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).
