Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
Fasciculations in human hereditary disease.
[triple a syndrome]
Fasciculations
are
a
manifestation
of
peripheral
nerve
hyperexcitability
in
addition
to
myokymia
,
neuromyotonia
,
cramps
,
or
tetany
.
Fasciculations
occur
in
hereditary
and
non-hereditary
diseases
.
Among
the
hereditary
diseases
,
fasciculations
are
most
frequently
reported
in
familial
amyotrophic
lateral
sclerosis
(
FALS
)
,
and
spinal
muscular
atrophy
(
SMA
)
.
Among
the
non-hereditary
diseases
,
fasciculations
occur
most
frequently
in
peripheral
nerve
hyperexcitability
syndromes
(
Isaac
's
syndrome
,
voltage-gated
potassium
channelopathy
,
cramp
fasciculation
syndrome
,
Morvan
syndrome
)
.
If
the
cause
of
fasciculations
remains
unknown
,
they
are
called
benign
.
Systematically
reviewing
the
literature
about
fasciculations
in
hereditary
disease
shows
that
fasciculations
can
be
a
phenotypic
feature
in
bulbospinal
muscular
atrophy
(
BSMA
)
,
GM
2
-
gangliosidosis
,
triple-
A
syndrome
,
or
hereditary
neuropathy
.
Additionally
,
fasciculations
have
been
reported
in
familial
amyloidosis
,
spinocerebellar
ataxias
,
Huntington
's
disease
,
Rett
syndrome
,
central
nervous
system
disease
due
to
L
1
-
cell
adhesion
molecule
(
L
1
CAM
)
mutations
,
Fabry
's
disease
,
or
Gerstmann-
Sträussler
disease
.
Rarely
,
fasciculations
may
be
a
phenotypic
feature
in
patients
with
mitochondrial
disorders
or
other
myopathies
.
Fasciculations
are
part
of
the
phenotype
in
much
more
genetic
disorders
than
commonly
assumed
.
Fasciculations
not
only
occur
in
motor
neuron
disease
,
but
also
in
hereditary
neuropathy
,
spinocerebellar
ataxia
,
GM
2
-
gangliosidosis
,
Huntington
's
disease
,
Rett
syndrome
,
Fabry
's
disease
,
Gerstmann-
Sträussler
disease
,
mitochondrial
disorders
,
or
muscular
dystrophies
.
Diseases
Validation
Diseases presenting
"fasciculation"
symptom
inclusion body myositis
triple a syndrome
This symptom has already been validated