Understanding Dystonia Disorder: Causes, Symptoms, and Treatment

Neuro Sciences | by Dr. Kallol Kr. Dey | Published on 15/12/2023

Introduction

Do you experience tremors or rhythmic shaking often? If yes, it can indicate dystonia disorder. It is a neurological condition affecting muscle movements. Several body parts are affected by dystonia, resulting in several symptoms and functional restrictions. Dystonia is an intricate disorder that is often misidentified, making diagnosis, treatment, and complete management extremely complex for patients and healthcare professionals. If you suspect the symptoms of dystonia disorder frequently, you must book your appointment with the highly talented healthcare experts at The Calcutta Medical Research Institute in Kolkata, one of the best multispeciality hospitals. 

In this blog, we will dive deeply into the complexities of dystonia, and identify its several demonstrations, probable causes, and effects on the people who are experiencing the condition. However, kindly note that this blog post is for informative purposes only and we don’t encourage overlooking the doctor’s consultation in any way. 

What is Dystonia?

Dystonia disorder is a neurological condition determined by frantically strong muscle contractions leading to prolonged or repetitive motions including strange postures. The brain area responsible for regulating movement, the basal ganglia, is dysfunctional in this condition. The body can experience tremors, twisting motions, and abnormal positioning because of involuntary muscle contractions.

The variety of ways dystonia presents itself is one of its distinguishing characteristics. The condition may appear as focal forms that affect a single body part such as the hand, face, or neck, or affects several areas at once. Another form of the disorder is known as generalized dystonia affecting large areas of the body. Dystonia can begin at any age and develop in different ways.

What are Dystonia Symptoms?

The severity of dystonia and particular manifestations differ hugely among the patients. Here are some of the common dystonia symptoms: 

• Involuntary Muscle Contractions: One of the main dystonia symptoms is the involuntary, prolonged, or sporadic contraction of muscles. These contractions often result in jerky, twisting, or writhing repetitive motions.
• Abnormal Postures: People experiencing dystonia exhibit unusual body parts positions or postures. It involves head tilt or turn, hand curling, or torso twisting.
• Tremors: Dystonia disorder is accomplished by tremors or rhythmic shaking intensifying visible motor abnormalities. The impacted body part experiences these tremors.
• Focal or Generalized Symptoms: Dystonia causes focal symptoms leading to a single body part such as the hand, neck, or face. 
• Pain and Discomfort: Steady postures and muscular contractions lead to pain for a large number of people with dystonia. Mild to severe discomfort is experienced and has a huge influence on everyday activities.
• Task-Specific Dystonias: Some types of dystonia are caused by specific tasks, like writing or performing an instrument. Particular muscular contractions linked to a given task are the result of task-specific dystonias.
• Variability in Symptoms: The seriousness of dystonia symptoms can change throughout the day depending on several factors such as stress, exhaustion, and emotional state.
• Secondary Features: Depending on the areas affected, patients with dystonia experience secondary features like trouble speaking, swallowing, or breathing.

What are Dystonia Causes?

Dystonia causes involves a combination of genetic and environmental factors. It is essential to comprehend the varied etiological dystonia contributors to diagnose and manage the condition effectively. Here are some primary dystonia causes: 

• Genetic Factors: A person's genetic factors make a big difference in how they develop dystonia. Some gene mutations are inherited by people, making them more vulnerable to developing dystonia.
• Environmental Triggers: Depending on the situation, environmental factors act alone or together with genetic factors to cause dystonia. Triggers are infections, trauma, exposure to particular drugs, or other environmental stressors.
• Brain Abnormalities: The brain area is responsible for coordinating movement, and the basal ganglia, is related to abnormalities in dystonia. 
• Neurotransmitter Imbalance: Dystonia is an outcome of changes in the balance of neurotransmitters, which are chemicals assisting nerve cells in communicating with one another.
• Secondary Dystonias: Dystonia can at times develop as a side effect of neurological disorders or other medical conditions. Huntington's disease, Parkinson's disease, and some metabolic disorders are some of the examples of dystonias.
• Idiopathic Dystonia: The condition is categorized as idiopathic dystonia because the exact cause of dystonia is not known. There is frequently no obvious genetic or environmental trigger for idiopathic dystonias.
• Task-Specific Dystonias: Some dystonias are caused by specific jobs or pastimes, like writing or performing music.
• Neuroplastic Changes: Dystonia occurs and persists over time as an outcome of long-term changes to the brain's plasticity, or capacity for adaptation and reorganization.

How is Dystonia diagnosed?

Usually, dystonia is diagnosed by a neurologist, and depending on the symptoms, several medical tests and neurological test assessments are initiated. Dystonia diagnosis often can be complex as it can occur along with other conditions. Hence, it is essential to prevent other conditions some of which are dangerous clinical emergencies. The tests are often recommended depending on the symptoms and what conditions are suspected by a healthcare professional. Here are some of the usual tests recommended to confirm dystonia diagnosis:

• Imaging tests- Computed tomography scan or Magnetic resonance imaging test
• Blood tests 
• Electroencephalogram 
• Genetic testing 
• Nerve conduction tests or electromyogram 
• Lumbar puncture or spinal tap 
• Positron emission tomography scan 

What are the options for Dystonia treatment?

Dystonia treatment is customized for symptom management, enhancing function, and improving the complete well-being of an individual affected by this condition. The technique for treatment differs depending on the dystonia severity and its type. Usually, the treatment options involve several therapies. Here are some of the treatment options for dystonia: 

• Medication: One of the most famous treatments for focal dystonias is botulinum toxin injections, also referred to as Botox. To treat the symptoms of dystonia, doctors also order drugs that relax muscles, act as anticholinergics, or target neurotransmitters.
• Physical therapy: Strengthening, extending, and coordinating muscles are the main objectives of physical therapy. Therapists customize exercise programs to enhance overall motor function and address dystonic postures and movements.
• Occupational Therapy: When a person has dystonia, occupational therapists assist in managing their daily activities. To maximize functional independence, they recommend assistive technology, adaptive techniques, and strategies.
• Speech Therapy: Speech therapists help people whose dystonia affects the muscles used for swallowing and speaking. 
• Deep Brain Stimulation: DBS is the process of surgically implanting electrodes in particular brain areas, usually the thalamus or globus pallidus. 
• Repetitive Transcranial Magnetic Stimulation (rTMS): rTMS is a non-invasive technique stimulating particular brain regions with magnetic fields. 
• Intrathecal Baclofen Therapy: A surgically implanted pump manages the muscle relaxant baclofen directly into the spinal fluid to lower muscle tone in people with serious generalized dystonia or dystonia-related spasticity.
• Lifestyle Changes: Reducing the symptoms of dystonia by controlling stress, exhaustion, and other triggers. Regular exercise, getting enough sleep, and learning stress-reduction strategies help improve overall well-being.
• Psychological and supportive therapies: Living with a long-term neurological disorder such as dystonia can be emotionally taxing. Psychological therapies, counseling, and support groups can give people and their families the skills they need to manage their emotional health.

Conclusion

In summary, dystonia is a complex and multifaceted neurological condition, posing challenges to both the people who experience its effects and the healthcare people who are dedicated to studying and treating it. Dystonia's different manifestations, involuntary muscle contractions, and abnormal postures underline the complex ways in which it affects day-to-day functioning. A nuanced approach is frequently necessary for the diagnostic process, containing a comprehensive physical examination, a detailed medical history, and occasionally specialized testing.

However, there isn't presently a cure for dystonia, several treatment options can help manage symptoms and improve general health. Treatment options for dystonia are expanding, providing hope and advancement for those impacted by the condition. It is always a better idea to get in touch with a healthcare expert if any serious complications are experienced. 

Faq -

 

Is dystonia hereditary?

Some types of dystonia are hereditary while some are genetic, however, it can happen on its own or is an outcome of another condition. 

Is dystonia life-threatening?

Dystonia is not life-threatening but issues caused by this disease can be dangerous.