Dystonia: Symptoms, Causes & Treatment Options

Dystonia: symptoms, causes, and treatment options

Dystonia is a complex neurological disorder that causes involuntary muscle contractions, leading to repetitive movements or abnormal postures. It can affect one part of the body (focal dystonia), several adjacent parts (segmental dystonia), or all parts of the body (generalised dystonia). Dystonia not only impacts the physical aspect of an individual’s life but also their mental health and social interactions.

The exact cause of dystonia remains largely unknown, though it’s believed to involve incorrect signals from the brain that lead to involuntary muscle contractions. Some forms of dystonia are genetic, while others may result from environmental factors. 

Why is it important to understand more about Dystonia? Currently, The Brain Foundation of Australia suggests primary dystonia might affect more than 3 in every 1,000 people. This translates to potentially over 70,000 Australians. 

Moreover, dystonia can significantly impact a person’s daily life and well-being.  Understanding dystonia allows for better support for patients, their families, and caregivers.  This can include emotional support groups, practical advice on managing the condition, and advocacy for their needs.

Known Types of Dystonia

Several types of dystonia
Types of dystonia

Dystonia can affect various parts of the body, and the specific type depends on the area affected. Here’s a breakdown of the most common types:

Focal Dystonia

This affects a single muscle or small group of muscles in one body part. It’s the most frequent type, often triggered by specific actions. The most common conditions under Focal Dystonia include:

Cervical Dystonia (Spasmodic Torticollis)
A painful condition where the neck muscles contract involuntarily, causing the head to twist or turn to one side.

Symptoms typically involve abnormal head posture, mild or severe discomfort in the neck and shoulders, involuntary muscle contractions, tremors in the head or hand, and frequent headaches.

Blepharospasm
Blepharospasm is a type of focal dystonia that affects the muscles around the eyes, leading to involuntary blinking or eyelid twitching. 

Symptoms often include: 

  • Increased Blinking
  • Eyelid Spasms
  • Difficulty Keeping Eyes Open
  • Sensitivity to Light (Photophobia)
  • Eye Irritation
  • Functional Blindness
  • Facial Spasms

Oromandibular Dystonia
Oromandibular dystonia (OMD), also sometimes called cranial dystonia, is a neurological movement disorder affecting the face, jaw, and mouth.

Symptoms include:

  • Involuntary jaw movements like clenching, opening, or shifting to one side.
  • Facial grimacing or involuntary movements of the lips.
  • Tongue spasms or involuntary tongue protrusion.
  • Difficulty with speaking, chewing, and swallowing due to the abnormal movements.

Writer’s Cramp
Writer’s cramp, also known as focal hand dystonia, is a specific type of dystonia that affects the muscles in your hand and forearm. It falls under the category of focal dystonia because it only impacts a limited area of the body. 

Symptoms of writer’s cramp include:

  • Cramping or spasms in the fingers, thumb, or hand
  • Abnormal gripping of the pen or pencil
  • Wrist flexion, extension, or twisting
  • Hand fatigue or pain when writing
  • In some cases, the pen may even drop involuntarily

Musician’s Dystonia

Similar to writer’s cramp, musician’s dystonia, also known as focal task-specific dystonia, is a condition that affects musicians, causing involuntary muscle contractions in the fingers, hands, or embouchure (mouth muscles used in playing wind instruments) when playing their instrument. 

The symptoms of musician’s dystonia are similar to writer’s cramp, involving: 

  • Involuntary muscle contractions and tremors in the fingers, hands, lips, or tongue depending on the instrument played.
  • Loss of dexterity and coordination, making it difficult to play smoothly or precisely.
  • Difficulty maintaining proper posture or embouchure (positioning of the mouth on the instrument).
  • Pain or discomfort while playing in some cases.

Segmental Dystonia

Segmental dystonia is a type of dystonia affecting two or more connected body parts. It differs from focal dystonia, which only impacts a single muscle or small group in one area.

This form of dystonia can affect any combination of adjacent areas, such as the neck and arm or the face and jaw, leading to a more complex and often more disabling condition.

The symptoms of segmental dystonia are similar to those of other types of dystonia but occur in multiple connected regions. Key symptoms include:

  • Involuntary Muscle Contractions: These contractions are the primary symptom and can cause twisting, pulling, or abnormal postures in the affected body parts.
  • Repetitive Movements: Individuals may experience repetitive, jerky movements that are uncontrollable and often worsen with voluntary movement or during periods of stress.
  • Abnormal Postures: The muscle contractions can lead to sustained abnormal postures, which may be uncomfortable and interfere with normal movement and function.
  • Pain and Discomfort: The constant muscle contractions and abnormal postures can lead to significant pain and discomfort in the affected areas.
  • Functional Impairment: Depending on the body parts affected, individuals may experience difficulties with daily activities, such as walking, speaking, or performing tasks that require fine motor control.

The causes of segmental dystonia include genetic predispositions, environmental factors, neurological changes, and sometimes, brain injuries or diseases. Advanced imaging studies have uncovered broad network abnormalities in the brain, even when traditional MRI scans appear normal.

Multifocal Dystonia

The terms multifocal dystonia and segmental dystonia are sometimes used interchangeably, but there can be a subtle distinction between the two. Multifocal dystonia involves two or more unrelated body parts, such as one arm and the opposite leg. While segmental dystonia affects two or more adjacent areas.

The symptoms of multifocal dystonia can vary depending on the specific body parts affected. The main symptoms include: 

  • Involuntary muscle contractions
  • Tremors
  • Abnormal postures in two or more separate body parts (these movements are not necessarily coordinated with each other)

However, there are also additional symptoms of multifocal dystonia including: 

  • Difficulty with coordination and movement in the affected areas.
  • Pain or discomfort in some cases, particularly when the involuntary movements are forceful.
  • Speech difficulties if the orofacial muscles are involved.
  • Fatigue and difficulty performing daily activities due to the dystonic movements.

Generalised Dystonia

Generalised dystonia is a neurological movement disorder characterised by involuntary muscle contractions that affect most or all of the body. It’s the least common type of dystonia, but it can be very disabling.

Symptoms include: 

  • Involuntary muscle contractions: these can be sustained (constant) or intermittent (coming and going). They can affect any muscle group in the body, including the limbs, trunk, neck, and face.
  • Abnormal postures and twisting: the involuntary contractions can cause the body to twist into unusual positions or make repetitive movements. This can affect your posture, balance, and coordination.
  • Muscle spasms: these can be painful and make it difficult to control your movements.
  • Tremor: in some cases, generalised dystonia can also involve tremors, which are involuntary shaking movements.
  • Pain: While not everyone experiences pain, it can be a significant symptom for some people with generalised dystonia.

Treatment Options For Dystonia

Dystonia treatment options
Treatment options for dystonia

While there’s no cure for dystonia, there are various treatment options available to manage symptoms and improve quality of life. Here’s an overview of the most common approaches: 

Medication

The most common treatment option to help alleviate dystonia symptoms is the use of medications. Medications for treating dystonia target various systems in the body to manage symptoms, and their effectiveness can vary among individuals. 

Muscle Relaxants

Muscle relaxants work to treat dystonia by targeting the central nervous system to decrease the severity of muscle contractions. Muscle relaxants are typically GABA_B receptor agonists; they mimic the action of the neurotransmitter GABA, which is the principal inhibitory neurotransmitter in the brain. 

By activating GABA_B receptors, muscle relaxants inhibit the release of excitatory neurotransmitters in the spinal cord and brain, leading to a reduction in muscle spasticity and involuntary contractions associated with dystonia.

Although the use of muscle relaxants is common for patients with dystonia, there are also adverse effects that are important to know. Muscle relaxants can cause drowsiness or dizziness in some individuals. They may not be as effective for all types and severities of dystonia.

Levodopa

This medication increases dopamine levels in the brain. It’s particularly helpful for people with dopa-responsive dystonia. Levodopa is primarily effective in treating levodopa-responsive dystonia (DRD), showing significant clinical benefits. However, its efficacy varies among different types of dystonia and individual responses. 

Levodopa’s common side effects in dystonia patients include nausea, dizziness, behavioural changes, insomnia, and orthostatic hypotension. It is important to note that the use of levodopa should be prescribed by healthcare professionals as not all patients, especially those with different genetic causes of DRD, respond equally well to levodopa, and some may even require additional treatments.

Anticholinergics

Anticholinergics work by blocking the action of acetylcholine, a neurotransmitter involved in muscle movement. By inhibiting this chemical, they can help to reduce muscle tension and involuntary contractions, which are hallmarks of dystonia.

Anticholinergics have shown beneficial effects in the treatment of dystonia, particularly in children with cerebral palsy, as they can improve motor function. However, their use requires careful monitoring due to possible cognitive side effects

Botulinum toxin injections (Botox)

Botulinum toxin, widely recognised as an effective treatment for dystonia, particularly for cervical dystonia — the most common type of focal dystonia characterised by involuntary, painful head posturing — has been shown to significantly improve symptoms. This includes reductions in pain and improvements according to participants’ self-assessments. 

However, it’s important to note that treatment may also increase the likelihood of experiencing side effects such as difficulties with swallowing, tiredness, and neck weakness. 

The evidence supporting these outcomes is of moderate certainty for overall improvement and risk of undesired events, and high certainty that participants reported self-evaluated improvement and tolerated the treatment well. The Cochrane review highlights that a single session of botulinum toxin treatment can lead to a clinically relevant reduction in the specific impairment and pain associated with cervical dystonia compared with a placebo.

Physical therapy

Physiotherapy, alongside botulinum toxin injections, has been highlighted for its potential to alleviate pain in cervical dystonia patients. Studies suggest that physiotherapy may also mitigate disease severity and disability while enhancing life quality. 

Dystonia can lead to muscle stiffness and shortened tendons. Physiotherapists can use stretching techniques and exercises to improve flexibility and range of motion in the affected areas. This can help to reduce pain and discomfort associated with dystonia.

However, there are also risks associated with physical therapy in treating dystonia. These risks include muscle soreness, overexertion, and falls. 

More specific risks to dystonia treatment with physical therapy include triggering dystonic movements. Some physical therapy exercises may inadvertently trigger dystonic movements in certain cases. An experienced physiotherapist familiar with dystonia will be aware of this risk and will design a program that avoids exercises that might worsen symptoms.

Complementary Therapies 

A study on the use of medical cannabis in patients with dystonia suggests that it may be effective in treating symptoms and alleviating related pain. 

Cannabinoids, the active compounds in cannabis, may interact with the endocannabinoid system, which plays a role in regulating muscle movement. This interaction could potentially help reduce muscle spasticity.

However, medical cannabis laws and regulations vary significantly around the world. In Australia, for instance, access to medical cannabis is very restricted. To explore options to accessing medical cannabis, in Australia, it is necessary to consult with an appropriately qualified and registered healthcare professional. 

Cannabis can cause side effects like dizziness, dry mouth, and drowsiness. It’s important to discuss these potential side effects with a healthcare professional before commencing the use of medical cannabis.

The Importance Of Understanding Dystonia

Understanding dystonia is crucial for several reasons. This complex neurological disorder can significantly impact a person’s life, affecting their physical well-being, mental health, and social interactions. 

With ongoing research, our understanding of dystonia continues to evolve. Early diagnosis and a multidisciplinary treatment approach that combines medications, botulinum toxin injections, physiotherapy, and potentially complementary therapies can help manage symptoms and improve the quality of life for individuals living with dystonia.

With surgical procedures, common side effects or risks that they carry are infection, bleeding, low eye pressure, scarring, and potential loss of vision. Minimally invasive glaucoma surgeries (MIGS) tend to have fewer risks but can still cause tissue damage, bleeding, and high intraocular pressure.

Written by

Priyom holds a Ph.D. in Plant Biology and Biotechnology from the University of Madras, India. She is an active researcher and an experienced science writer. Priyom has also co-authored several original research articles that have been published in reputed peer-reviewed journals. She is also an avid reader and an amateur photographer.

Written by

Priyom holds a Ph.D. in Plant Biology and Biotechnology from the University of Madras, India. She is an active researcher and an experienced science writer. Priyom has also co-authored several original research articles that have been published in reputed peer-reviewed journals. She is also an avid reader and an amateur photographer.

Latest News

Obesity rates in Australia
IBS (irritable bowel syndrome) vs ulcerative collitis vs Crohn's disease (ir ritable bowel disease)
Understanding cachexia
Irritable bowel syndrome symptoms & treatments

Suggested Reading

Obesity rates in Australia
IBS (irritable bowel syndrome) vs ulcerative collitis vs Crohn's disease (ir ritable bowel disease)