [81–86]. This p e alence
is highe han in o he neu omuscula diso de s [87].
Fa igue in DM1 is no necessa ily ela ed o muscula
impai men , as pa ien s wi h mild muscle symp oms can
expe ience se e e a igue.
In DM1 pa ien s, a igue has been ound o co ela e wi h
disease se e i y ma ke s, such as muscula impai men
and molecula de ec (CTG), as well as psychological
ea u es and quali y o li e [82, 85, 86, 88]. Mo eo e ,
a igue is commonly associa ed wi h ano he CNS- ela ed
symp om, day ime excessi e sleepiness [82], a common
ea u e wi hin his popula ion. No ably, in olde adul s,
day ime sleepiness has been associa ed wi h sa copenia,
an inc eased isk o alls, age- ela ed como bidi ies, and
mo ali y [89, 90].
Al hough inconclusi e, longi udinal s udies sugges
ha a igue le els and he p opo ion o pa ien s wi h
a igue end o inc ease o e ime and a e also associa ed
wi h age [82, 85, 87].
3.1.5. Low physical ac i i y
F ail y pheno ype is also cha ac e ized by low le els o
physical ac i i y, which is conside ed one o he key
de e minan s o ail y [91]. Physical ac i i y ends o
dec ease wi h aging [92], and physical inac i i y and
seden a y beha io a e p e alen among olde adul s [93].
Lack o physical ac i i y is conside ed a isk ac o o
inciden ail y [91, 94, 95] and is linked o educed
muscle mass and s eng h [96], along wi h inc eased isk
o disease, disabili y, and mo ali y [97].
S udies ha e epo ed ha DM1 pa ien s encoun e
signi ican physical ac i i y o i ness challenges, o en
equi ing assis ance [98–102]. Resea ch indica es ha
DM1 pa ien s a e less physically ac i e compa ed o
heal hy adul s o he e e ence popula ion, as measu ed by
objec i e and subjec i e echniques [60, 103], wi h hal o
he s udied pa ien s mee ing he minimum equi emen s
o WHO- ecommended physical ac i i y [104].
Seden a y DM1 pa ien s end o p esen wo se unc ional
pe o mance, sugges ing ha physical ac i i y could ha e
a p o ec i e e ec on he loss o unc ional abili y [53].
In he s udy by Knak and colleagues [104], he low
physical ac i i y le els obse ed in DM1 pa ien s a e
a ibu ed o se e al ac o s, including he high p e alence
o muscle weakness, a igue, apa hy, and cogni i e
impai men , along wi h o he challenges such as inancial
di icul ies o limi ed access o acili ies. Howe e , hei
s udy iden i ied educa ion as he only signi ican p edic o
o physical ac i i y among DM1 pa ien s [104].
In his ega d, a longi udinal s udy epo ed a
signi ican dec ease in physical ac i i y o e a nine-yea
pe iod among DM1 pa ien s, wi h le els alling below
hose o heal hy adul s aged 55-64 a baseline [105]. The
au ho s sugges ed ha hese changes e lec no only
aging e ec s bu also disease-speci ic ac o s inhe en o
DM1.
An in e en ional s udy in ol ing cogni i e
beha io al he apy combined wi h op ional g aded
exe cise in DM1 pa ien s signi ican ly imp o ed physical
ac i i y le els and exe cise capaci y and lowe ed a igue
compa ed o s anda d ca e alone [106]. Ano he s udy
ound ha an ac i i y-s imula ing beha io al in e en ion
imp o ed he capaci y o ac i i y and pa icipa ion in he
in e en ion g oup, while he s anda d ca e g oup saw a
decline. Howe e , physical ac i i y le els emained s able
in bo h g oups [107].
Regula physical ac i i y is essen ial o main aining
muscle s eng h [108]. The e o e, low physical ac i i y in
DM1 could con ibu e o muscle disuse, esul ing in
dec eased s eng h and po en ially leading o u he
muscle a ophy. This si ua ion exace ba es he isk o poo
heal h ou comes, disabili y, and ail y.
3.2. Psychosocial ac o s con ibu ing o ail y in DM1
3.2.1. Psychological ac o s
While he concep o psychological ail y lacks a
uni e sally accep ed de ini ion, a ecen scoping e iew
[109] iden i ied common psychological componen s
con ibu ing o ail y. These componen s include mood
al e a ions (dep ession, sadness), cogni i e al e a ion
(cogni i e de ici s, demen ia), o he men al heal h
conce ns (anxie y, poo coping, and loneliness), and
a igue- ela ed p oblems (including a igue, exhaus ion,
and loss o ene gy).
Va ious s udies ha e epo ed a bidi ec ional
ela ionship be ween psychological/cogni i e unc ion
and physical ail y [110–113]. Bo h psychological
symp oms and cogni i e impai men o educed cogni i e
ese e can po en ially inc ease ulne abili y o s esso s
Ga mendia J., e al. F ail y and myo onic dys ophy ype 1
Aging and Disease • Volume 16, Numbe 4, Augus 2025 2125
and he isk o ad e se heal h ou comes, such as
neu odegene a i e p ocesses [114–116].
In DM1, alongside muscula impai men , pa ien s
o en p esen cen al ne ous sys em in ol emen ,
including b ain al e a ions, cogni i e impai men , and
symp oms such as apa hy, a igue, and day ime sleepiness
[117]. Conce ning cogni ion, hese pa ien s end o ha e a
sligh ly diminished IQ and cogni i e de ici s ac oss
a ious domains [118, 119], including social cogni ion
[120], and longi udinal s udies ha e indica ed a slow
p og essi e decline in cogni i e unc ion [121–128],
sugges ing a neu odegene a i e p ocess. Howe e , i
emains challenging o de e mine whe he hese cogni i e
de ici s in DM1 a e p ima ily associa ed wi h disease-
ela ed al e a ions in ea ly-li e s ages (e.g.,
neu ode elopmen al) o a e linked o an addi ional
neu odegene a i e p ocess de i ed om aging.
Rega ding he psychopa hological p o ile o DM1
pa ien s, hese indi iduals o en ace ch onic and
p og essi e condi ions ha e oke challenging emo ions
such as us a ion, anxie y, and sadness [8]. Va ious
s udies, including a me a-analysis [129–131], ha e
e ealed mild psychopa hological p oblems in DM1
pa ien s, wi h highe a es o mood diso de s (19%
dep ession, 17% anxie y, and 55% apa hy), soma ic
diso de s, and pe sonali y diso de s compa ed o he
heal hy popula ion. Apa hy eme ges as he mos p e alen
psychological symp om in DM1, and in e es ingly, ecen
s udies in he gene al olde adul popula ion ha e linked
apa hy o inciden ail y and disabili y, wi h apa he ic
indi iduals p esen ing a highe isk o being classi ied as
p e- ail o ail [132–134].
3.2.2. Social ac o s
Social ac o s a e also signi ican con ibu o s o ail y.
F ail y is associa ed wi h social ulne abili y,
cha ac e ized by a lack o essen ial social esou ces
needed o ul ill basic social equi emen s. This
ulne abili y includes inc eased loneliness and social
isola ion, inadequa e social suppo , educed social
pa icipa ion, and declining sel -managemen abili ies
[135, 136]. Social ac o s cons i u e a c ucial componen
associa ed wi h an ele a ed isk o ad e se medical e en s
and mo ali y.
S udies consis en ly highligh challenges in daily
ac i i ies and dis up ed social pa icipa ion in DM1
pa ien s, including di icul ies in ec ea ional ac i i ies,
social in e ac ions, and employmen [98–102]. Follow-up
s udies indica e a p og essi e decline in bo h daily and
social ac i i ies in DM1 pa ien s [105].
O he s udies in DM1 also iden i ied unme needs in
social and pe sonal ca e despi e adequa e medical
a en ion [137], along wi h indica o s o socioeconomic
dep i a ion, such as poo academic achie emen , high
unemploymen a es, low amily income, and a g ea e
need o social assis ance compa ed o he heal hy
popula ion [138]. De e minan s o his social dys unc ion
in DM1 include disease- ela ed ac o s (disease du a ion,
impai ed social cogni ion, apa hy, a igue, and muscula
impai men ) and en i onmen al ac o s (limi ed social
ne wo k, s igma, low educa ional a ainmen , and
unemploymen ), all con ibu ing o di icul ies in he
social domain [99, 105, 139–141].
4. Conclusions and u u e di ec ions
This na a i e e iew is he i s s udy o explo e he
common clinical cha ac e is ics be ween ail y and DM1,
ocusing on he ail y pheno ype c i e ia as cha ac e ized
by F ied [17], along wi h he psychosocial ac o s
po en ially con ibu ing o ail y.
The main inding o his e iew is he subs an ial
o e lap o he F ied’s ail y pheno ype c i e ia wi h he
symp oma ology cha ac e is ic o DM1. E idence has
been ga he ed o sugges ha DM1 pa ien s mee a leas
ou ail y pheno ype c i e ia. Speci ically, he li e a u e
con i ms ha DM1 pa ien s commonly expe ience
muscula weakness [45, 46], slow gai speed [57–60],
a igue/exhaus ion [81–85], and educed physical ac i i y
[60, 103, 104]. Howe e , he e is no conclusi e e idence
suppo ing unin en ional weigh loss in DM1. Al hough
he e is a endency owa ds o e weigh and obesi y in
hese pa ien s [67, 68], his does no ule ou he
possibili y o he coexis ence o o e weigh /obesi y and
weigh loss. No ably, DM1 pa ien s p esen bo h low
muscle mass and high adiposi y [55, 67, 69], esembling
cha ac e is ics obse ed in sa copenic obesi y [72].
In addi ion, longi udinal s udies in DM1 ha e
epo ed a de e io a ion o he ail y pheno ype c i e ia
o e ime. Speci ically, muscle weakness ends o wo sen
p og essi ely [42, 51, 53, 142], and gai pa ame e s,
including speed, signi ican ly decline [52]. Addi ionally,
a igue le els ha e been obse ed o inc ease wi h age
[82, 85, 87], and physical ac i i y dec eases signi ican ly
o e ime [105] in DM1.
Beyond he physical domain, psychosocial ac o s,
including psychological, cogni i e, and social ac o s,
could also in luence he isk p o ile o he DM1
popula ion. DM1 pa ien s o en show sligh cogni i e
de ici s [118] and expe ience a g adual decline in
cogni i e unc ion o e ime [121–125].
Psychopa hological symp oms, pa icula ly apa hy, a e
p e alen among hese pa ien s [129, 130]. Addi ionally,
DM1 pa ien s encoun e challenges in social unc ioning,
including di icul ies in daily ac i i ies, educed social
pa icipa ion, and lowe le els o educa ion and
Ga mendia J., e al. F ail y and myo onic dys ophy ype 1
Aging and Disease • Volume 16, Numbe 4, Augus 2025 2126
employmen [98–102], which end o wo sen
p og essi ely o e ime [105].
The p ima y challenge in s udying ail y in DM1 lies
in he po en ial o e lap be ween ail y and DM1
symp oma ology. Gi en he complex, mul isys emic
na u e o he disease, i is di icul o conclusi ely
a ibu e ail y o speci ic disease cha ac e is ics, he
po en ial accele a ed aging p ocesses, o an in e ac ion
be ween bo h. As highligh ed in his e iew, he e is a
no able absence o s udies speci ically add essing ail y
in DM1. Consequen ly, one o he main limi a ions is ha
ail y could only be examined by sepa a ely analyzing he
componen s o he ail y pheno ype in DM1.
Addi ionally, he e is a po en ial bias since only a icles
mee ing he inclusion c i e ia and deemed ele an o he
objec i es o his na a i e e iew we e included, which
may ha e esul ed in he omission o ce ain pe inen
s udies. I is also impo an o no e ha he e iewed
s udies we e conduc ed on adul DM1 pa ien s wi h
a ying pheno ypes (based on age o onse ), which should
be conside ed when gene alizing he conclusions. Finally,
beyond he limi a ions o his e iew, i is c ucial o
ecognize ha he e iewed s udies migh ha e hei own
biases and limi a ions, such as small sample sizes, which
a e inhe en cons ain s in he s udy o a a e disease like
DM1.
F ail y is cha ac e ized by i s po en ial e e sibili y in
heal hy olde adul s [15], highligh ing he impo ance o
i s iden i ica ion and managemen . Howe e , i emains o
be explo ed whe he ail y symp oms could be e e sed
in clinical popula ions (o in he case o disease- ela ed
ail y), pa icula ly in DM1 pa ien s.
S udying ail y in DM1 could p o ide aluable
insigh s o iden i ying ulne able indi iduals a isk o
ad e se heal h ou comes and mo ali y. Mo eo e ,
moni o ing and managing ail y in his clinical
popula ion could ha e impo an implica ions o he
clinical ca e o hese pa ien s. Beyond he usual clinical
app oach o DM1 pa ien s, iden i ying and s a i ying
hem based on hei ail y s a us could acili a e he
implemen a ion o a ge ed p e en ion and in e en ion
p og ams o he mos ulne able indi iduals. These
ini ia i es could aid in p e en ing, decele a ing, and e en
e e sing ail y, he eby po en ially delaying he onse o
disabili y in his popula ion. Such e o s could be key in
imp o ing pa ien s' heal h- ela ed quali y o li e since a
ecen s udy epo ed ha disease- ela ed ail y migh
p og ess o disabili y mo e apidly han age- ela ed ail y
[23].
Unde s anding how ail y impac s p ognosis and
mo ali y in DM1 is essen ial. The e o e, u u e esea ch
should ocus on de e mining he p e alence o ail y in
he DM1 popula ion and i s ela ionship wi h disease-
speci ic ea u es (molecula de ec , muscula impai men ,
and mul isys emic in ol emen ), and ad e se heal h
ou comes. S udies add essing common biological
mechanisms be ween DM1, and ail y would also be o
pa icula in e es . Addi ionally, longi udinal s udies a e
needed o ack he na u al p og ession o DM1 and ail y
componen s o e ime and add ess he e ec s o
in e en ions on ail y. Such esea ch would p o ide
aluable insigh s in o he impac o ail y on clinical
mani es a ions.
In summa y, his na a i e e iew has iden i ied
physical, psychological, and social ea u es in he DM1
popula ion ha align wi h o a e associa ed wi h ail y
and suppo he idea o an ongoing accele a ed aging
p ocess. These indings sugges a po en ially highe
p e alence o ail y in DM1, which may con ibu e o an
inc eased isk o ad e se heal h ou comes and mo ali y.
Insigh s gained om s udying ail y in DM1 pa ien s
could in o m he de elopmen o e ec i e in e en ions
o mi iga e disease p og ession and p e en ad e se
ou comes and disabili y in ulne able indi iduals.
Acknowledgemen s
This wo k was suppo ed by Cen o de In es igación
Biomédica en Red de En e medades Neu odegene a i as
(Re : 609), om he Ins i u e o Heal h Ca los III co-
ounded by he Eu opean Union [PI22/01118 o Andone
Sis iaga]; Basque Go e nmen [2022111031 o Andone
Sis iaga; IT1732-22 o Joana Ga mendia, Ga azi Labay u,
Andone Sis iaga and Adol o López de Munain];
Uni e si y o he Basque Coun y [PIF 20/238 o Joana
Ga mendia].This wo k was pe o med in he con ex o
he IHU Heal hAge, which was bene i ed om unding by
he Agence Na ionale de la Reche che unde he F ance
2030 p og am [ANR-23-IAHU-0011 o Philipe de Sou o
Ba e o].
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