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SMA Information
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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.
(Information provided by www.smasupport.org) |
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