Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
[Severe form of hereditary neuralgic amyotrophy without SEPT9 gene mutation].
[neuralgic amyotrophy]
Hereditary
neuralgic
amyotrophy
(
HNA
)
is
a
rare
condition
characterized
by
recurrent
episodes
of
painful
paralysis
preferentially
affecting
the
brachial
plexus
.
It
is
often
linked
to
a
mutation
in
the
SEPT
9
Â
gene
.
A
69
-
year
-old
female
patient
experienced
a
dozen
episodes
of
severe
neurological
deficit
mainly
affecting
the
brachial
plexus
and
the
phrenic
and
recurrent
nerves
.
The
diagnosis
of
HNA
without
SEPT
9
Â
gene
mutation
was
retained
.
HNA
can
have
significant
sequelae
.
A
genetic
heterogeneity
exists
and
mutations
in
the
SEPT
9
Â
gene
may
not
be
found
.
Immunomodulatory
and
corticosteroid
treatments
have
sometimes
proved
to
be
effective
.
Diseases
Validation
Diseases presenting
"the phrenic and recurrent nerves"
symptom
neuralgic amyotrophy
You can validate or delete this automatically detected symptom
Validate the Symptom
Delete the Symptom