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Adrenoleukodystrophy.
[adrenomyeloneuropathy]
X-
linked
adrenoleukodystrophy
(
ALD
)
is
caused
by
mutations
in
the
ABCD
1
gene
that
encodes
a
protein
of
the
peroxisomal
membrane
named
ALDP
.
Mutations
in
ALDP
result
in
elevated
levels
of
very
long
chain
fatty
acids
(
VLCFA
)
and
reduced
VLCFA
oxidation
in
peroxisomes
.
Three
main
phenotypes
are
seen
in
affected
males
.
The
childhood
cerebral
form
manifests
usually
between
ages
4
and
8
years
.
It
initially
resembles
attention
deficit
disorder
or
hyperactivity
.
Progressive
central
demyelination
with
impairment
of
cognition
,
behavior
,
vision
,
hearing
,
and
motor
function
follow
the
initial
symptoms
and
often
lead
to
total
disability
within
2
years
.
The
second
phenotype
,
adrenomyeloneuropathy
,
manifests
most
commonly
in
the
late
twenties
as
progressive
paraparesis
,
sphincter
disturbances
,
sexual
dysfunction
,
and
often
,
impaired
adrenocortical
function
;
all
symptoms
are
progressive
over
decades
.
The
third
phenotype
,
'
Addison
disease
only
'
,
presents
with
primary
adrenocortical
insufficiency
between
age
2
years
and
adulthood
and
most
commonly
by
age
7
.
5
years
,
without
evidence
of
neurologic
abnormality
.
Approximately
50
%
of
females
who
are
carriers
develop
neurologic
manifestations
that
resemble
adrenomyeloneuropathy
but
have
a
later
onset
(
age
≥
35
years
)
and
a
milder
disease
.
In
this
review
,
we
will
give
an
overview
of
the
present
understanding
of
ALD
,
and
the
implications
of
new
diagnostics
and
treatment
.
Diseases
Validation
Diseases presenting
"motor function"
symptom
adrenomyeloneuropathy
canavan disease
carcinoma of the gallbladder
classical phenylketonuria
gm1 gangliosidosis
hirschsprung disease
hydrocephalus with stenosis of the aqueduct of sylvius
krabbe disease
locked-in syndrome
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