University of Information and Communications Technology

Biomedical Informatics college

Bioinformatics Department

Spinal Muscular Atrophy (SMA)

Prepare By Hiba Kasim abdulhadi Supe

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 Content

Topics Page number

Introduction of SMA 3

symptoms 4

Causes 5

How Diagnosed 6

How inherited 7

How Treated 8-9

types of SMA: 10-11-12

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 Spinal Muscular Atrophy (SMA)

Spinal muscular atrophy (SMA) is an inherited disease

that affecting the central nervous system, peripheral
nervous system, and voluntary muscle movement
(skeletal muscle)
,causing muscles to become increasingly weak. It mostly
affects infants and children but can also develop in
adults. Symptoms and prognosis vary depending on
SMA type.
Gene replacement and disease-modifying therapies offer
hope.
Most of the nerve cells that control muscles are
located in the spinal cord, which accounts for the
word spinal in the name of the disease. SMA is
muscular because its primary effect is on muscles,
which don’t receive signals from these nerve cells.
Atrophy is the medical term for getting smaller, which is
what generally happens to muscles when they’re not
stimulated by nerve cells.
SMA is the most common genetic cause of mortality in
infants.

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What are the symptoms of spinal muscular
atrophy?

 muscle weakness and decreased muscle tone.

 limited mobility.
 breathing problems.
 problems eating and swallowing.
 delayed gross motor skills.
 spontaneous tongue movements.
 scoliosis (curvature of the spine)

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 What Causes SMA?

Most kinds of SMA are caused by a problem with a

gene called the SMN1 gene. The gene does not make
enough of a protein needed for the motor neurons to
work normally. The motor neurons break down and
can't send signals to the muscles.

A child with SMA gets one copy of the SMN1 gene

from each parent. A child who gets the SMN1 gene
from only one parent probably won't show any signs
of SMA, but could pass the gene to his or her kids.

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 How Is SMA Diagnosed?
When they think a child might have SMA, doctors may
order:

*genetic testing: This is the most common way to test

for SMA. Testing checks for a deletion or variation in the
SMN1 gene.
*a muscle biopsy: This is when doctors take a small
sample of muscle to check under a microscope.

Location of neurons affected by spinal

muscular atrophy in the spinal cord

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 How SMA is inherited

In most cases, a child can only be born with SMA if

both of their parents have a faulty gene that causes
the condition.

The parents will not usually have SMA themselves,

which is known as being a carrier. Around 1 in every
40 to 60 people is a carrier of the main faulty gene
that causes SMA.

If 2 parents who are carriers have a baby,

there's a: 1 in 4 (25%) chance their child
will have SMA

1 in 2 (50%) chance their child will be a carrier of

the faulty gene, but will not have SMA

1 in 4 (25%) chance their child will not have SMA and

will not be a carrier
Some rarer types of SMA are inherited in a slightly
different
way, or may not be passed on at all.
Approximately 10,000 to 25,000 children and adults
are living with SMA in the United States. It’s a rare
disease that affects one out of 6,000 to 10,000
children.

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 How Is SMA Treated?
Although there's no cure for SMA, these treatments can
help kids who have it:
Nusinersen (or Spinraza™), a new treatment for SMA
that was approved in 2016. This medicine increases the
amount of protein the body needs from the missing
SMN1 gene. It works by making the "back-up" gene, the
SMN2 gene, look more like the SMN1 gene and
produce the needed protein. This is given through a
spinal tap. Four doses are given over 2 months, and
then every 4 months after that. Studies have shown
significant improvement in breathing, motor
function, and survival.
gene therapy trials. These are ongoing and have
shown promising results in improving overall function
in SMA.
breathing support through a mask/mouthpiece or a
breathing machine. If a breathing machine is needed, a
tube may be placed into the windpipe (called a
tracheostomy).
treatments to help kids cough and clear mucus,
which can help prevent infections
proper nutrition. Sometimes a feeding tube is place
through the nose into the stomach (an NG tube) or
directly into the stomach (called a gastrostomy tube, or
G-tube). This way, feedings can go right into the
stomach.
medicine
a splint, brace, or sometimes surgery for
scoliosis physical therapy and occupational
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therapy counseling and support groups

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Or by

Feeding and diet help

It's important for people with SMA, especially children, to
get the right nutrients. This will help with healthy growth
and development.
Several types of tube can be used, such as a tube
attached directly to the stomach through the skin of the
tummy (gastrostomy tube), or a tube passed through the
nose and down the throat (nasogastric tube).

Breathing help
There are several treatments for the breathing
problems that can affect people with SMA.
These include:
 breathing exercises to strengthen the breathing
muscles and make coughing easier
 a suction machine to help clear the throat if
needed – this involves passing a thin, plastic tube
to the back of the throat to suck away any mucus
 in more severe cases, a machine that provides air
through a mask or tube
Exercises and stretches
Exercises and stretches can help maintain strength
and stop joints becoming stiff.
A physiotherapy can suggest some exercises to try.
The amount of exercise you or your child can do will
depend on your condition, but it's best to try to stay as
active as possible.

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 There are four types of SMA:

Type 1 is the most common and severe form

of SMA. It’s sometimes called Werdnig-
Hoffmann disease or infantile-onset SMA.
Children with type 1 have limited movement,
can’t sit without support, and have trouble
breathing, feeding, and swallowing.
Symptoms begin at birth or within the first six
months of life. Many children with type 1 do
not live past age 2.

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 Type 2 is an intermediate form of SMA.
Children with this type may sit without
support at some point but cannot walk on
their own. Symptoms typically start between
6 and 18 months of age. Depending on the
severity of symptoms, children with type 2
may have a normal life span.

 Type 3 is a milder form of SMA. It’s also

known as Kugelberg-Welander disease and
resemble . muscular dystrophy While children
with type 3 usually are able to walk, most have
some difficulty walking. Some may eventually
need to use a wheelchair. Symptoms usually
appear around 18 months of age or in early
childhood. Children with this type of SMA
generally have an almost normal life
expectancy.

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  Type 4 is very rare. It usually starts in young
adulthood, and causes mild motor
impairment.

Spinal muscular atrophy has an autosomal

recessive pattern of inheritance