Rare Diseases Symptoms Automatic Extraction
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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
.