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Congenital muscular dystrophy, myasthenic symptoms and epidermolysis bullosa simplex (EBS) associated with mutations in the PLEC1 gene encoding plectin.
[epidermolysis bullosa simplex]
Mutations
in
the
PLEC
1
gene
encoding
plectin
have
been
reported
in
neonatal
epidermolysis
bullosa
simplex
with
muscular
dystrophy
of
later-onset
(
EBS-
MD
)
.
A
neuromuscular
transmission
defect
has
been
reported
in
one
previous
patient
.
We
report
a
boy
presenting
from
birth
with
features
of
a
congenital
muscular
dystrophy
and
late-onset
myasthenic
symptoms
.
Repetitive
nerve
stimulation
showed
significant
decrement
,
and
strength
improved
with
pyridostigmine
.
Subtle
blistering
noticed
only
retrospectively
prompted
further
genetic
testing
,
revealing
recessive
PLEC
1
mutations
.
We
conclude
that
PLEC
1
should
be
considered
in
the
differential
diagnosis
of
congenital
muscular
dystrophies
and
myasthenic
syndromes
,
even
in
the
absence
of
prominent
skin
involvement
.
Diseases
Validation
Diseases presenting
"congenital muscular dystrophies"
symptom
epidermolysis bullosa simplex
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