CMT is
caused by mutations in genes
that support or produce proteins involved in the structure and function of either the peripheral nerve axon or the myelin sheath. More than 40 genes have been identified in CMT, with each gene linked to one or more types of the disease.
Does CMT run in families?
CMT can run in a family
, even when there is no obvious family history. In part, this is because CMT can be inherited in three different ways — X-linked, autosomal dominant, and autosomal recessive — that are not always easy to trace through a family tree.
How is CMT passed down?
Autosomal dominant inheritance of CMT occurs when 1 copy of a mutated gene is enough to cause the condition. If either parent carries a faulty gene, there’s
a 50% chance the condition will
be passed on to each child they have.
Can CMT be passed from mother to son?
Autosomal dominant inheritance of CMT occurs when 1 copy of a mutated gene is enough to cause the condition. If either parent carries a faulty gene,
there’s a 50% chance the condition will be passed on to each child
they have.
Can CMT skip a generation?
If a woman with the defective X chromosome only has daughters, CMT can skip a
generation until one of her grandsons inherits it
.
At what age does CMT present?
The symptoms of CMT usually start to appear
between the ages of 5 and 15
, although they sometimes do not develop until well into middle age or later. CMT is a progressive condition. This means the symptoms slowly get worse, making everyday tasks increasingly difficult.
Is CMT more common in males or females?
X-linked CMT is the second-most common form of the disease. It seems that
males
with X-linked CMT show more severe signs then women.
Does CMT affect speech?
problems speaking,
breathing or swallowing
(dysphagia) – these symptoms are rare in CMT.
Who is most likely to get Charcot Marie Tooth disease?
In most cases,
affected males
, who have the alteration on their only copy of the X chromosome, experience more severe symptoms of the disorder than affected females, who have the alteration on one of their two X chromosomes.
Can CMT be prevented?
There is no cure for CMT and it can’t be prevented
. Treatment usually involves a combination of physical therapy, occupational therapy, moderate exercise, leg braces, and shoe inserts. In some cases, surgery may be performed to correct foot or joint deformities.
How do you help someone with CMT?
One of the most meaningful ways to support someone with CMT is
to donate to support research that could improve or save
their lives. You can make a gift to the CMT Research Foundation in your loved one’s honor. When you do, we’ll send a message letting them know about your support.
Can CMT affect your heart?
Charcot-Marie-Tooth disease (peroneal muscular atrophy) has been reported to cause
cardiac arrthymias and conduction disturbances
in association with peripheral muscle atrophy.
Can CMT affect your eyes?
In CMT Type 6 symptoms can start either in
early childhood
, teenage years or adulthood. CMT Type 6 involves development of optic atrophy with loss of vision or blindness, muscle atrophy and weakness, loss of sensation, and balance and gait difficulties.
Is Charcot-Marie-Tooth autoimmune?
The phenotypic features encompasses neurological alterations similar to those observed in the axonal type 2 form of Charcot-Marie-Tooth disease (CMT2) and include
autoimmune manifestations
.
Does CMT make tired?
Fatigue is a common symptom in CMT
. A study, published in the Journal of Neurology in 2010 and based on questionnaire given patients and an age- and sex-matched control group, reported that fatigue levels were significantly higher in people with CMT.
What is Charcot Marie Tooth disease Type 2?
CHARCOT-MARIE-TOOTH disease (CMT) type 2 or hereditary motor and sensory neuropathy type 2 is
a genetically heterogeneous group of axonal neuropathies with motor and sensory abnormalities and signs of axonal degeneration on electrodiagnostic investigation
and in sural nerve biopsy specimens.