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[Long term clinical course of Canavan disease--a rare Japanese case].
[canavan disease]
Canavan
disease
(
CD
)
,
which
is
a
rare
disease
in
Japan
,
is
an
autosomal-recessive
neurodegenerative
disorder
caused
by
mutations
in
aspartoacylase
,
an
enzyme
that
deacetylates
N-
acetylaspartate
to
generate
free
acetate
in
the
brain
.
CD
affected
children
usually
die
by
the
age
of
10
years
.
Here
we
report
a
long
term
clinical
course
of
a
21
-
year
-old
Japanese
woman
who
was
diagnosed
as
CD
at
the
age
4
.
This
patient
is
the
only
reported
case
of
CD
in
Japan
that
has
been
biochemically
confirmed
.
Although
this
patient
is
currently
bed-ridden
with
spastic
quadriplegia
and
severe
mental
retardation
,
her
general
condition
is
quite
stable
.
This
patient
showed
a
milder
clinical
course
compared
to
the
majority
of
CD
patients
.
Because
this
is
the
only
reported
case
of
CD
in
Japan
,
we
hypothesize
that
there
might
be
an
ethnic
phenotypic
polymorphism
in
CD
.
Diseases
Validation
Diseases presenting
"long term"
symptom
adrenomyeloneuropathy
allergic bronchopulmonary aspergillosis
canavan disease
child syndrome
congenital diaphragmatic hernia
congenital toxoplasmosis
erythropoietic protoporphyria
esophageal adenocarcinoma
esophageal carcinoma
fabry disease
hirschsprung disease
hydrocephalus with stenosis of the aqueduct of sylvius
kindler syndrome
megacystis-microcolon-intestinal hypoperistalsis syndrome
oculocutaneous albinism
oligodontia
werner syndrome
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