Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
Pearls: myelopathy.
[adrenomyeloneuropathy]
Both
general
neurologists
and
neurologists
with
a
broad
spectrum
of
subspecialty
interests
are
often
asked
to
evaluate
patients
with
disorders
of
the
spinal
cord
.
Over
the
past
decade
,
there
have
been
significant
advances
in
our
understanding
of
a
wide
spectrum
of
immune-mediated
,
infectious
,
metabolic
,
hereditary
,
paraneoplastic
,
and
compressive
myelopathies
.
Advances
have
been
made
in
the
classification
and
management
of
spinal
vascular
malformations
.
Aortic
reconstruction
surgery
has
led
to
an
increased
incidence
of
spinal
cord
stroke
.
It
is
important
to
recognize
a
dural
arteriovenous
fistula
as
a
cause
of
progressive
myelopathy
.
In
the
past
,
noninfectious
inflammatory
myelopathies
have
frequently
been
categorized
as
idiopathic
transverse
myelitis
.
Advances
in
neuroimaging
and
discovery
of
a
serum
antibody
marker
,
neuromyelitis
optica
-immunoglobulin
G
(
NMO-IgG
)
,
have
allowed
more
specific
diagnoses
,
such
as
multiple
sclerosis
and
neuromyelitis
optica
.
Abnormalities
suggestive
of
demyelinating
disease
on
brain
magnetic
resonance
imaging
(
MRI
)
are
known
to
be
highly
predictive
of
conversion
to
multiple
sclerosis
in
a
patient
who
presents
with
a
transverse
myelitis
(
"
clinically
isolated
syndrome
"
)
.
Acquired
copper
deficiency
can
cause
a
clinical
picture
that
mimics
the
subacute
combined
degeneration
seen
with
vitamin
B
(
12
)
deficiency
.
A
history
of
bariatric
surgery
is
commonly
noted
in
patients
with
copper
deficiency
myelopathy
.
Genetics
has
advanced
our
understanding
of
the
complex
field
of
hereditary
myelopathies
.
Three
hereditary
myelopathy
phenotypes
are
recognized
:
predominantly
cerebellar
(
e
.
g
.
,
Friedreich
's
ataxia
)
,
predominantly
motor
(
e
.
g
.
,
hereditary
spastic
paraparesis
)
,
and
a
leukodystrophy
phenotype
(
e
.
g
.
,
adrenomyeloneuropathy
)
.
Evaluation
of
myelopathies
when
no
abnormalities
are
seen
on
spinal
cord
imaging
is
a
commonly
encountered
diagnostic
challenge
.
This
article
presents
some
"
clinical
pearls
"
in
the
evaluation
and
management
of
spinal
cord
diseases
in
context
of
these
recent
developments
.
Diseases
Validation
Diseases presenting
"spastic paraparesis"
symptom
adrenomyeloneuropathy
alexander disease
gm1 gangliosidosis
krabbe disease
phenylketonuria
x-linked adrenoleukodystrophy
This symptom has already been validated