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Dominant Charcot-Marie-Tooth syndrome and cognate disorders.
[neuralgic amyotrophy]
Charcot-
Marie
-
Tooth
neuropathy
(
CMT
)
is
a
group
of
genetically
heterogeneous
disorders
sharing
a
similar
phenotype
,
characterized
by
wasting
and
weakness
mainly
involving
the
distal
muscles
of
lower
and
upper
limbs
,
variably
associated
with
distal
sensory
loss
and
skeletal
deformities
.
This
chapter
deals
with
dominantly
transmitted
CMT
and
related
disorders
,
namely
hereditary
neuropathy
with
liability
to
pressure
palsies
(
HNPP
)
and
hereditary
neuralgic
amyotrophy
(
HNA
)
.
During
the
last
20
years
,
several
genes
have
been
uncovered
associated
with
CMT
and
our
understanding
of
the
underlying
molecular
mechanisms
has
greatly
improved
.
Consequently
,
a
precise
genetic
diagnosis
is
now
possible
in
the
majority
of
cases
,
thus
allowing
proper
genetic
counseling
.
Although
,
unfortunately
,
treatment
is
still
unavailable
for
all
types
of
CMT
,
several
cellular
and
animal
models
have
been
developed
and
some
compounds
have
proved
effective
in
these
models
.
The
first
trials
with
ascorbic
acid
in
CMT
type
1
A
have
been
completed
and
,
although
negative
,
are
providing
relevant
information
on
disease
course
and
on
how
to
prepare
for
future
trials
.
Diseases
Validation
Diseases presenting
"our understanding of the underlying molecular mechanisms has greatly improved"
symptom
neuralgic amyotrophy
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