Rare Diseases Symptoms Automatic Extraction
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Chorea.
[acute rheumatic fever]
Chorea
is
an
involuntary
movement
disorder
characterised
by
flowing
and
rhythmic
in
nature
.
Hyperkinetic
movement
disorders
such
as
myoclonus
may
be
mistaken
for
chorea
.
Pathogenes
of
chorea
is
complex
and
results
from
dysfunction
of
network
between
motor
nucleus
of
thalamus
and
subcortical
nuclei
including
globus
pallidus
interna
.
There
are
genetic
and
non
genetic
causes
of
chorea
.
Huntington
's
disease
is
most
common
genetic
cause
of
chorea
.
Clinical
manifestations
of
Huntington
's
disease
are
mainly
neurological
and
psychiatric
.
Recently
non
neurological
clinical
manifestations
of
this
disease
have
been
described
.
Genetic
test
for
Huntington
's
disease
is
available
which
may
be
done
for
diagnosis
and
detection
of
family
members
at
risk
of
developing
disease
.
Other
genetic
causes
of
chorea
are
neuroacanthocytosis
and
Wilson
's
disease
.
Treatment
of
genetic
causes
of
chore
is
usually
symptomatic
with
exception
of
Wilson
's
disease
.
Sydenham
's
chorea
is
a
neurological
manifestation
of
acute
rheumatic
fever
and
most
important
cause
of
chorea
seen
in
paediatric
population
.
Treatment
includes
penicillin
prophylaxis
and
drugs
such
as
sodium
valproate
and
carbamazepine
.
Diagnosis
of
chorea
is
mainly
clinical
.
Family
history
is
very
important
in
diagnosis
of
genetic
causes
of
chorea
.
In
other
patients
a
detailed
work
up
is
required
before
a
final
diagnosis
is
made
.
Hematological
and
blood
chemistry
investigations
are
helpful
in
diagnosis
of
some
of
the
patients
.
Neuro
imaging
may
also
be
useful
mainly
in
Huntington
's
disease
patients
.
Metabolic
disorders
and
drugs
are
very
important
causes
of
non
genetic
chorea
.
Early
diagnosis
is
important
because
majority
of
the
patients
respond
to
the
treatment
.
Diseases
Validation
Diseases presenting
"early diagnosis"
symptom
achondroplasia
acute rheumatic fever
adrenal incidentaloma
adrenomyeloneuropathy
alexander disease
allergic bronchopulmonary aspergillosis
aromatase deficiency
carcinoma of the gallbladder
cholangiocarcinoma
classical phenylketonuria
coats disease
cohen syndrome
congenital adrenal hyperplasia
congenital diaphragmatic hernia
congenital toxoplasmosis
cowden syndrome
cushing syndrome
cutaneous mastocytosis
cystinuria
dentin dysplasia
dentinogenesis imperfecta
dracunculiasis
erdheim-chester disease
erythropoietic protoporphyria
esophageal carcinoma
esophageal squamous cell carcinoma
fabry disease
familial hypocalciuric hypercalcemia
familial mediterranean fever
gm1 gangliosidosis
hirschsprung disease
holt-oram syndrome
homocystinuria without methylmalonic aciduria
hydrocephalus with stenosis of the aqueduct of sylvius
inclusion body myositis
kabuki syndrome
kallmann syndrome
kindler syndrome
krabbe disease
locked-in syndrome
monosomy 21
neuralgic amyotrophy
oculocutaneous albinism
oligodontia
omenn syndrome
oral submucous fibrosis
papillon-lefèvre syndrome
phenylketonuria
primary effusion lymphoma
primary hyperoxaluria type 1
proteus syndrome
pyomyositis
pyruvate dehydrogenase deficiency
scrub typhus
severe combined immunodeficiency
sneddon syndrome
systemic capillary leak syndrome
thoracic outlet syndrome
triple a syndrome
typhoid
von hippel-lindau disease
wiskott-aldrich syndrome
wolf-hirschhorn syndrome
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