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Hereditary neuropathy with liability to pressure palsy: a brief review with a case report.
[neuralgic amyotrophy]
Hereditary
Neuropathy
with
Liability
to
Pressure
Palsy
(
HNPP
)
is
an
autosomal
dominant
disorder
and
is
usually
characterized
by
episodes
of
recurrent
and
painless
focal
motor
and
sensory
peripheral
mononeuropathy
.
This
condition
is
usually
localized
around
areas
of
entrapment
(
predominantly
the
wrists
,
knees
,
elbows
,
and
shoulders
)
.
The
genetic
locus
of
the
disease
is
chromosome
17
p
12
.
A
deletion
of
the
PMP
22
gene
results
in
the
lack
of
peripheral
myelin
protein
,
a
key
component
to
the
myelin
sheet
of
peripheral
nerves
.
However
,
this
disease
may
be
completely
asymptomatic
until
an
event
,
such
as
a
minor
trauma
,
triggers
these
episodes
,
as
seen
in
our
presented
case
report
.
The
diagnosis
of
HNPP
can
be
somewhat
challenging
,
as
other
diseases
,
such
as
Charcot-
Marie
-
Tooth
disease
type
1
A
(
CMT
)
and
Hereditary
Neuralgic
Amyotrophy
(
HNA
)
must
be
included
in
the
differential
diagnosis
due
to
their
overlapping
clinical
features
.
There
are
currently
no
treatments
to
cure
the
disease
,
but
therapies
seek
to
alleviate
the
symptoms
and
recurring
episodes
.
Diseases
Validation
Diseases presenting
"a key component to the myelin sheet of peripheral nerves"
symptom
neuralgic amyotrophy
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