Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
Stiff child syndrome with mutation of DYT1 gene.
[child syndrome]
The
authors
report
a
Chinese
boy
with
a
DYT
1
gene
mutation
having
muscle
stiffness
,
severe
painful
muscle
spasm
,
myoclonus
,
and
dystonia
compatible
with
stiff
child
syndrome
.
Autoantibodies
to
glutamic
acid
decarboxylase
(
anti-
GAD
)
were
absent
.
His
asymptomatic
mother
had
a
DYT
1
mutation
.
His
asymptomatic
sister
has
diabetes
mellitus
and
antibodies
to
glutamic
acid
decarboxylase
but
no
DYT
1
mutation
.
Diseases
Validation
Diseases presenting
"antibodies to glutamic acid decarboxylase but no dyt1 mutation"
symptom
child syndrome
You can validate or delete this automatically detected symptom
Validate the Symptom
Delete the Symptom