Rare Diseases Symptoms Automatic Extraction
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Inherited myelopathies.
[adrenomyeloneuropathy]
Inherited
myelopathies
are
a
small
,
but
important
subset
of
diseases
that
cause
dysfunction
of
the
spinal
cord
.
Manifestations
can
include
various
combinations
of
signs
and
symptoms
,
including
disturbance
of
gait
,
spasticity
,
paraplegia
,
amyotrophy
,
sensory
loss
,
and
urinary
sphincter
dysfunction
.
These
diseases
can
be
divided
into
classes
that
include
(
1
)
distal
axonopathies-exemplified
by
hereditary
spastic
paraplegia
,
(
2
)
motor
neuron
diseases
including
familial
amyotrophic
lateral
sclerosis
and
spinal
muscular
atrophy
,
(
3
)
inborn
errors
of
metabolism
such
as
adrenomyeloneuropathy
,
and
(
4
)
other
inherited
diseases
with
myelopathy
as
part
of
their
spectrum
of
manifestations
.
Although
the
inherited
myelopathies
are
relatively
rare
diseases
,
knowledge
of
them
and
their
manifestations
is
important
for
the
physician
faced
with
a
patient
with
myelopathy
,
particularly
if
there
are
similarly
affected
individuals
in
the
patient
's
family
.
In
addition
,
understanding
the
pathophysiologic
underpinnings
of
these
diseases
provides
insight
into
the
molecular
biology
of
the
nervous
system
and
provides
a
gateway
toward
developing
treatments
for
these
diseases
.
Diseases
Validation
Diseases presenting
"spastic paraplegia"
symptom
adrenomyeloneuropathy
cohen syndrome
hydrocephalus with stenosis of the aqueduct of sylvius
malignant atrophic papulosis
pyomyositis
werner syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
This symptom has already been validated
