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Deep Brain Stimulation and Dantrolene for Secondary Dystonia in X-Linked Adrenoleukodystrophy.
[x-linked adrenoleukodystrophy]
Deep
brain
stimulation
(
DBS
)
has
been
used
to
treat
secondary
dystonias
caused
by
inborn
errors
of
metabolism
with
varying
degrees
of
effectiveness
.
Here
we
report
for
the
first
time
the
application
of
DBS
as
treatment
for
secondary
dystonia
in
a
22
-
year
-old
male
with
X-
linked
adrenoleukodystrophy
(
X-
ALD
)
.
The
disease
manifested
at
age
6
with
ADHD
,
tics
,
and
dystonic
gait
,
and
deteriorated
to
loss
of
ambulation
by
age
11
,
and
speech
difficulties
,
seizures
,
and
characteristic
adrenal
insufficiency
by
age
16
.
DBS
in
the
globus
pallidus
internus
was
commenced
at
age
18
.
However
,
after
25
months
,
no
improvement
in
dystonia
was
observed
(
Burke-
Fahn-
Marsden
(
BFM
)
scores
of
65
.
5
and
62
and
disability
scores
of
28
and
26
,
pre-
and
post-
DBS
,
respectively
)
and
the
DBS
device
was
removed
.
Treatment
with
dantrolene
reduced
skeletal
muscle
tone
and
improved
movement
(
Global
Dystonia
Rating
Scores
from
5
to
1
and
BFM
score
42
)
.
Therefore
,
we
conclude
that
DBS
was
a
safe
but
ineffective
intervention
in
our
case
with
long
-standing
dystonia
,
whereas
treatment
of
spasticity
with
dantrolene
did
improve
the
movement
disorder
in
this
young
man
with
X-
ALD
.
Diseases
Validation
Diseases presenting
"first time"
symptom
achondroplasia
acute rheumatic fever
adrenal incidentaloma
adrenomyeloneuropathy
alpha-thalassemia
aniridia
aromatase deficiency
canavan disease
carcinoma of the gallbladder
cholangiocarcinoma
classical phenylketonuria
congenital adrenal hyperplasia
congenital toxoplasmosis
cowden syndrome
cushing syndrome
cutaneous mastocytosis
dedifferentiated liposarcoma
dentin dysplasia
dentinogenesis imperfecta
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
gm1 gangliosidosis
harlequin ichthyosis
heparin-induced thrombocytopenia
hirschsprung disease
hodgkin lymphoma, classical
holt-oram syndrome
hydrocephalus with stenosis of the aqueduct of sylvius
junctional epidermolysis bullosa
kabuki syndrome
kallmann syndrome
liposarcoma
locked-in syndrome
lymphangioleiomyomatosis
malignant atrophic papulosis
megacystis-microcolon-intestinal hypoperistalsis syndrome
monosomy 21
neuralgic amyotrophy
oculocutaneous albinism
oligodontia
omenn syndrome
oral submucous fibrosis
papillon-lefèvre syndrome
pendred syndrome
phenylketonuria
primary effusion lymphoma
primary hyperoxaluria type 1
severe combined immunodeficiency
sneddon syndrome
triple a syndrome
trochlear dysplasia
von hippel-lindau disease
waldenström macroglobulinemia
well-differentiated liposarcoma
werner syndrome
wiskott-aldrich syndrome
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
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