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Alexander's disease: reassessment of a neonatal form.
[alexander disease]
Alexander
disease
is
a
disorder
caused
by
a
mutation
and
accumulation
of
the
glial
fibrillary
acidic
protein
.
Currently
,
three
subtypes
are
acknowledged
:
an
infantile
,
a
juvenile
,
and
an
adult
form
.
However
,
onset
early
in
infancy
or
in
the
prenatal
period
has
been
shown
to
present
with
a
uniform
pattern
of
symptoms-suggesting
the
presence
of
a
distinct
neonatal
form
of
the
disease
.
Though
the
neonatal
form
of
Alexander
disease
is
not
well
acknowledged
,
a
uniform
and
distinct
presentation
of
the
disease
in
neonates
has
been
observed
,
suggesting
the
need
for
a
different
course
of
identification
and
treatment
.
Clinical
presentation
of
the
neonatal
form
is
distinguished
by
leukodystrophy
and
generalized
,
frequent
,
and
intractable
seizures
.
While
the
infantile
form
presents
with
ataxia
,
hyperreflexia
,
and
other
upper
motor
neuron
symptoms
,
none
of
these
has
been
observed
in
the
neonatal
form
.
In
the
diagnosis
of
neonatal
Alexander
disease
,
it
is
essential
to
rule
out
other
causes
of
leukodystrophy
and
the
presence
of
neoplasms
.
Diseases
Validation
Diseases presenting
"seizures"
symptom
alexander disease
alpha-thalassemia
cadasil
canavan disease
child syndrome
classical phenylketonuria
coats disease
cohen syndrome
cowden syndrome
erdheim-chester disease
familial hypocalciuric hypercalcemia
familial mediterranean fever
gm1 gangliosidosis
hirschsprung disease
homocystinuria without methylmalonic aciduria
kabuki syndrome
kallmann syndrome
krabbe disease
lamellar ichthyosis
legionellosis
locked-in syndrome
lymphangioleiomyomatosis
malignant atrophic papulosis
monosomy 21
neonatal adrenoleukodystrophy
oligodontia
phenylketonuria
proteus syndrome
pyruvate dehydrogenase deficiency
scrub typhus
sneddon syndrome
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
This symptom has already been validated
