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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
"pain"
symptom
achondroplasia
acute rheumatic fever
adrenal incidentaloma
adrenomyeloneuropathy
aniridia
aromatase deficiency
carcinoma of the gallbladder
cholangiocarcinoma
coats disease
congenital diaphragmatic hernia
congenital toxoplasmosis
cushing syndrome
cutaneous mastocytosis
cystinuria
dedifferentiated liposarcoma
dentin dysplasia
dracunculiasis
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
erdheim-chester disease
erythropoietic protoporphyria
esophageal adenocarcinoma
esophageal carcinoma
esophageal squamous cell carcinoma
fabry disease
familial mediterranean fever
focal myositis
hirschsprung disease
hodgkin lymphoma, classical
holt-oram syndrome
junctional epidermolysis bullosa
kabuki syndrome
kindler syndrome
lamellar ichthyosis
liposarcoma
locked-in syndrome
lymphangioleiomyomatosis
malignant atrophic papulosis
neuralgic amyotrophy
oligodontia
oral submucous fibrosis
papillon-lefèvre syndrome
phenylketonuria
pleomorphic liposarcoma
primary hyperoxaluria type 1
proteus syndrome
pyomyositis
scrub typhus
sneddon syndrome
systemic capillary leak syndrome
thoracic outlet syndrome
trochlear dysplasia
typhoid
von hippel-lindau disease
waldenström macroglobulinemia
well-differentiated liposarcoma
wolf-hirschhorn syndrome
This symptom has already been validated