SMA
is a neuromuscular disease passed on genetically to children
by their parents. You can not "catch" SMA by being around
someone who has it. It is a "Recessive" genetic disease,
meaning that BOTH parents must carry a copy of the recessive
SMA gene. There is only a 25% chance each pregnancy of the
child having SMA and a 75% chance each pregnancy that the
child will be healthy. One out of 40 people is a carrier of
this recessive gene. The brain is not affected, and
they have been tested to have at least average to above
average intelligence. Please do not make the
mistake of treating them as mentally impaired!! Their
bodies may not be perfect, but their minds are, so be sure
to treat them that way! SMA affects a child's muscular
development, and the severity depends on what 'type' of SMA
the child has. There are four "Types" of SMA, Type 1, 2, 3
& 4. The earlier the symptoms are noticed, the more severe
the type of SMA. Type 1 is the most severe, affecting
children while still in the womb or shortly after birth.
Type 4 is the least severe, affecting adults.
Type 1
children are diagnosed
usually before 6 months of age, more often before 3 months
of age. Symptoms may even start in the womb. Many mothers
later recall the baby not moving as much the last month or
so of pregnancy. They are not able to hold up their heads,
roll over, crawl, sit up without support, or walk. All of
their muscles are extremely weak, with the weakest muscles
being the legs, upper arms, and neck. Their chest may
appear concave, or very skinny at the top, with a big
belly. Bell-shaped. SMA affects all muscle systems as well
including sucking, swallowing, digesting food, and
excretion. Constipation is a common problem as is being
able to control excessive drooling (secretions), and getting
proper nutrition and calories for proper weight gain. A
common cold can easily turn into pneumonia which is what
usually takes the lives of these children, along with
"respiratory failure" or when they no longer have the lung
or chest muscles to be able to breathe on their own. The
major decision that must be made with Type I children is
whether or not to put them on a ventilator or other
breathing machine when they experience respiratory failure.
Current statistics show that the average lifespan of a child
with SMA Type I, not put on permanent ventilation, is only 8
months of age, with 80% dying by the age of one, and the
majority of the rest dying by age 2. HOWEVER, these
statistics are not a hard and fast rule. Each child is
affected so differently by SMA that they do not all follow
the same path or progression. Also, as more is learned
about SMA, the lifespan of a Type 1 child can be lengthened
depending on the severity of the symptoms for each
particular child. Last but not least, the line between each
Type of SMA is not clearly defined, and it is common for a
child to exhibit patterns of two types, thus confusing the
issue of "life expectancy" for that child.
Type I
children most often have very little leg movement, very
little upper arm movement. Many times their hands remain
fisted and their hands/wrists are turned the "wrong" way.
The physical characteristics that often "gives them away" to
having SMA is a bell shaped body, legs that stay in the
"frog" position, moving the arms from the elbows down only,
and the head tilted to the side because of lack of neck
muscles. They often have bright, expressive faces and eyes.
Type 2
children are diagnosed before 2 years of age, usually more
like 15 months. These children are usually able to be in a
sitting position without support, but often can not get
there by themselves. They can sometimes crawl with bracing
and therapy, and on occasion may stand with braces. Feeding
and swallowing problems are not common in Type 2 children,
though they are still possible. They will usually never
walk. The lifespan of a Type 2 child varies so widely,
there isn't one! They could pass away at an early age or
they could live well into adulthood. As with all forms of
SMA, weakness increases over time.
Type 3
children are diagnosed between 18 months of age and early
adolescence. In the beginning these children are able to
stand and walk but usually have difficulty doing so. They
typically have a normal lifespan; however, as with all forms
of SMA, weakness gets progressively worse and they usually
will be wheelchair bound.
Type 4 SMA is
an adult SMA, with symptoms beginning around age 35. They
also usually have a normal lifespan; though, as with all
forms of SMA, weakness gets progressively worse.
(Information provided by
www.smasupport.org.) |