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Elsabet H. Tekle, DDS LLC
- A Caring Dentist
Dr. Tekle and
staff focus on the total elimination of pain through the use of nitrous
oxide analgesia and painless injection techniques. We provide
conservative white fillings, smile makeover, teeth whitening, implants,
treatment for dysfunctional TMJ and gum disease. |
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Sometimes feeding and swallowing can be affected.
Involvement of respiratory muscles (muscles involved in breathing and
coughing) can lead to an increased tendency for pneumonia and other lung
problems. Sensation and the ability to feel are not affected.
Intellectual activity is normal and it is often observed that patients
with SMA are unusually bright and sociable. Patients are generally
grouped into one of four categories, based on certain key motor function
milestones.
What Causes SMA?
SMA is an autosomal recessive genetic disease. In order
for a child to be affected by SMA, both parents must be carriers of the
abnormal gene and both must pass this gene on to their child. Although
both parents are carriers the likelihood of a child inheriting the
disorder is 25%, or 1 in 4.
An individual with SMA has a missing or mutated gene (SMN1, or survival
motor neuron 1) that produces a protein in the body called Survival
Motor Neuron (SMN) protein. This protein deficiency has its most severe
affect on motor neurons. Motor neurons are nerve cells in the spinal
cord which send out nerve fibers to muscles throughout the body. Since
SMN protein is critical to the survival and health of motor neurons,
without this protein nerve cells may atrophy, shrink and eventually die,
resulting in muscle weakness.
As a child with SMA grows their bodies are doubly stressed, first by the
decrease in motor neurons and then by the increased demands on the nerve
and muscle cells as their bodies grow larger. The resulting muscle
atrophy can cause weakness and bone and spinal deformities that may lead
to further loss of function, as well as additional compromise of the
respiratory (breathing) system.
There are four types of SMA, SMA Type I, II, III, IV. The determination
of the type of SMA is based upon the physical milestones achieved. It is
important to note that the course of the disease may be different for
each child.
Patients with SMA typically lose function over time. Loss of function
can occur rapidly in the context of a growth spurt or illness, or much
more gradually. The explanation for this loss is unclear based on recent
research. It has been observed that patients with SMA may often be very
stable in terms of their functional abilities for prolonged periods of
time, often years, although the almost universal tendency is for
continued loss of function as they age.
Prognosis ... What Does it Mean?
What Are We to Expect?
Researchers have identified the SMN1 gene as the primary
manufacturer of the SMN Protein. It is the absence/defect of this SMN1
gene that causes Spinal Muscular Atrophy. However, there is another form
of this gene called SMN2. The SMN2 gene is similar to SMN1, but does not
produce as much protein, or the right kind of protein, as the SMN1 gene.
One determination of prognosis is the number of copies of the SMN2 gene.
The greater the number of SMN2 copies, the more SMN protein is produced
and the greater likelihood that more motor neurons remain healthy and
productive. Individuals with only 1 or 2 copies of the SMN2 gene will
typically have the most severe expressions of SMA. Three or more copies
of the SMN2 gene will typically mean a less severe expression.
Each type of SMA has variability among individual patients. Please keep
this in mind when considering an individual’s care.
Raising a child with SMA should be no different than raising a child who
is not affected. Do as many things as possible that are age appropriate.
Many times this means making adaptations. It is very important that
children with SMA are assisted in reaching their utmost potential.
It is important to understand that parents and patients have rights and
that you are not alone. Most hospitals have social service departments
that can give you a shoulder to lean on. Don't be afraid to say NO if
something doesn't seem right. Don't be intimidated or afraid to ask
questions. If you forget to ask something, call your doctor or contact
Families of SMA for suggestions. In this context, it is also important
that your child be followed by a physician who is familiar with SMA and
its complications.
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