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A random Abstract
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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
"mental retardation"
symptom
achondroplasia
alexander disease
alpha-thalassemia
aniridia
aromatase deficiency
canavan disease
classical phenylketonuria
coats disease
cohen syndrome
cowden syndrome
cystinuria
dentin dysplasia
familial hypocalciuric hypercalcemia
homocystinuria without methylmalonic aciduria
hydrocephalus with stenosis of the aqueduct of sylvius
kabuki syndrome
kallmann syndrome
lamellar ichthyosis
lymphangioleiomyomatosis
monosomy 21
phenylketonuria
primary hyperoxaluria type 1
proteus syndrome
pyruvate dehydrogenase deficiency
sneddon syndrome
triple a syndrome
wolf-hirschhorn syndrome
zellweger syndrome
This symptom has already been validated