Neuromuscular Disorders,
Год журнала:
2023,
Номер
34, С. 19 - 26
Опубликована: Ноя. 10, 2023
McArdle
disease
is
an
autosomal
recessive
inherited
caused
by
pathogenic
variants
in
the
PYGM
gene,
resulting
virtual
absence
of
myophosphorylase
enzyme
skeletal
muscle.
Patients
experience
physical
activity
intolerance,
muscle
pain,
and
fatigue.
This
study
aimed
to
investigate
other
fatigue
domains
with
Multidimensional
Fatigue
Inventory
(MFI-20)
along
investigation
potential
contributing
factors,
including
relevant
lifestyle-related
factors.
We
conducted
a
survey
international
cohort
patients
disease.
The
included
questions
on
demographics
disease-related
symptoms,
questionnaires:
MFI-20,
Insomnia
Severity
Index
(ISI),
International
Physical
Activity
Questionnaire
Short-Form
(IPAQ-SF).
One
hundred
seventy-four
responses
were
data
analyses.
found
relatively
high
scores
all
five
(general
(12.9
±
2.2),
mental
(10.1
4.1),
(13.7
reduced
(12.1
motivation
(10.4
3.4)).
associated
symptom
severity
(p
<
0.005),
lower
levels
(assessed
IPAQ-SF)
0.05),
poor
sleep
ISI)
0.05).
These
findings
call
for
clinical
focus
future
research
into
fatigue,
health
Journal of Neuromuscular Diseases,
Год журнала:
2021,
Номер
9(1), С. 137 - 146
Опубликована: Окт. 9, 2021
Despite
improvements
in
the
medical
management
of
myasthenia
gravis
(MG)
recent
years,
patients
continue
to
report
poor
health
and
wellbeing
outcomes
such
as
high
levels
fatigue,
reduced
quality
life
(QoL),
walking
limitation
lowered
balance
confidence.
Physical
activity
has
been
shown
be
associated
with
these
other
populations,
however,
there
limited
research
adults
MG.To
describe
physical
sedentary
behaviour
MG
explore
associations
between
behaviours
QoL,
confidence
limitation.A
self-report
online
survey
was
used
assess
activity,
behaviour,
MG.
Multiple
linear
regression
examine
descriptive
statistics
were
analyse
participant
characteristics,
behaviour.Eighty-five
included
(mean
age
48±16
years).
Over
half
participants
(n
=
53,
62.4%)
reported
sufficient
meet
public
guidelines.
Participants
an
average
9
h/day
time
9.0±3.5).
fatigue
(R2
0.196),
QoL
0.330),
0.305)
0.304)
significantly
(p
<
0.05)
positively
correlated,
no
found
for
behaviour.
When
patterns
combined,
lower
0.213),
higher
0.364),
0.341)
0.279)
observed
who
had
greater
(>
150
mins/week)
(<
10
h/day).Higher
is
favorable
Further
required
ascertain
whether
may
appropriate
target
intervention
improve
this
population.
Neuromuscular Disorders,
Год журнала:
2024,
Номер
41, С. 24 - 28
Опубликована: Май 29, 2024
Primary
hypokalemic
periodic
paralysis
(HypoPP)
is
a
skeletal
muscle
channelopathy
most
commonly
caused
by
pathogenic
variants
in
the
calcium
channel
gene,
CACNA1S.
HypoPP
can
present
with
attacks
of
and/or
permanent
weakness.
Previous
studies
have
shown
that
patients
impaired
quality
life
(QoL).
In
this
cross-sectional
study,
we
aimed
to
describe
QoL
CACNA1S
using
The
Individualized
Neuromuscular
Quality
Life
(INQoL)
questionnaire,
validated
tool
measure
neuromuscular
diseases
(higher
score,
worse
QoL).
We
showed
weakness
and
fatigue
were
symptoms
greatest
impact
on
participants'
lives
"activities",
domain
INQoL,
was
affected
HypoPP.
Furthermore,
total
INQoL
score
increased
age.
Low
primarily
driven
progressive
not
paralysis,
although
half
participants
reported
challenged
their
daily
life.
results
suggest
special
attention
should
be
given
RRNMF Neuromuscular Journal,
Год журнала:
2021,
Номер
2(5)
Опубликована: Дек. 20, 2021
Fatigue
is
a
common
symptom
in
myasthenia
gravis
(MG),
but
both
objective
and
subjective
measures
of
fatigue
are
poorly
studied
the
disease.
We
conducted
pilot
study
static
testing
(SFT)
group
MG
patients,
using
an
isometric
quantified
muscle
analysis
computer
system.
Results
from
sustained
contraction
5
groups
77
patients
were
correlated
to
Quantitative
Score
(QMG)
Activities
Daily
Living
Profile
(MG-ADL),
two
commonly
used
outcome
measures.
Pearson
correlation
coefficients
for
SFT
highest
(0.33)
hand
grip
QMG
MG-ADL.
Correlations
quite
poor
proximal
ankle
dorsiflexion.
More
work
needed
develop
MG.
Journal of Clinical Neuroscience,
Год журнала:
2023,
Номер
114, С. 9 - 16
Опубликована: Июнь 3, 2023
Abstract
This
study
aimed
to
explore
how
people
with
myasthenia
gravis
experience
impairments
in
vision,
dizziness,
hearing,
and
fatigue,
these
relate
balance
confidence,
community
participation,
health-related
quality
of
life.
Additionally,
this
investigated
the
utilisation
perception
allied
health
role
managing
Australian
context.
Visual
hearing
impairments,
along
were
found
be
correlated
life
participation
varying
degrees,
while
visual
impairment
dizziness
confidence.
Perception
professionals
was
variable;
common
barriers
better
included
participant
clinicians
having
poor
knowledge
around
gravis,
previous
experiences
clinicians,
uncertainty
about
clinicians'
role,
lack
awareness
that
symptoms
associated
gravis.
Further
research
exploring
is
recommended,
education
for
disease
appropriately
access
care.
Heliyon,
Год журнала:
2024,
Номер
10(20), С. e39231 - e39231
Опубликована: Окт. 1, 2024
Fatigue
is
a
common
complaint
among
patients
with
myasthenia
gravis
(MG).
In
this
study,
we
investigated
the
alterations
in
muscle
morphology
MG
experiencing
fatigue
using
quantitative
electromyography
(QEMG),
and
explored
relationship
between
electrophysiological
findings
severity
of
both
disease.
Abstract
Introduction/Aims
Fluctuating
symptoms
and
fatigue
are
common
issues
in
myasthenia
gravis
(MG),
but
it
is
unclear
if
these
related
to
physical
activity
or
sleep
patterns.
This
study
sought
determine
the
day‐to‐day
relationship
between
patient‐reported
over
12
weeks.
Methods
Sixteen
participants
with
generalized
MG
wore
a
wrist‐mounted
accelerometer
continuously
for
duration
reported
their
each
evening.
Cumulative
link
mixed
models
were
used
analyze
whether
clinical
demographic
characteristics,
activity,
symptom
severity
period.
Three
types
of
constructed:
cohort
model,
model
which
data
was
scaled
participant,
individual
models.
Results
The
indicated
that
higher
disease
severity,
female
sex,
more
comorbidities,
less
inactive
time,
lower
quantity
significantly
associated
increased
(
p
<
.05).
However,
within‐participant
there
almost
no
significant
associations
sleep.
In
models,
some
showed
similar
results
others
opposite
response
variables.
Discussion
While
self‐reported
within
this
population,
not
necessarily
applicable
individuals.
demonstrates
importance
an
individualized
analysis
determining
how
may
impact
outcomes
MG,
implications
self‐management.