Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
Neuromuscular features in the camera-marugo-cohen syndrome.
[cohen syndrome]
We
describe
the
case
of
a
24
-
year
-old
Japanese
man
suffering
from
obesity
,
mental
retardation
,
muscle
weakness
,
camptodactyly
,
syndactyly
,
and
a
urinary
tract
cleft
.
His
muscle
weakness
,
which
was
slightly
distally
dominant
in
the
extremities
,
was
almost
static
and
showed
slow
progression
for
several
years
.
He
had
normal
blood
chromosomes
(
46
,
XY
)
and
showed
normal
levels
of
sex
hormones
.
A
needle
electromyographic
examination
of
the
upper
-
and
lower-
limb
muscles
revealed
a
reinnervation
pattern
with
large
-amplitude
,
long
-duration
motor
unit
potentials
.
A
muscle
biopsy
also
showed
denervation
and
reinnervation
patterns
,
with
small
-group
atrophy
and
type
grouping
,
with
numerous
small
,
angulated
fibers
.
Our
findings
suggest
that
these
neuromuscular
features
of
the
Camera-
Marugo-
Cohen
syndrome
are
caused
by
neurogenic
changes
rather
than
myogenic
changes
.
Diseases
Validation
Diseases presenting
"limb muscles"
symptom
cohen syndrome
focal myositis
neuralgic amyotrophy
waldenström macroglobulinemia
You can validate or delete this automatically detected symptom
Validate the Symptom
Delete the Symptom