Rare Diseases Symptoms Automatic Extraction
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A random Abstract
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Leukodystrophies.
[alexander disease]
Leukodystrophies
comprise
a
broad
group
of
progressive
,
inherited
disorders
affecting
mainly
myelin
.
They
often
present
after
a
variable
period
of
normalcy
with
a
variety
of
neurologic
problems
.
Though
the
ultimate
diagnosis
is
not
found
in
many
patients
with
leukodystrophies
,
distinctive
features
unique
to
them
aid
in
diagnosis
,
treatment
and
prognostication
.
The
clinical
characteristics
,
etiologies
,
diagnostic
testing
and
treatment
options
are
reviewed
in
detail
for
some
of
the
major
leukodystrophies
:
X-
linked
adrenoleukodystrophy
,
Krabbe
disease
,
metachromatic
leukodystrophy
,
Pelizaeus-
Merzbacher
disease
,
Alexander
disease
,
Canavan
disease
,
megalencephalic
leukoencephalopathy
with
subcortical
cysts
and
vanishing
white
matter
disease
.
Diseases
Validation
Diseases presenting
"leukodystrophy"
symptom
achondroplasia
adrenomyeloneuropathy
alexander disease
cadasil
canavan disease
carcinoma of the gallbladder
classical phenylketonuria
coats disease
fabry disease
gm1 gangliosidosis
krabbe disease
neonatal adrenoleukodystrophy
phenylketonuria
pyruvate dehydrogenase deficiency
wiskott-aldrich syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
This symptom has already been validated