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X-linked adrenoleukodystrophy in heterozygous female patients: women are not just carriers.
[x-linked adrenoleukodystrophy]
X-
linked
adrenoleukodystrophy
(
X-
ALD
)
is
a
recessive
X-
linked
disorder
associated
with
marked
phenotypic
variability
.
Female
carriers
are
commonly
thought
to
be
normal
or
only
mildly
affected
,
but
their
disease
still
needs
to
be
better
described
and
systematized
.
To
review
and
systematize
the
clinical
features
of
heterozygous
women
followed
in
a
Neurogenetics
Clinic
.
We
reviewed
the
clinical
,
biochemical
,
and
neuroradiological
data
of
all
women
known
to
have
X-ADL
.
The
nine
women
identified
were
classified
into
three
groups
:
with
severe
and
aggressive
diseases
;
with
slowly
progressive
,
spastic
paraplegia
;
and
with
mildly
decreased
vibratory
sensation
,
brisk
reflexes
,
and
no
complaints
.
Many
of
these
women
did
not
have
a
known
family
history
of
X-
ALD
.
Heterozygous
women
with
X-ADL
have
a
wide
spectrum
of
clinical
manifestations
,
ranging
from
mild
to
severe
phenotypes
.
Diseases
Validation
Diseases presenting
"mildly decreased vibratory sensation"
symptom
x-linked adrenoleukodystrophy
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