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Phenotypic spectrum of hereditary neuralgic amyotrophy caused by the SEPT9 R88W mutation.
[neuralgic amyotrophy]
Hereditary
neuralgic
amyotrophy
(
HNA
)
,
also
known
as
hereditary
brachial
plexus
neuropathy
,
has
phenotypic
and
genetic
heterogeneity
.
Mutations
in
the
septin
9
(
SEPT
9
)
gene
were
recently
identified
in
some
HNA
patients
.
The
phenotypic
spectrum
of
HNA
caused
by
SEPT
9
mutations
is
not
well
known
.
To
characterise
the
phenotype
of
a
large
family
of
HNA
patients
with
the
SEPT
9
R
88
W
mutation
.
W
e
report
clinical
,
electrophysiological
,
neuroimaging
and
genetic
findings
of
six
HNA
patients
from
a
Japanese
family
.
All
17
neuropathic
episodes
identified
were
selectively
and
asymmetrically
distributed
in
the
upper
-
limb
nerves
.
Severe
pain
was
an
initial
symptom
in
16
episodes
(
94
%
)
.
Motor
weakness
occurred
in
15
(
88
%
)
and
sensory
signs
in
10
(
59
%
)
.
A
minor
dysmorphism
,
hypotelorism
,
was
seen
in
all
.
Nerve
conduction
studies
revealed
focal
demyelination
as
well
as
prominent
axonal
degeneration
changes
.
Needle
electromyography
revealed
chronic
neurogenic
patterns
only
in
the
upper
limbs
.
An
MRI
study
showed
a
gadolinium-enhanced
brachial
plexus
.
The
missense
mutation
c
.
262
C
>
T
;
p
.
R
88
W
was
found
in
exon
2
of
SEPT
9
in
all
patients
.
The
SEPT
9
R
88
W
mutation
in
this
family
causes
selective
involvement
of
the
brachial
plexus
and
upper
-
limb
nerves
.
Wider
and
more
universal
recognition
of
clinical
hallmarks
and
genetic
counselling
are
of
diagnostic
importance
for
HNA
caused
by
the
SEPT
9
mutation
.
Diseases
Validation
Diseases presenting
"large family"
symptom
cadasil
dentinogenesis imperfecta
fabry disease
holt-oram syndrome
kindler syndrome
monosomy 21
neuralgic amyotrophy
wiskott-aldrich syndrome
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