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Autonomic dysfunction in adult-onset alexander disease: a case report and review of the literature.
[alexander disease]
Alexander
disease
(
AxD
)
is
an
astrogliopathy
,
resulting
from
a
mutation
in
the
glial
fibrillary
astrocytic
protein
gene
.
Different
clinical
subtypes
have
been
described
,
including
infantile
,
juvenile
,
and
adult
onset
,
based
upon
the
age
at
which
symptoms
begin
.
Patients
with
the
adult-onset
form
,
develop
a
progressive
,
spastic
paraparesis
,
palatal
myoclonus
,
ataxia
,
and
bulbar
weakness
.
Autonomic
nervous
system
(
ANS
)
dysfunction
has
been
reported
as
a
potential
manifestation
of
adult-onset
AxD
,
but
has
not
been
well
characterized
.
We
report
a
case
of
adult-onset
AxD
with
symptomatic
orthostatic
hypotension
(
OH
)
and
heat
intolerance
that
underwent
formal
autonomic
testing
.
In
addition
,
a
comprehensive
literature
search
was
conducted
to
review
the
frequency
and
pattern
of
autonomic
dysfunction
in
this
patient
population
.
A
51
-
year
-old
patient
was
diagnosed
with
AxD
at
the
age
of
47
,
following
an
8
-
year
history
of
vertigo
,
intermittent
diplopia
,
and
sleep
disturbance
.
The
patient
developed
symptoms
of
OH
,
erectile
dysfunction
,
and
heat
intolerance
soon
after
his
diagnosis
.
Autonomic
testing
demonstrated
OH
on
tilt-table
testing
(
47
Â
mmHg
decrease
in
BP
with
18
BPM
heart
rate
increment
)
with
absent
late
phase
II
and
IV
responses
during
the
Valsalva
maneuver
,
severe
cardiovagal
impairment
,
and
preserved
postganglionic
sympathetic
sudomotor
function
.
These
findings
were
interpreted
as
being
consistent
with
central
autonomic
failure
.
The
most
common
autonomic
symptoms
reported
in
other
AxD
cases
include
constipation
,
urinary
incontinence
,
and
sphincter
dysfunction
.
To
our
knowledge
,
this
is
the
first
report
of
formal
autonomic
testing
in
AxD
.
Signs
and
symptoms
of
ANS
impairment
can
occur
in
patients
with
AxD
,
and
can
include
orthostatic
hypotension
and
bowel
/
bladder
dysfunction
.
Autonomic
testing
in
our
patient
suggests
impairment
in
central
autonomic
pathways
.
Diseases
Validation
Diseases presenting
"palatal myoclonus"
symptom
alexander disease
This symptom has already been validated