Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
Adrenomyeloneuropathy in patients with 'Addison's disease': genetic case analysis.
[adrenomyeloneuropathy]
To
review
the
clinical
presentations
and
diagnostic
issues
in
adrenomyeloneuropathy
and
adrenoleukodystrophy
,
which
are
different
presentations
of
the
same
single
gene
disorder
.
Observational
study
.
Three
generations
of
an
affected
kindred
.
None
.
Neurological
features
suggestive
of
adrenoleukodystrophy
or
adrenomyeloneuropathy
.
Measurement
of
very
long
chain
fatty
acids
.
Molecular
analysis
of
the
adrenoleukodystrophy
gene
.
Three
adults
presented
with
adrenomyeloneuropathy
and
two
children
with
adrenoleukodystrophy
.
Circulating
concentrations
of
long
chain
fatty
acids
were
raised
consistent
with
clinical
features
.
A
mutation
in
exon
6
of
the
adrenoleukodystrophy
gene
(
P
543
L
)
was
identified
.
This
had
not
previously
been
identified
but
has
subsequently
been
reported
by
other
groups
.
Adrenomyeloneuropathy
should
be
considered
in
the
differential
diagnosis
in
male
patients
presenting
with
adrenal
failure
.
Early
diagnosis
allows
genetic
counselling
in
such
families
and
may
become
more
important
as
treatment
strategies
evolve
.
