Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
Sporadic inclusion body myositis: the genetic contributions to the pathogenesis.
[inclusion body myositis]
Sporadic
inclusion
body
myositis
(
sIBM
)
is
the
commonest
idiopathic
inflammatory
muscle
disease
in
people
over
50
years
old
.
It
is
characterized
by
slowly
progressive
muscle
weakness
and
atrophy
,
with
typical
pathological
changes
of
inflammation
,
degeneration
and
mitochondrial
abnormality
in
affected
muscle
fibres
.
The
cause
(
s
)
of
sIBM
are
still
unknown
,
but
are
considered
complex
,
with
the
contribution
of
multiple
factors
such
as
environmental
triggers
,
ageing
and
genetic
susceptibility
.
This
review
summarizes
the
current
understanding
of
the
genetic
contributions
to
sIBM
and
provides
some
insights
for
future
research
in
this
mysterious
disease
with
the
advantage
of
the
rapid
development
of
advanced
genetic
technology
.
An
international
sIBM
genetic
study
is
ongoing
and
whole-exome
sequencing
will
be
applied
in
a
large
cohort
of
sIBM
patients
with
the
aim
of
unravelling
important
genetic
risk
factors
for
sIBM
.
Diseases
Validation
Diseases presenting
"myositis"
symptom
focal myositis
inclusion body myositis
malignant atrophic papulosis
pyomyositis
systemic capillary leak syndrome
This symptom has already been validated
