Rare Diseases Symptoms Automatic Extraction
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A random Abstract
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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
"spasticity"
symptom
adrenomyeloneuropathy
alexander disease
congenital toxoplasmosis
gm1 gangliosidosis
homocystinuria without methylmalonic aciduria
hydrocephalus with stenosis of the aqueduct of sylvius
krabbe disease
lamellar ichthyosis
neonatal adrenoleukodystrophy
pyruvate dehydrogenase deficiency
x-linked adrenoleukodystrophy
zellweger syndrome
This symptom has already been validated
