Rare Diseases Symptoms Automatic Extraction
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Bent spine syndrome as an early manifestation of myotonic dystrophy type 1.
[inclusion body myositis]
Myotonic
dystrophy
type
1
(
DM
1
)
is
highly
variable
systemic
disorder
with
prominent
myopathic
involvement
in
distal
limb
,
facial
,
and
jaw
muscles
.
Bent
spine
syndrome
presents
a
diagnostic
challenge
,
and
usually
,
DM
1
is
not
included
in
the
differential
.
We
report
2
cases
of
DM
1
with
bent
spine
syndrome
.
To
further
investigate
this
phenomenon
,
we
compared
weakness
patterns
in
a
cohort
of
DM
1
with
cohorts
of
amyotrophic
lateral
sclerosis
and
inclusion
body
myositis
and
found
that
neck
extension
weakness
is
most
pronounced
in
DM
1
.
Our
findings
emphasize
the
heterogeneity
of
DM
1
and
underscore
the
importance
of
considering
DM
1
as
a
cause
of
bent
spine
syndrome
.