Rare Diseases Symptoms Automatic Extraction
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A random Abstract
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Leukodystrophies.
[krabbe 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
"leukoencephalopathy"
symptom
adrenomyeloneuropathy
alexander disease
cadasil
canavan disease
epidermolysis bullosa simplex
gm1 gangliosidosis
hereditary cerebral hemorrhage with amyloidosis
krabbe disease
phenylketonuria
pyruvate dehydrogenase deficiency
sneddon syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
This symptom has already been validated