Download . Causes CMT is caused by gene mutation that produce proteins that

Causes
CMT is caused by gene mutation that
produce
proteins that are involved
.
with the structure and function of
either the peripheral nerve axon or
the myelin sheath. Some forms of
CMT are inherited in an autosomal
dominant and autosomal recessive
fashion. Depending on the Type there
can be a mutation on chromosome 17
or in Mitosis 2.
Symptoms
 Affects both motor and
sensory nerves.
 Weakness of the foot and
lower leg muscles.
 Foot drop
 High stepped gait.
 “inverted change bootleg”
appearance in the legs.
 Eventually CMT affects the
hands and legs becoming
difficult to lift or grasp
things.
History
CMT is one of the most common
inherited neurological disorders. It is
named after the 3 physicians who first
identified it in 1886: Jean- Martin
Charcot, Pierre Marie, and Howard
Henry Tooth. CMT, also know as
hereditary motor and sensory
neuropathy affects the peripheral
nerves.
Diagnosis/Tests
 Complete medical/ family/and
neurological test
 Test for muscle weakness in
the extremities
 One specific sign found in CMT
patients is enlarged nerves
 Nerve Biopsy
 A electrodiagnostic test which
sends electrical shock to
stimulate the sensory/ motor
nerves.
Treatment
 Physical Therapy-To
strengthen muscle
 Braces to prevent injury to
ankle or legs
 Orthopedic devices
 High top boots are shoes are
used to prevent injury and
support the ankle.
Mutations in the GDAP1 gene
X-tra Innings
 There is NO CURE for CMT, only management
for the symptoms
 Research is being done to ID the gene
mutations and proteins that cause this disease.
 Progression of symptoms is gradual
 CMT is NOT fatal and has normal life
expectancy
 Experiments in gene therapy or replacement is
being conducted
 There are test that can be done to test eggs/
References:
 http://brain.oxfordjournals.o
rg
 www.ncbi.nlm.nih.gov
 www.ninds.nih.gov ›
Disorders A - Z › CharcotMarie-Tooth Disorder