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Autosomal dominant hereditary sensory neuropathy with chronic cough and gastro-oesophageal reflux: clinical features in two families linked to chromosome 3p22-p24.
[triple a syndrome]
Autosomal
dominant
hereditary
sensory
neuropathy
(
HSN
I
)
is
a
clinically
and
genetically
heterogeneous
group
of
disorders
,
and
in
some
families
it
is
due
to
mutations
in
the
serine
palmitoyltransferase
(
SPTLC
1
)
gene
.
We
have
characterized
two
families
with
HSN
I
associated
with
cough
and
gastro-oesophageal
reflux
(
GOR
)
.
From
a
large
Australian
family
,
27
individuals
and
from
a
smaller
family
,
11
individuals
provided
clinical
information
and
blood
for
genetic
analysis
.
Affected
individuals
had
an
adult
onset
of
paroxysmal
cough
,
GOR
and
distal
sensory
loss
.
Cough
could
be
triggered
by
noxious
odours
or
by
pressure
in
the
external
auditory
canal
(
Arnold
's
ear
-
cough
reflex
)
.
Other
features
included
throat
clearing
,
hoarse
voice
,
cough
syncope
and
sensorineural
hearing
loss
.
Neurophysiological
and
pathological
studies
demonstrated
a
sensory
axonal
neuropathy
.
Gastric
emptying
studies
were
normal
,
and
autonomic
function
and
sweat
tests
were
either
normal
or
showed
distal
hypohidrosis
.
Cough
was
likely
to
be
due
to
a
combination
of
denervation
hypersensitivity
of
the
upper
airways
and
oesophagus
,
and
prominent
GOR
.
Most
affected
individuals
were
shown
on
24
h
ambulatory
oesophageal
pH
monitoring
to
have
multiple
episodes
of
GOR
,
closely
temporally
associated
with
coughing
.
Hoarse
voice
was
probably
attributable
to
acid-induced
laryngeal
damage
,
and
there
was
no
evidence
of
vocal
cord
palsy
.
No
other
cause
for
cough
was
found
on
most
respiratory
or
otorhinological
studies
.
Linkage
to
chromosome
3
p
22
-
p
24
has
been
found
in
both
families
,
with
no
evidence
of
linkage
to
loci
for
known
HSN
I
,
autosomal
dominant
hereditary
motor
and
sensory
neuropathy
,
hereditary
GOR
or
triple
A
syndrome
.
These
families
represent
a
genetically
novel
variant
of
HSN
I
,
with
a
distinctive
cough
owing
to
involvement
of
the
upper
aerodigestive
tract
.
Diseases
Validation
Diseases presenting
"dominant hereditary motor"
symptom
triple a syndrome
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