Friday, 4 May 2012

SMA (Spinal Muscular Atrophy)

Hi everyone,

Till Avery's story, If someone were to ask me what SMA was, my thoughts will probably go to a new song. 
I have never heard of SMA. So today, I decided to write a blog post about it so that we can be enlightened (And no, I am not a doctor).

SMA (Spinal Muscular Atrophy) is a genetic disease that causes muscle weakness and a progressive loss of movement. 
It causes the motor neurones (nerves that connect the brain and spinal cord to the body muscle)  in a certain area of the spinal cord to deteriorate which results in a progressive muscle wasting and loss of ability to move parts of the body. 

It affects a persons ability to move, walk and breathe but it does not not affect their mental capability.

The symptoms of the different types of SMA are outlined in more detail below.

Childhood SMA

Type 0 (develops before birth)
Type 0 SMA is a very severe form of SMA that develops before birth. It causes reduced movement of the foetus, which is usually first noticed between weeks 30 and 36 of the pregnancy.
Babies with type 0 SMA are hardly able to move and have problems breathing and swallowing.

Type I
Babies with type I SMA (known as Werdnig-Hoffmann disease) also have severe muscle weakness, which can cause problems with moving, eating, breathing and swallowing.
Symptoms may be apparent at birth or during the first few months of life. They usually occur before the baby is six months old.
The muscles of babies with type I SMA are thin and weak, which makes their limbs limp and floppy. They are usually unable to raise their head or sit without support.
Breathing problems are caused by a weakness in the baby’s chest muscles, and difficulty swallowing can be made worse by the tongue shrinking and weakness of the muscles in the throat.
Most children who have type I SMA are unlikely to live past their second birthday.

Type II
Type II SMA usually develops when an infant is 6–18 months old. Infants have less severe symptoms than those with types 0 and I, but will usually become weaker over time.
In time, infants with type II SMA will usually be able to sit, but it is unlikely that they will be able to stand or walk unaided.
Infants with type II SMA may also have the following symptoms:
  • breathing problems
  • floppy arms and legs
  • reduced or absent tendon reflexes
  • twitching of the muscles in the arms, legs or tongue
They may also develop deformities of the hands, feet and chest, and their joints may be affected by shortening of the muscles, reducing limb movement.

Type III
Type III SMA (known as Kugelberg-Welander disease) is the mildest form of childhood SMA. However, the symptoms and their severity can vary greatly.
The condition often develops later than types I and II, with a diagnosis usually only being made after the age of two.
The symptoms of type III SMA usually develop between early childhood (after one year old) and early adulthood.
Most children with type III SMA are able to stand unaided and walk, although many find walking or getting up from a sitting position difficult. They may also have:
  • balance problems
  • an abnormal way of walking
  • difficulty running or climbing steps
  • a slight tremor (shaking) of their fingers

Adult SMA

Type IV
Type IV SMA begins in adulthood. The symptoms are usually mild to moderate and start to develop after the age of 35. The symptoms usually progress very slowly.
In most cases, muscle weakness initially affects just one side of the body, before eventually progressing to both sides. Symptoms may include:
  • muscle weakness in the hands, feet and tongue
  • muscle tremor (shaking) and twitching
  • speech impairment

Kennedy’s syndrome

Kennedy's syndrome, or spinal-bulbar muscular atrophy (SBMA), is another type of adult SMA.
SBMA only affects men. It usually develops between the ages of 20 and 40, although it can sometimes affect teenage boys and those aged over 40.
The initial symptoms of Kennedy’s syndrome may include:
  • tremor (shaking) of the hands
  • muscle cramps on exertion
  • muscle twitches
  • weakness of the muscles of the limbs
As the condition progresses further, other symptoms may be experienced, including:
  • weakness of the facial and tongue muscles, which may cause difficulty swallowing (dysphagia) and slurred speech
  • recurring pneumonia (inflammation of lung tissue)

Treatment and support

For now, there is no cure for Spinal Muscular Atrophy. The management of SMA currently focuses on the symptoms and providing supportive care. 
For more information on the SMA: Click here (Know more about SMA)

Sorry for being too academic...But hopefully, it was helpful to you.

Have a pleasant day...


Always remember to keep your smile no matter what...