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Adrenoleukodystrophy in Norway: high rate of de novo mutations and age-dependent penetrance.
[x-linked adrenoleukodystrophy]
To
investigate
X-
linked
adrenoleukodystrophy
in
an
unselected
population
,
we
performed
a
population
based
,
cross-sectional
prevalence
study
,
supplemented
by
a
retrospective
study
of
deceased
subjects
.
Sixty
-
three
subjects
(
34
males
,
29
females
)
belonging
to
22
kindreds
were
included
.
Thirty
-
nine
subjects
(
13
males
,
26
females
)
were
alive
,
and
24
(
21
males
,
3
females
)
were
deceased
on
the
prevalence
day
.
The
point
prevalence
of
X-
linked
adrenoleukodystrophy
in
Norway
on
July
1
,
2011
,
was
0
.
8
per
100
,
000
inhabitants
.
The
incidence
at
birth
in
the
period
1956
-
1995
was
1
.
6
per
100
,
000
inhabitants
.
An
age-dependent
penetrance
was
observed
among
males
and
females
,
with
more
severe
phenotypes
appearing
with
rising
age
.
Only
5
%
of
deceased
males
had
not
developed
cerebral
leukodystrophy
.
No
female
older
than
50
years
was
neurologically
intact
.
Sixteen
mutations
in
the
ABCD
1
gene
were
identified
.
De
novo
mutations
were
found
in
19
%
of
probands
.
The
frequency
of
X-
linked
adrenoleukodystrophy
was
lower
in
Norway
than
reported
in
the
literature
.
A
more
severe
natural
course
than
previously
reported
was
observed
,
indicating
a
need
for
better
follow-up
of
both
male
and
female
patients
.
Given
the
high
rate
of
de
novo
mutations
,
identification
programs
such
as
newborn
screening
may
be
required
to
offer
timely
treatment
to
all
patients
.
Diseases
Validation
Diseases presenting
"high rate"
symptom
alpha-thalassemia
classical phenylketonuria
cohen syndrome
congenital adrenal hyperplasia
congenital diaphragmatic hernia
cystinuria
dystrophic epidermolysis bullosa
erythropoietic protoporphyria
esophageal carcinoma
homocystinuria without methylmalonic aciduria
hydrocephalus with stenosis of the aqueduct of sylvius
inclusion body myositis
krabbe disease
liposarcoma
omenn syndrome
papillon-lefèvre syndrome
primary effusion lymphoma
primary hyperoxaluria type 1
proteus syndrome
pyomyositis
thoracic outlet syndrome
trochlear dysplasia
x-linked adrenoleukodystrophy
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