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GM1 gangliosidosis, late infantile onset dystonia, and T2 Hypointensity in the globus pallidus and substantia Nigra.
[gm1 gangliosidosis]
GM
1
gangliosidosis
is
a
rare
disease
due
to
mutations
in
the
GLB
1
gene
and
autosomal
recessive
deficiency
of
β-galactosidase
.
There
is
considerable
overlap
between
classical
phenotypes
and
clinical
and
imaging
findings
,
which
are
often
difficult
to
interpret
.
The
patient
in
this
study
had
dysmorphism
,
dysostosis
,
progressive
dystonia
,
and
T
2
hypointensity
in
the
basal
ganglia
.
Partially
similar
clinical
and
radiologic
findings
were
described
previously
in
two
reports
.
T
2
hypointensity
in
the
globus
pallidus
should
,
in
the
appropriate
clinical
setting
,
lead
to
consideration
of
the
diagnosis
of
GM
1
gangliosidosis
.
Diseases
Validation
Diseases presenting
"mutations in the glb1 gene"
symptom
gm1 gangliosidosis
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