Is your child showing some signs that his motor skills are not
up to par with his peers? Perhaps he’s a bit uncoordinated –
tripping and falling regularly while playing with friends. Is he
walking on his toes or complaining of leg pain? While these
symptoms could be the result of a number of conditions, you may
want to ask your physician about an inherited neurological disorder
known as CMT.
Charcot-Marie-Tooth (CMT) disease, an hereditary neuropathy, is
a close cousin to the better known muscular dystrophy. It was named
for the three physicians who discovered the disease in 1886. CMT is
the most commonly inherited form of hereditary neuropathy -ða
condition where extreme muscle weakness may occur, and ultimately
can rob sufferers from normal use of their legs, feet, arms and
hands. Many people have the disease and don’t even know it.
“Although CMT is the most commonly inherited neuropathy, very
few people have heard of it, even within the medical community. It
affects more than 250,000 Americans and is the most common genetic
neuromuscular disease,” says Allison Moore, who has CMT and is the
founder of the Hereditary Neuropathy Foundation (HNF), an
organization created to expand awareness of the disease.
At what age does CMT occur? CMT can be present at any age, but
symptoms usually do not appear until adolescence or mid-adulthood.
The symptoms are quite varied between cases – some experience very
mild or completely unnoticeable symptoms, while others have
debilitating conditions. In certain cases, particular drugs used to
treat depression, cancer or even some antibiotics can trigger the
onset of more severe symptoms in an individual.
In Allison Moore’s case, a cancer diagnosis led to subsequent
treatment by physicians who were unaware that the chemotherapy
drugs they prescribed could trigger the onset of CMT. Immediately
after chemotherapy Moore experienced an impairment in her ability
to walk, and two years later was diagnosed with CMT.
What are the symptoms of CMT? Typically people who are
genetically predisposed to CMT, were overly clumsy children,
experienced frequent tripping or were slow runners. CMT can present
itself very mildly in childhood, which often makes it difficult for
doctors to diagnose it accurately. Later in life, and as the
disease progresses, a decrease in muscle bulk in the legs and feet
may result, making walking very difficult without support or
braces. In the most severe cases, a person may lose the ability to
walk and may require a wheelchair.
How do doctors diagnose CMT? A family history is a doctor’s
first step to see if anyone else in the family has CMT.
Neurological and genetic testing may be necessary to confirm and/or
diagnose CMT.
Is there a cure? There is currently no cure for CMT. However,
with proper diagnosis and treatment, those with CMT often lead
healthy, productive lives. They may undergo physical therapy,
orthopedic surgery and psychological treatment to help manage the
symptoms, and some may require braces and other orthopedic
devices.
How can I learn more? To learn the most current information
about CMT, treatment options, or to find a specialist in your area,
visit the Hereditary Neuropathy Foundation (HNF) Web site at
www.hnf-cure.org


