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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
"weakness"
symptom
achondroplasia
adrenomyeloneuropathy
alexander disease
aniridia
aromatase deficiency
coats disease
congenital toxoplasmosis
epidermolysis bullosa simplex
esophageal adenocarcinoma
familial hypocalciuric hypercalcemia
familial mediterranean fever
focal myositis
gm1 gangliosidosis
hydrocephalus with stenosis of the aqueduct of sylvius
inclusion body myositis
locked-in syndrome
lymphangioleiomyomatosis
malignant atrophic papulosis
neuralgic amyotrophy
pendred syndrome
pleomorphic liposarcoma
pyomyositis
pyruvate dehydrogenase deficiency
sneddon syndrome
systemic capillary leak syndrome
thoracic outlet syndrome
triple a syndrome
typhoid
von hippel-lindau disease
waldenström macroglobulinemia
werner syndrome
x-linked adrenoleukodystrophy
This symptom has already been validated