Information taken from
SMA Support.
SMA is a
muscular 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. Two major decisions must be made with Type I
children...whether or not to insert a feeding tube to prevent
pneumonia and prevent starvation when they have lost their ability
to suck or swallow; and 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 or "life
support", 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 weakness gets progressively worse. |