As we’ve seen time and time again on this blog, scoliosis can occur as a result of numerous other conditions – from congenital heart defects to Ehlers-Danlos syndrome, there are all kinds of different reasons why a person might have a curved spine.
Today, we’d like to talk about yet another condition that can lead to scoliosis: a rare genetic disorder called Rett syndrome.

What is Rett syndrome?

Rett syndrome (sometimes called RTT for short) is a neurological condition that affects approximately 1 out of every 12,000 girls born each year. Rett syndrome can affect boys as well, but male cases are exceedingly rare. The condition is named after Andres Rett, the Austrian doctor who first described it.
Most cases of RTT occur because of a spontaneous genetic mutation that affects the development of the brain. Rett syndrome is a postnatal disorder that usually doesn’t develop until the patient is 6 to 18 months old; after that, the condition progresses in stages as time goes by.

Symptoms of Rett syndrome

A person with Rett syndrome will exhibit different symptoms depending on what stage their condition has reached. Here’s a rough breakdown of how the condition progresses:
  • Stage 1: As mentioned above, the first stage tends to begin when the patient is 6 to 18 months old. Early symptoms include unusual or erratic hand/limb movements, difficulty feeding, and mobility problems that make it difficult for the child to crawl or walk. Babies with RTT may also take longer than average to start speaking.
  • Stage 2: Stage 2 can begin at any point between 1 and 4 years of age. At this point, the patient will often become unable to use their hands at all as the involuntary, repetitive movements (e.g. hand-wringing, clapping) become increasingly difficult to control. Additionally, the child will begin to display behaviours that are more commonly associated with autism, including periods of distress/irritability, refusal to maintain eye contact, and extreme social withdrawal. They may also have trouble sleeping and eating.
  • Stage 3: Stage 3 can start at any time between 2 and 10 years of age. At this point, most RTT patients begin to experience seizures and irregular breathing patterns; some may also be affected by arrhythmia (an irregular heartbeat) and find it difficult to put on weight. However, some symptoms do improve at this stage: patients may find it easier to walk and/or engage in social interactions with others.
  • Stage 4: Some RTT patients never get to stage 4, but those that do tend to experience stiffness and muscle weakness, which can greatly impair their ability to get around. Many patients also develop scoliosis (a sideways curvature of the spine) as the condition continues to worsen.

Treating scoliosis in Rett syndrome patients

Since there is no cure for Rett syndrome, patients tend to be treated on a symptom-by-symptom basis. Anti-epileptic medication can help RTT sufferers to manage their seizures, while beta-blockers are sometimes used to combat the arrythmia that can arise in stage 3 (see above). Hand splints can help with the hand movements that are characteristic of this condition, and speech and language therapists often work to help RTT patients with their communication difficulties.
As for scoliosis, there are a number of different approaches to this. A Rett syndrome sufferer may attend physiotherapy sessions in order to prevent their spine from becoming curved; if scoliosis does occur, a doctor may recommend that the patient wears a brace or undergoes surgery to correct the curve.
However, physiotherapy and other exercise-based treatments needn’t be seen as solely a preventative measure. Here at the Scoliosis SOS Clinic, we have helped numerous RTT sufferers to overcome the effects of scoliosis after it has begun to develop. Our ScolioGold treatment programme has proven very effective when it comes to:
  • Cobb angle reduction
  • Improving mobility
  • Reducing pain
Click here to find out more about our ScolioGold courses, or get in touch to arrange an initial consultation with our scoliosis specialists (consultations can be carried out via Skype or over the phone if necessary).
Congenital Scoliosis
 
The most common form of scoliosis is idiopathic scoliosis, which usually develops during adolescence and has no known cause (although science is gradually getting closer to solving that mystery). The vast majority of idiopathic scoliosis patients are diagnosed between the ages of 10 and 18; as a general rule, the characteristic spinal curve does not develop until the onset of puberty, when the body goes through a rapid growth spurt.
 
However, some people have a type of scoliosis that sets in far earlier – from birth, in fact. This is called congenital scoliosis.

What is congenital scoliosis?

Congenital scoliosis is a type of scoliosis that is present from birth. If a baby is born with a spine that curves to one side, they are said to have congenital scoliosis.
 
Congenital scoliosis is caused by irregular development of the bones in the spine while the baby is in the womb. In some cases, congenital scoliosis occurs because one or more vertebrae did not form properly, although a spinal curve can also arise because multiple vertebrae are joined together.

How to spot congenital scoliosis

The symptoms of congenital scoliosis are similar to the symptoms of idiopathic or any other type of scoliosis (although they may be somewhat harder to spot in an infant or small child):
  • Uneven hips and/or shoulders
  • Rib cage more prominent on one side than the other
  • The patient appears to lean to one side
  • Clothes do not fit properly
  • Numbness, loss of coordination or weakness

Is congenital scoliosis painful?

Every congenital scoliosis patient has a different experience of the condition, and that applies to children born with scoliosis just as much as it applies to those who develop the condition later on. Some scoliosis patients do experience pain, reduced mobility, and/or compromised breathing, but these symptoms are relatively uncommon, especially in their more severe forms.
 
In cases where congenital scoliosis is linked to a problem with the spinal cord / nervous system, the patient may experience reduced coordination, reduced strength, and/or a feeling of numbness. Again, though, such cases are quite rare.

Treating congenital scoliosis

Scoliosis can be treated in a number of different ways, and congenital scoliosis is no exception. If the patient is still very young, some doctors may recommend simply waiting and monitoring their condition to see whether or not the spinal curve corrects itself as the child grows. This is usually the recommended treatment for congenital scoliosis curves less than 25°.
 
If congenital scoliosis worsens over time, some doctors may recommend bracing to prevent further deterioration. The brace puts pressure on the patient’s lower back, helping to straighten the spine. This can often be uncomfortable and inconvenient, especially for children who want to be able to run around and play restriction-free. 
 
In especially severe cases of congenital scoliosis may be referred for spinal fusion surgery, but this is a major operation and surgery is not usually the preferred treatment route when the patient is a child.
 
As with other forms of the condition, congenital scoliosis can be effectively managed via exercise-based physiotherapy. We have treated many young children here at the Scoliosis SOS Clinic, and we have seen some real transformations – just visit our Results (4-14 Years Old) page to see how effective our treatment courses are when it comes to reducing spinal curves.
 
If you would like to find out more about our treatment courses and how they can benefit congenital scoliosis patients, please call Scoliosis SOS on 0207 488 4428 or click here to book an initial consultation.
If you read our recent blog post about the effects of bad posture, you’ll know how detrimental postural problems can be to a person’s overall health. Unfortunately, certain jobs / activities can put you at a particularly high risk for poor posture – for example, you are more likely to have bad posture if you:
  • Work at a desk
  • Regularly lift heavy objects
  • Play certain musical instruments (drummers are especially prone to bad posture)
  • Frequently drive for long periods
More generally, you may well develop postural problems if you tend to lean on one leg while standing, hunch over your phone while texting, and/or slouch while sitting in a chair.
The good news is that exercise can go a long way to combating the effects of poor posture. Here are three simple posture-improving exercises that are easy to perform in the comfort of your own home:

Shoulder Squeezes

This exercise is great for computer users who spend hours every day leaning over a desk.
Shoulder Squeezes
  1. Sit on a chair (try to find one without arms, as these may get in the way).
  2. Rest your hands on your thighs.
  3. Squeeze your shoulder blades together – imagine there is a pencil between your shoulder blades, and you are trying to hold it in place.
  4. While doing this stretch, keep your chin tucked in and your chest high to achieve the right position.
  5. Hold the squeeze for 5 seconds, relax, then repeat several times.

Titanic Stretch

This exercise is good for the shoulders – see if you can work out why we call it the ‘Titanic’ stretch!
Titanic stretch
  1. Find something to hold onto – we’ve used our wall bars in the photo above, but a bannister, door frame or towel rail will be fine.
  2. Stand with your back to the bars and hold onto them just above shoulder height. Place your feet together, as close to the wall as possible.
  3. Keeping your arms straight, lean forwards. You should feel a stretch in your chest and at the front of your shoulders.
  4. Hold this position for 30 seconds. Try to keep your chin tucked in.
  5. Relax and repeat 3 times.

Planking

This exercise strengthens your core muscles and targets the lower back to help improve your posture.
  1. Lie on your front.
  2. Prop yourself up on your forearms and toes, so that your whole body is raised off the floor. Try to place your shoulders right above your elbows and create a straight line from head to toe – you will need to make sure that your legs are straight and your hips raised.
  3. Hold this position for 5 seconds, relax, then repeat several times.
An easier version of this exercise involves resting on your knees instead of your toes, as shown here:
Planking for Beginners
More exercises to try at home:
Disclaimer: The above information should not be treated as medical advice, and the exercises described may not be suitable or beneficial for everyone. You should not begin any exercise routine without consulting a qualified health practitioner, particularly if you are pregnant, nursing, elderly, or if you have any chronic or recurring conditions. Any application of the exercises suggested above is at the reader’s sole discretion and risk. Scoliosis SOS accepts no responsibility or liability for any loss or injuries caused directly or indirectly through the performing of any exercises described. If you feel any discomfort or pain during exercise, stop immediately. Always consult your own GP if you are in any way concerned about your health or anything associated with it.
Muscular Atrophy
Spinal muscular atrophy, often abbreviated to SMA, is a genetic disease which impacts the nerve cells connecting the brain and spinal cord to the body’s muscles. Due to deterioration of the link between these nerves and muscles, physical activity becomes progressively difficult, as the muscles begin to weaken and shrink.
While the cause remains the same in each type of SMA, different classifications of the disease exist, according to age, symptoms and mobility of the sufferer, which are classified as follows:
  • Type I SMA – This is the most common and severe form of the disease, which manifests itself during the first six months of an infant’s life. In these cases, complications include severe muscle weakness, breathing problems and trouble swallowing. Due to the severity of type I SMA, also know as Werding-Hoffmann disease, sufferers rarely live past 2 years old.
  • Type II SMA – This form of SMA is usually detected at a later stage than type I, usually between the ages of 7-18 months, and is often identified by failings to meet expected motor milestones. While type II does cause serious mobility issues, which will require the affected individuals to use a wheelchair, the majority of sufferers will enjoy long lives, without any additional impairments.
  • Type III SMA – While this type is often diagnosed between the ages of 18 months and 3 years, it is possible that the condition will not be identified until the individual’s teenage years, depending on the extent of their ability to walk independently. As they grow, individuals with type III SMA, otherwise known as Kugelberg-Welander disease, may find that their mobility becomes increasingly limited as they age.
  • Type IV SMA – This is the most rare form of SMA, which manifests itself during adulthood, usually in individuals aged 35 or more. In these cases, the disease progresses very gradually, leading to mild motor impairment.

How is This Connected to Scoliosis?

Due to the impact of the condition on the muscles supporting the spine, almost all children with SMA will develop scoliosis. The progression of the spinal curvature depends on the severity of the SMA, and is decreased in cases where the patient is able to walk. For the most active individuals, with only a mild form of SMA , scoliosis does not have a huge impact on their mobility levels, nor does it deteriorate substantially over time.
As well as scoliosis, which refers to the sideways curvature of the spine, patients with SMA may also experience other forms of spinal curvature, such as hyperkyphosis and hyperlordosis. These refer to the forward curvature of the spine, which affects the upper area in cases of hyperkyphosis, and the lower in cases of hyperlordosis. 

Can Scoliosis SOS Help Patients With SMA?

Here at the Scoliosis SOS clinic, we have been treating scoliosis and related spinal conditions for over a decade, using a combination of proven, non-surgical methods to construct highly-specific treatment programmes for our patients. Thanks to our thorough consultation and evaluation process, we are able to provide carefully tailored advice and treatment, which is personally customised to fit the needs of each patient’s curvature and condition.
If you would like more information regarding treatment with Scoliosis SOS, and how this could help you manage the symptoms of your spinal condition, please get in touch with us today!
If you work in an office or frequently spend long periods of time driving, it’s likely that you may well have poor posture. Bad posture occurs when your spine is held in unnatural positions, putting stress on your joints, muscles and vertebrae. Slouching in your chair, hunching over your keyboard, or looking down at your mobile phone for extended periods can cause a build-up of pressure on these tissues.
 
Poor Posture
Lower back, neck, shoulder, and even arm pain can be linked to bad posture, and it can lead to even more severe, painful and visible symptoms such as hyperkyphosis – a condition where the thoracic spine (upper back) develops a forward-curved posture.
 
This condition is most commonly associated with people over 40, and it can continue to worsen with age. That said, hyperkyphosis can affect anyone at any time of life, and it is believed that 20-40% of adults will develop this condition at some point.
 
Hyperkyphosis sufferers may not recognise a change in back posture at first because the curvature is often quite gradual, but if left untreated, you may find that you are having difficulty performing normal tasks and keeping your balance. Some people will also experience upper back pain and spinal fractures as the condition advances. 
 
Hyperkyphosis can be treated by undergoing surgery, but like most surgical procedures, there are a number of risks. If you’re put off by the prospect of having surgery to treat your condition, you’ll be glad to know that we at Scoliosis SOS treat spinal conditions (including hyperkyphosis) using our non-surgical treatment method called ScolioGold
 
ScolioGold is a mixture of exercise-based techniques that are continuously monitored and developed to ensure that all aspects of the patient’s condition are fully treated. For more information on our ScolioGold treatment method, click here. If you have any questions or you wish to book a consultation, please contact our clinic today.