Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
[Hereditary neuralgic amyotrophy: a paediatric and familial presentation of Parsonage-Turner syndrome].
[neuralgic amyotrophy]
Hereditary
neuralgic
amyotrophy
is
a
rare
disorder
,
characterized
by
recurrent
attacks
of
pain
in
a
brachial
plexus
distribution
.
We
report
the
case
of
a
12
-
year
-old
boy
with
several
attacks
of
pain
and
atrophy
of
the
muscles
of
the
shoulders
.
The
age
of
onset
of
this
disease
is
variable
,
most
frequently
in
the
second
or
third
decade
.
Pediatric
onsets
,
during
the
first
decade
are
rare
.
The
differences
between
the
hereditary
neuralgic
amyotrophy
and
the
sporadic
Parsonage-
Turner
syndrome
are
painful
recurrent
episodes
of
weakness
and
similar
familial
cases
.
The
analysis
of
several
families
has
shown
that
hereditary
neuralgic
amyotrophy
phenotype
is
heterogeneous
and
two
different
clinical
courses
can
be
discerned
.
Recent
evidence
indicates
that
HNA
is
genetically
heterogeneous
.
Pathophysiology
of
the
disease
remains
unclear
,
so
the
treatment
is
not
clearly
established
.
