Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
Kennedy's disease: clinical significance of tandem repeats in the androgen receptor.
[aromatase deficiency]
Kennedy
's
disease
(
KD
)
or
spinobulbar
muscular
atrophy
is
a
hereditary
X-
linked
,
progressive
neurodegenerative
condition
caused
by
an
expansion
of
the
CAG
triplet
repeat
in
the
first
exon
of
the
androgen
receptor
gene
.
The
phenotype
in
its
full
form
is
only
expressed
in
males
and
presents
as
weakness
and
wasting
of
the
upper
and
lower
limbs
and
bulbar
muscles
associated
with
absent
reflexes
.
Sensory
disturbances
are
present
.
Various
endocrine
abnormalities
including
decreased
fertility
and
gynecomastia
are
common
and
amongst
the
first
features
of
KD
.
Animal
models
of
KD
have
demonstrated
improvement
on
withdrawal
of
testosterone
,
indicating
that
this
agonist
of
the
androgen
receptor
is
required
for
the
toxic
effect
.
Potential
therapies
based
on
testosterone
withdrawal
in
humans
have
shown
some
promise
,
but
efficacy
remains
to
be
proven
.
Potential
clinical
factors
,
pathogenesis
and
future
approaches
to
therapy
are
reviewed
in
this
chapter
.
Diseases
Validation
Diseases presenting
"weakness"
symptom
achondroplasia
adrenomyeloneuropathy
alexander disease
aniridia
aromatase deficiency
coats disease
congenital toxoplasmosis
epidermolysis bullosa simplex
esophageal adenocarcinoma
familial hypocalciuric hypercalcemia
familial mediterranean fever
focal myositis
gm1 gangliosidosis
hydrocephalus with stenosis of the aqueduct of sylvius
inclusion body myositis
locked-in syndrome
lymphangioleiomyomatosis
malignant atrophic papulosis
neuralgic amyotrophy
pendred syndrome
pleomorphic liposarcoma
pyomyositis
pyruvate dehydrogenase deficiency
sneddon syndrome
systemic capillary leak syndrome
thoracic outlet syndrome
triple a syndrome
typhoid
von hippel-lindau disease
waldenström macroglobulinemia
werner syndrome
x-linked adrenoleukodystrophy
This symptom has already been validated
