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MUSCULAR CONDITION

What is spinal muscular atrophy, what are the signs and symptoms of SMA and how common is the genetic condition?

Spinal muscular atrophy is a disease which takes away a persons strength and it causes problems by disrupting the motor nerve cells in the spinal cord

COLLECT PICTURE OF Baby Rimari 6 weeks old. See News Team story NTIBABY; Parents of a terminally ill baby who were told their son has just one year to live have been forced into a High Court battle with doctors to keep him alive. Frank Musselwhite, 39, and Danielle Manuel, 22, were devastated when little Rimari was born with severe spinal muscular atrophy (SMA) on April 10. The cruel condition is caused by deterioration in the nerve cells connecting the brain and spinal cord to the body's muscles. Rimari cannot breathe or swallow unaided, requires 24-hour care and a ventilator, and his parents say they were told he is unlikely to see his first birthday. But an American expert has claimed UK doctors don't understand the condition and little Rimari could in fact live well into his 20s.

SPINAL muscular atrophy is a condition which makes muscles weak and causes problems with movement.

But what is it, what are the symptoms and how common is the condition?

 SMA can have a devastating impact on lives
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SMA can have a devastating impact on livesCredit: SWNS

What is spinal muscular atrophy?

Spinal muscular atrophy is a disease which takes away a persons strength and it causes problems by disrupting the motor nerve cells in the spinal cord.

This causes an individual to lose the ability to walk, eat and breathe.

There are four types of SMA – which are based on age.

  • Type 1 is diagnosed within the first six months of life and is usually fatal.
  • Type 2 is diagnosed after six months of age.
  • Type 3 is diagnosed after 18 months of ages and may require the individual to use a wheelchair.
  • Type 4 is the rarest form of SMA and usually only surfaces in adulthood.
 Spinal muscular atrophy is a serious medical condition
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Spinal muscular atrophy is a serious medical conditionCredit: SWNS

What are the symptoms of spinal muscular atrophy?

The symptoms of SMA will depend on which type of the condition you have.

But the following are the most common symptoms:

• Floppy or weak arms and legs

• Movement problems – such as difficulty sitting up, crawling or walking

• Twitching or shaking muscles

• Bone and joint problems – such as an unusually curved spine

• Swallowing problems

• Breathing difficulties

However SMA does not affect a person’s intelligence and it does not cause learning disabilities.

How common is spinal muscular atrophy?

Majority of the time a child can only be born with the condition if both of their parents have a fault gene which causes SMA.

Usually the parent would not have the condition themselves – they would only act as a carrier.

Statistics show around 1 in every 40 to 60 people is a carrier of the gene which can cause SMA.

If two parents carry the faulty gene there is a 1 in 4 (25%) chance there child will get Spinal muscular atrophy.

It affects around 1 in 11,000 babies.

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