Home > Causes of Back Pain > What is Spinal Muscular Atrophy?

What is Spinal Muscular Atrophy?

By: Kathryn Senior PhD - Updated: 18 Sep 2012 | comments*Discuss
 
Spinal Muscular Atrophy Genetic Disease

Spinal muscular atrophy is a rare genetic disease that affects the motor neurons, the specialised nerve cells that connect with muscle cells to bring about movement. It causes the muscles to become very weak and in its most severe form causes early death in babies born with the condition. In other people, its effects are relatively mild and it is only diagnosed in adults. The muscles that support the spine are affected, so it can have progressive effects on the spine in later life, causing stiffness, back pain and lack of mobility.

Diagnosis is made by a genetic test that looks for specific mutations in the SMN gene. Only very rarely is spinal muscular atrophy diagnosed if there is no detectable abnormality in this gene; in these cases, specialists make the diagnosis by looking at muscle biopsies.

Effects on the Spine

The nerves that are associated with the spinal cord are particularly badly affected and there is no link between the muscles attached the spinal cord and the brain, so the person develops stiffness and difficulty moving. Speech can also be affected as the muscles that operate the jaw and mouth cannot get the signals they need from the brain to work properly. In the mildest type of the disease, the affected person can find it increasingly difficult to walk and the balance is also affected, making falls and injuries a real danger.

Many children and adults even with the mild form of the disease tend to develop curvature of the spine – a condition known medically as scoliosis. As the spine curves more, this may affect the muscles in the chest and breathing can become difficult.

Children with Spinal Muscular Atrophy

Children with the mild form of the disease can go to school and mix with other children but it is important for a child to do regular exercises, as given by a specialised physiotherapist, to minimise the effect of the muscular weakness as much as possible. Most physiotherapists are keen to encourage children to do a lot of swimming as this strengthens the muscles without risking injury in falls, and supports the body as the child is exercising.

Support for Adults with Spinal Muscular Atrophy

Adults who have spinal muscular atrophy do not have any mental impairment and can lead full and active lives if they get adequate support. If their mobility becomes affected, using motorised wheelchairs, computers to communicate and interact with others and splints and supports for their skeleton can help.

Research is Ongoing

Motor neuron diseases of various types are the subject of intense research programs. It is possible now for parents who know they are carriers of the genetic mutation that causes spinal muscular atrophy to have a genetic test done on an unborn child at about the 11th week of pregnancy. As the disease can be exceptionally severe and, if not fatal, produce profound disabilities, genetic counselling is important to enable parents to come to a decision about whether to go ahead with the pregnancy.

Very recent research at Sheffield University in the UK has been looking at whether it will one day be possible to treat spinal muscular atrophy using a single gene replacement technique. At this point, the research is still being carried out in mice and has not yet reached the stage of human clinical trials. It is still creating a lot of excitement as, if it works, it will mean an effective treatment for SMA that can be given by a single injection.

You might also like...
Share Your Story, Join the Discussion or Seek Advice..
Why not be the first to leave a comment for discussion, ask for advice or share your story...

If you'd like to ask a question one of our experts (workload permitting) or a helpful reader hopefully can help you... We also love comments and interesting stories

Title:
(never shown)
Firstname:
(never shown)
Surname:
(never shown)
Email:
(never shown)
Nickname:
(shown)
Comment:
Validate:
Enter word:
Topics
Latest Comments
  • rAY
    Re: Dehydrated Discs
    hI THERE, I have Dyhydration L3/l4 and ll4/l5 and disprotrusion and sequestrated discu after MRI i am aged 52. I had hip pain all night for 3…
    3 April 2019
  • UKez
    Re: A Spinal Tap Caused My Back Pain
    Hi . I also had a spinal Tap to check the stages of a bleeiding in my brain. This has caused me serious back pain almost…
    3 July 2018
  • BackPainExpert
    Re: Dehydrated Discs
    Alex - Your Question:I am a 27 yr old male who up until last year was working 84-108 hrs/week and always had back problems but all the doctors I…
    23 May 2018
  • Alex
    Re: Dehydrated Discs
    I am a 27 yr old male who up until last year was working 84-108 hrs/week and always had back problems but all the doctors i had seen told me its…
    16 May 2018
  • Salsybar
    Re: Stem Cell Repair and Back Problems
    Hi I have annulus bulges at c4 -c5- c6 I have disc dessication,bulges , minmally prominent of the spinal cord t6-t7 t7-t8…
    9 May 2018
  • malky
    Re: Back Pain: Information for Employers
    I've enjoyed reading all your stuff and hope the stem cell injections come on to the market soon as I've been off work 5…
    8 May 2018
  • Jeeva
    Re: Spinal Dislocation
    My friend have pain in lumbar region. It cause breathing effects during sleeping.in MRI scan it shows that there is a dislocation in lumbar region
    17 April 2018
  • Agsmith78
    Re: A Spinal Tap Caused My Back Pain
    I had a spinal tap 3 years ago and still suffering from back, hip and left leg pain along with occasional weakness. Nothing…
    5 April 2018
  • Rubi
    Re: Stem Cell Repair and Back Problems
    What are the 2 basic functions of the spine?
    24 March 2018
  • Kumar
    Re: Dehydrated Discs
    What is the surgical procedure of disc dehydration
    9 March 2018