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[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
.
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