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Torsion Dystonia – Definition, Symptoms and Treatment

Sandeep Dhanyamraju MD
Medically reviewed by Sandeep Dhanyamraju
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Sandeep Dhanyamraju MD
Medically reviewed by Sandeep Dhanyamraju

The human body is one of the most developed and strong organisms on the planet. But, like any other organism, human systems can fail. This leads to the development of diseases. One of the serious diseases is torsion dystonia. This disease often causes human muscles to contract unnaturally. In this case, a person experiences discomfort, pain, and spasms. And the body at this moment can take unnatural poses. And a person’s social life can be disrupted due to visual unattractiveness.

Often you can detect this disease by the first signs. That is why seeking professional help at the earliest stages of symptoms is important.

In our article, we will tell you everything about the condition. We will tell you about the symptoms of the disease, the causes, and torsion dystonia treatment options. Read our article to the end to be aware of neurological diseases and be able to detect them in time.

What Is Torsion Dystonia?

It is a neurological movement disorder. It’s characterized by involuntary muscle contractions causing twisting and repetitive movements. The condition can affect one part of the body or many parts. And it’s classified into several types based on the location and severity of the symptoms.

Torsion dystonia is a rare condition, affecting about 1 in 30,000 people worldwide. It can occur at any age, but onset typically occurs in childhood or early adulthood. The condition is prevalent in Ashkenazi Jews, with a carrier frequency of 1 in 30 individuals.

Idiopathic torsion dystonia is a debilitating condition that can significantly impact daily life. Early recognition of the signs and symptoms is important.

The condition appears due to a combination of genetic and environmental factors. And a family history of the condition is the strongest risk factor. Torsion dystonia is a chronic and progressive condition. But medication, physical therapy, and surgery can help.


The condition is usually classified into several different types. Each has unique features and characteristics:

  • Generalized Torsion Dystonia. This is the most severe form of the condition, affecting the entire body. The symptoms usually start in childhood or adolescence and progressively worsen over time. A mutation in the DYT1 gene causes it, and it’s inherited in an autosomal dominant manner.
  • Focal Torsion Dystonia. It’s limited to one body area, such as the neck, face, or limbs. The most common form is cervical dystonia. It affects the neck muscles, involuntarily causing the head to turn or tilt. The condition can occur due to trauma, infection, or medication. But in most cases, the cause is unknown.
  • Segmental Torsion Dystonia. It affects two or more adjacent body parts, such as the arm and leg or the neck and face. The symptoms usually start in childhood or adolescence. And they can appear due to a mutation in the DYT1 gene or other genes.
  • Paroxysmal Torsion Dystonia. Sudden and brief episodes of muscle contractions characterize it. They can last for seconds to minutes. The episodes are usually triggered by stress or fatigue and can occur at any age. The cause is unknown, but it’s related to dysfunction in the basal ganglia.
  • Myoclonus Dystonia. It’s characterized by involuntary muscle contractions and sudden jerking movements. It usually affects the arms and neck and can be caused by a mutation in the SGCE gene.
  • Dopamine-Responsive Dystonia. This type of idiopathic torsion dystonia appears due to a dopamine deficiency in the brain. And you can treat it with medications that increase dopamine levels. It usually affects children and adolescents. And it’s characterized by sudden and involuntary muscle contractions.

What Causes Torsion Dystonia?

The exact cause of genetic torsion dystonia is not fully understood. But research suggests that it’s related to dysfunction in the basal ganglia. It’s a group of structures in the brain that control movement.

Genetic mutations are a significant cause of torsion dystonia. The most common genetic mutation is the DYT1 gene mutation. It handles generalized abnormal posturing. This mutation affects a protein called torsinA. It’s involved in the regulation of cellular processes in the brain. The mutation results in the abnormal function of the protein. It leads to the development of genetic torsion dystonia.

Other genetic mutations include those affecting the SGCE and THAP1 genes. They’re associated with myoclonus condition and DYT6, respectively.

Environmental factors may also play a role in the development of abnormal posturing. For example, trauma to the head or neck, infection, or medication side effects can trigger the onset of focal or segmental abnormal posturing. In some cases, exposure to toxins can also cause idiopathic torsion dystonia. Those toxins are carbon monoxide or manganese.

It’s also suggested that the gut-brain connection may be involved in the development. Abnormalities in the gut microbiome also lead to the development of movement disorders. The gut microbiome has been shown to influence the function of the basal ganglia. It is a key area involved in the development of abnormal posturing.

symptomatic torsion dystonia

Symptomatic of Torsion Dystonia

Here is a list of common symptoms of condition:

  • Involuntary muscle contractions.
  • Twisting and repetitive movements.
  • Slow or fast movements.
  • Pain or discomfort in affected areas.
  • Difficulty with daily activities such as walking, standing, and eating.
  • Head turning or tilting in cervical idiopathic torsion dystonia.
  • Abnormal postures in affected body parts.
  • Speech difficulties due to muscle spasms in the face or throat.
  • Eye problems such as uncontrollable blinking or involuntary eye movements.
  • Fatigue and weakness in affected muscles.
  • Social stigma is due to the visible nature of the symptoms.
  • Impaired fine motor skills in affected body parts.
  • Depression and anxiety due to the impact on daily life.
  • Sleep disturbances due to muscle spasms and pain.
  • Difficulty with writing or other activities requiring precise movements.

It is vital to note that the symptomatic of torsion dystonia can vary widely. They depend on the type and severity of the condition. It is important to seek medical attention for proper diagnosis and treatment. Early intervention can improve the outcome and quality of life.

Torsion Dystonia Treatment 

The common treatment options for torsion dystonia are:

  1. Botulinum toxin injections. This is the most common treatment for focal types, such as cervical one. It involves injecting the toxin into the affected muscles. It’s to weaken them and reduce involuntary contractions.
  2. Medications. Anticholinergics and dopaminergic drugs can be effective in treating some forms of idiopathic torsion dystonia.
  3. Deep brain stimulation (DBS). This involves the implantation of a device in the brain. It delivers electrical impulses. It’s too specific areas of the brain to control abnormal movements.
  4. Physical therapy. Stretching, strengthening, and other exercises can help improve muscle function and reduce symptomatic of torsion dystonia.
  5. Occupational therapy. This focuses on improving the ability to perform daily activities. They are writing, dressing, and eating.
  6. Speech therapy. This can be useful for addressing speech difficulties caused by abnormal posturing.
  7. Surgery. In severe cases, surgery may be an option. It removes the affected muscles or nerves. Or it’s to cut the nerve pathways that are causing the involuntary movements.
  8. Alternative therapies. Some individuals may find relief from symptomatic of torsion dystonia through acupuncture or chiropractic care.


As a result, abnormal posturing is a complex disease. It can lead to unforeseen consequences. That is why it is important to pay attention to the primary symptoms of the disease. Only in this way will you be able to detect your condition in time. And proper diagnosis and torsion dystonia treatment can have a positive effect. This way, you can improve your condition.

Be sure to seek medical help when the first symptoms of the disease appear. To do this, you can use our trusted healthcare provider. Our staff consists of experienced doctors with more than 10 years of practice.


  • How rare is torsion dystonia?

Torsion dystonia is a rare neurological disorder. The prevalence of the disorder is estimated to be 1 in 30,000 individuals worldwide. But the exact incidence of torsion dystonia is difficult to determine. It’s because many cases may go undiagnosed or misdiagnosed.

  • What are the three types of dystonia?

There are three main types of dystonia:

  1. Focal dystonia. It affects one specific body part or muscle group.
  2. Segmental dystonia. It affects two or more adjacent body parts or muscle groups.
  3. Generalized dystonia. It affects many body parts and muscles. It often starts in the legs and spreads to other body parts.
  • What is the treatment for torsion dystonia?

There is no cure for torsion dystonia. But several treatment options can help manage symptoms. The primary treatment for torsion dystonia is botulinum toxin injections. It can help reduce muscle spasms. Oral medications such as anticholinergics, benzodiazepines, or dopamine-depleting agents may also help. Physical therapy, occupational therapy, and speech therapy can also be helpful.

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Edward Medina
Edward Medina
15:34 30 Jun 22
Just such an amazing staff that makes you feel like part of their family. I’ve been going there for over 5 years now... and each visit I get the very best care and treatments that I have ever received in the 20+ years that I’ve been dealing with severe debilitating migraines. Since i started seeing them the number of my migraines has dropped from 15-20 a month to 2-3 every 3 month. I highly recommend them …they will change your life!read more
Daneisha Johnson
Daneisha Johnson
22:20 19 May 22
Dr. Askari was very kind and explained everything so I could understand. The other staff were nice as well. I would... have gave 5 stars but I was a little taken aback when I checked in and had to pay 600.00 upfront. I think that should have been discussed in a appointment confirmation call or email just so I could have been more
Jean Cooper
Jean Cooper
16:54 29 Apr 22
I love the office staff they are friendly and very helpful. Dr. JODIE is very caring and understanding to your needs... and wants to help you. I will go back. would recommend Dr. Dr. Jodie to other Patients in a heart beat. The team works well more
Linda M
Linda M
19:40 02 Apr 22
I was obviously stressed, needing to see a neurologist. The staff was so patient and Dr. Ansari was so kind. At one... point he told me to relax, we have time, when I was relaying my history of my condition. That helped ease my stress. I have seen 3 other neurologists and he was the only one who performed any assessment tests on my cognitive and physical skills. At one point I couldn't complete two assessments and got upset and cried. I was told, it's OK. That's why you're here. I was truly impressed, and super pleased with the whole experience!read more
Leslie Durham
Leslie Durham
15:05 01 Apr 22
I've been coming here for about 5 years. The staff are ALWAYS friendly and knowledgeable. The Doctors are the absolute... best!! Jodie Moore is always in such a great mood which is a plus when you are already stressed. Highly recommendedread more
Monica Del Bosque
Monica Del Bosque
14:13 25 Mar 22
Since my first post my thoughts have changed here. It's unfortunate. My doctor and PA were great, but the office staff... is horrible. They never call you back when they say they will, they misinform you, they cause you too much stress wondering what's going on, they don't keep you posted. They never answer the phone. At this point I've left four messages in the last week, and I have sent three messages. Twice from their portal and one direct email. No response. My appointment is on Monday morning at 8:30am, no confirmation on my insurance and what's going on. What the heck is going on, this is ridiculous!I've given up... the stress her office staff has put me through is just not worth it. You can do so much better, please clean house, either change out your office staff, or find a way for them to be more efficient please. You have to do something. This is not how you want to run your practice. It leaves a very bad impression on your more
Ron Buckholz
Ron Buckholz
23:32 23 Mar 22
I was actually pleasantly surprised with this visit! It took me a long time to get the appointment scheduled because no... one answers your phones EVER! After a month, I finally got in, and your staff was warm, friendly, and I was totally impressed! I feel like you will take care of my needs!read more
Steve Nabavi
Steve Nabavi
16:28 16 Mar 22
It was a nice visit. Happy staff doing all they can do to comfort the patients in a very calming environment. You ask... me they are earned a big gold star on the fridge. My only complaint they didn't give me any more
Katie Lewis
Katie Lewis
16:10 10 Feb 22
Had very positive appointments with Jodie and Dr. Sheth for my migraine care. Jodie was so fast with the injections and... has so much valuable info. I started to feel light headed during checkout and the staff was SO helpful—giving me a chair, water, and taking me into a private room until I felt better. Highly recommend this practice for migraine patients, they know what they’re doing!!read more
Joshua Martinez
Joshua Martinez
16:02 10 Dec 21
I was scheduled to be checked and just want to say that the staff was fantastic. They were kind and helpful. I was... asked many questions related to what was going on and not once did I feel as though I was being brushed off. The front desk staff was especially great in assisting me. I'm scheduled to go back for a mri and am glad that I'll be going more
Isabel Ivy
Isabel Ivy
21:42 03 Nov 21
I had such a good experience with Lone Star Neurology, Brent my MRI Tech was so awesome and made sure I was very... comfortable during the appointment. He gave me ear plugs, a pillow, leg support and blanket, easiest MRI ever lol 🤣 My 72 hour EEG nurse Amanda was also so awesome. She made sure I was take care of over the 3 days and took her time with the electrodes to make sure it was comfortable for me! Paige was also a huge help in answering all my questions when it came to my test results, and letting me know her honest opinions about how I should go forth with my more
Leslie Luce
Leslie Luce
17:37 20 Oct 21
The professionalism and want to help attitude of this office was present from the moment I contacted them. The follow... up and follow through as well as their willingness to find a way to schedule my dad was above and beyond. We visited two offices in the same day with the same experience. I am appreciative of this—we spend a lot of time with doctors and this was top notch start to more
robert Parker
robert Parker
16:38 16 Apr 21
I love going to this office. The staff is friendly and helpful. The doctor is great. I am getting the best... neurological tests and treatment I have ever had. The only reason I did not give them a 5 star rating is because it is impossible to reach a live person at the office to reschedule appointments. Every time I have tried to get through to the office it says all people are busy and I am sent to a voicemail. If they could get their phone answering fixed, I would give them a strong 5 more
MaryAnn Hornbaker
MaryAnn Hornbaker
00:26 25 Feb 21
Dr. Harney is an excellent Dr. I found him friendly , personable and thorough. I evidently am an unusual case. ... Therefore he spent a Hugh amount of time educating me. He even gave me literature to further explain my condition and how to follow up. This is something you rarely get from your doctors. So I am more than please with my doctor and his more
Roger Arguello
Roger Arguello
03:05 29 Jan 21
Always courteous, professional. The staff is very friendly and always work with you to find the best appointment time.... The care team has been great. Always taking the time to listen to your concerns and to find the best more
Margaret Rowland
Margaret Rowland
01:12 27 Jan 21
I have been a patient at Lone Star Neurology for several years. Now both my adult daughters also are patients there. I... love Jodie. She is always so prompt whether it is a teleamed call are a visit in the office. She takes the time to explain everything to me and answers all my questions. I am so blessed to have Jodie as my more
Susan Miller
Susan Miller
03:01 13 Jan 21
My husband had an accident 5 years ago and Lone Star Neurology has been such a blessing to us with my husbands care.... Jodie Moore is his provider and she is amazing! Jodie is very knowledgeable, caring, and thorough. She takes her time with you, making sure your needs are met and she is happy to answer any questions you may have. Lone Star Neurology’s patients are very lucky to have Jodie providing their care. Thank you Lone Star Neurology and especially Jodie for everything you have done for us. Jodie, you are the best!read more
Windalyn C
Windalyn C
01:32 09 Jan 21
Jodie is wonderful. She is very caring and knowledgeable. I have been to over a dozen neurologists, and none were able... to help me as much as they have here. Thanks!read more
Katie Kordel
Katie Kordel
00:40 09 Jan 21
Jodi Moore, nurse practitioner, is amazing. I have suffered from frequent, debilitating headaches for almost 20 years.... She has provided the best proactive and responsive care I have ever received. My quality of life has been greatly improved by her caring approach and tenacity in finding more
Ellie Natsis
Ellie Natsis
15:41 07 Jan 21
I have had the best experience at this neurologist's office! For over a year I have been receiving iv treatments here... each month and my nurse, Bobbie is beyond wonderful!! She's so attentive, knowledgeable, caring, and detail oriented. She makes an otherwise uncomfortable experience much more pleasant and definitely puts me at ease! She also helps me with my insurance,ordering this specialty medication and dealing with the ordering process which is no easy feat.Needless to say, she goes above a beyond in every way and I'm so grateful to this office and to Bobbie for all they do for me!read more
Matt Morris
Matt Morris
15:39 07 Jan 21
Let me start by saying that I have been coming here for years. Due to my autoimmune disease, I am in this office... once every three weeks for multiple hours at a time. The office is very clean and the staff very friendly. My only complaint would be there communication via phone. They aren't the best at responding if you leave a voicemail and expect a call back. I understand that this is prob just due to the sheer number of alls they receive daily. What I can say I like the best about the office are the people. Bobby who handles my infusions is great. I never have any issues with her setting up my infusions. She is very quick to reply to messages sent via text and if she were to leave then my whole opinion of the office may change. I also enjoy people like Matt, Lauren, and Jodi. I appreciate all that they do for me and without this team I'm not sure I would be as happy as I am to visit the office as frequently as I have to. Please ensure that these folks are recognized as they are what makes my visit to this office so tolerable :).read more
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