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A random Abstract
Our Project
Our Team
Coats syndrome in facioscapulohumeral dystrophy type 1: frequency and D4Z4 contraction size.
[coats disease]
To
investigate
the
frequency
of
Coats
syndrome
and
its
association
with
D
4
Z
4
contraction
size
in
patients
with
facioscapulohumeral
muscular
dystrophy
type
1
(
FSHD
1
)
.
We
searched
a
North
American
FSHD
registry
and
the
University
of
Rochester
(
UR
)
FSHD
research
database
,
reviewed
the
literature
,
and
sent
surveys
to
14
FSHD
referral
centers
in
the
United
States
and
overseas
to
identify
patients
with
genetically
confirmed
FSHD
1
with
a
diagnosis
of
Coats
syndrome
.
Out
of
357
genetically
confirmed
patients
in
a
North
American
FSHD
registry
and
51
patients
in
the
UR
database
,
3
patients
had
a
self-reported
history
of
Coats
disease
(
0
.
8
%
;
95
%
confidence
interval
0
.
2
%
-
2
.
2
%
)
.
In
total
,
we
identified
14
patients
with
FSHD
with
known
genetic
contraction
size
and
Coats
syndrome
confirmed
by
ophthalmologic
examination
:
10
from
our
survey
and
4
from
the
literature
.
The
median
age
at
diagnosis
of
Coats
syndrome
was
10
years
(
interquartile
range
14
years
)
.
The
median
D
4
Z
4
fragment
size
was
13
kilobases
(
kb
)
(
interquartile
range
1
kb
)
.
One
patient
was
mosaic
(
55
%
11
kb
,
and
45
%
78
kb
)
.
Coats
syndrome
is
a
rare
extramuscular
complication
of
FSHD
1
associated
with
large
D
4
Z
4
contractions
.
Closer
surveillance
for
retinal
complications
is
warranted
in
patients
with
D
4
Z
4
fragments
≤
15
kb
.
Diseases
Validation
Diseases presenting
"muscular dystrophy"
symptom
achondroplasia
adrenomyeloneuropathy
alpha-thalassemia
coats disease
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
focal myositis
inclusion body myositis
This symptom has already been validated