In the business of taking care of special needs, specifically for Arianna, a lot of money is spent on research in Rett Syndrome on seizures and dystonia.
Dystonia looks a lot like seizures and Rett Syndrome girls may have seizures but a lot of the findings are that they are misdiagnosed as seizures where it is in fact dystonia.
Dystonia is a neurological movement disorder in which sustained muscle contractions cause twisting and repetitive movements or abnormal postures. If you have seen some of the Rett girls you will see that their hands or legs may be twisted inward as well as wringing.
In the case of Rett girls, a lot of the muscle contractions are due to Rett Syndrome. Arianna has suffered with extreme twisting of her leg and arms and the signature wringing of the hands for Rett Syndrome indicates to me, albeit as a layperson, that Rett is closely associated with dystonia.
What are some symptoms of dystonia?
Symptoms vary according to the kind of dystonia involved. In most cases, dystonia tends to lead to abnormal posturing or movement. Many sufferers have continuous pain, cramping and relentless muscle spasms due to involuntary muscle movements. Arianna has suffered with this.
Early symptoms may include loss of precision muscle coordination (for non-Rett girls or guys, this sometimes is first manifested in declining penmanship, frequent small injuries to the hands, dropped items and a noticeable increase in dropped or chipped dishes), cramping pain with sustained use and trembling. Significant muscle pain and cramping may result from very minor exertions like holding a book and turning pages. For a lot of people, at first blush, the response is “Oh my gosh, it is a seizure!”.
It isn’t a seizure in this case.
The person suffering from dystonia may find it difficult to find a comfortable position for arms and legs with even the minor exertions associated with holding arms crossed causing significant pain similar to restless leg syndrome. Affected persons may notice trembling in the diaphragm while breathing, or the need to place hands in pockets, under legs while sitting or under pillows while sleeping to keep them still and to reduce pain. Trembling in the jaw may be felt and heard while lying down, and the constant movement to avoid pain may result in the grinding and wearing down of teeth, or symptoms similar to TMJ. Swallowing can become difficult and accompanied by painful cramping. In the case of Arianna, there is a lot of teeth grinding. For a lot of other Rett Syndr0me girls, there is teeth grinding as well. In some cases, fixing cavities helps, in most others from what I’ve read and talked with Rett parents, the grinding is always there.
What does that mean as a parent or provider for a Rett child or anybody who is suffering from seizures? If neurological tests are inconclusive for seizures, check for dystonia. It can save you money and aggravation for the person who has their muscles locking up and are in pain. The shaking and shivering looks like a seizure and it can be draining for the person so look for medicines and therapies to try and ease their pain.
Be wary that the current batch of dystonia drugs have side-effects that cause stomach and intestinal pain and cramping so be careful.
Always, always consult a doctor or a specialist.
By getting the correct diagnosis you can also save money and keep medical expenditures down. More to the point, don’t you want to end the suffering of the person that has dystonia?
If you want to help in Rett Syndrome research, you might want to order a copy of my book on Practical Money Making. Part of all proceeds from sales goes to Rett research. Check it out below. Happy Holidays!
Kim Isaac Greenblatt
What is the difference between a seizure and dystonia?