Dystonia Genetic Disorder (Guide)

Updated on June 26th, 2019

What's In This Guide?

    Disclaimer: Before You Read

    It is important to know that your genes are not your destiny. There are various environmental and genetic factors working together to shape you. No matter your genetic makeup, maintain ideal blood pressure and glucose levels, avoid harmful alcohol intake, exercise regularly, get regular sleep. And for goodness sake, don't smoke.

    Genetics is a quickly changing topic. Read More.

    The diagnosis of any type of disease and disorder can be frightening, especially when it’s affecting a loved one. Conditions such as dystonia can affect people of all ages.

    Dystonia in children is something that can occur. One dystonia definition describes it as a state of unusual muscle tone which results in abnormal posture and/or muscle spasms.

    What Is Dystonia?

    Generalized dystonia is a term used to describe a group of neurological movement disorders which are highly complex. Individuals who have these disorders have involuntary muscle contractions, and are forced into very painful positions and movements.

    Dystonia can affect people of all ages, races, and sexes, and it affects approximately 300,000 people in North America 1. Cervical dystonia typically affects women more than men.

    Different Types of Dystonia:

    There are three different classifications of dystonia, and they are classified as 2:

    • Ages 0-12: Childhood onset
    • Ages 13 to 20: Adolescent onset
    • Ages 20 and older: Adult onset

    The different conditions that fall into the dystonia category are 3:

    • Blepharospasm
    • Cervical dystonia
    • Dopa-responsive dystonia
    • Drug induced
    • Functional (psychogenic) dystonia
    • Generalized dystonia
    • Hand dystonia (writer’s cramp)
    • Lower limb dystonia
    • Musician’s dystonia
    • Myoclonus dystonia or startle reflex dystonia
    • Neurological and metabolic disorders
    • Oromandibular dystonia
    • Paroxysmal  dystonia
    • Pediatric dystonia  
    • Trauma induced
    • X-linked dystonia-parkinsonism
    • Rapid onset dystonia-parkinsonism

    Dystonia can be a symptom of certain diseases and conditions. It can also develop from certain events in life, such as trauma or taking certain medications.

    When comparing dystonia vs dyskinesia, they can appear to be very similar to one another, but there are differences. Dystonia causes prolonged contractions, leading to abnormal posture and muscle spasms.

    Dyskinesia causes rhythmic contractions that occur over a larger number of muscles.

    Symptoms of Dystonia

    Dystonia affects individuals differently, causing muscle contractions in various parts of the body.

    Most of the time, the symptoms come on when an individual is performing a certain task, such as writing or playing a musical instrument. Some of the symptoms get worse when an individual is stressed, fatigued, or has anxiety.  

    Some early symptoms of dystonia include:

    • Speech difficulties
    • Uncontrollable blinking
    • Foot cramping
    • “Dragging leg”
    • Involuntary pulling of the neck
    • Muscles twitching when relaxed

    Dystonia symptoms can affect one muscle group or several, and range from mild to severe in intensity. When dystonia discovery occurs in young children, the symptoms usually begin in the feet or hands and then quickly progress to the rest of the body.

    Adults who have it usually start having symptoms in their upper body, with slow progression.

    Signs and symptoms of dystonia can vary greatly depending on the exact type.

    Causes of Dystonia

    There can be numerous causes of dystonia, and sometimes there is no specific cause at all.

    Some forms of dystonia are inherited from a parent. Acquired dystonia can occur when there is damage to the basal ganglia. This is often the result of:

    • Stroke
    • Infection
    • Drug reactions
    • Carbon monoxide poisoning
    • Brain trauma
    • Tumor
    • Oxygen deprivation

    Dystonia can occur as a symptom of specific conditions and disease which include:

    • Wilson’s disease
    • Huntington’s disease
    • Parkinson’s disease

    In some cases of dystonia, there’s no apparent reason for it occuring and there is no family history of it at all, which makes it sporadic. When doctors cannot determine the exact cause of the dystonia, this makes it idiopathic.

    The most common type of dystonia in children is called dyskinetic cerebral palsy, which causes writhing and twisting movements that are completely involuntary. This type begins after the child turns one and can occur on both sides of the body.

    Some of the known causes of dyskinetic cerebral palsy are metabolic disorders, stroke, toxins, autoimmune disorders, and taking certain medications.

    Can Dystonia Be Inherited?

    There are many types of dystonia, some in which can be inherited. Approximately 20 genes that cause dystonia have been identified, which typically relate more towards early-onset dystonia.

    Even with this number of genes identified, there could be a lot more that have yet to be discovered, but neurologists believe it will be possible someday 4.

    Some cases of genetic dystonia occur when the unhealthy gene is recessive. In cases such as these, an individual with dystonia will pass a dystonia-causing gene to any child they have. In most cases of genetic dystonia, the unhealthy gene is the dominant one.

    This means the unhealthy gene will be active during child development, and can lead to dystonia. If a child does receive dystonia-causing genes, it doesn’t mean they will definitely develop dystonia.

    What Triggers Dystonia?

    There are some dystonia triggers that can help prevent the development of symptoms. Some ways in which this type of dystonia can be prevented include:

    • Developing healthy practice habits
    • Start slowly and slowly increase playing time in stages
    • Don’t ignore injuries and push through them
    • Avoid any unnecessary movements and adapt new repetitive movements

    Sometimes all it takes is increasing the practice or performance time, changing the technique, and trying out a new instrument can trigger the symptoms.

    Dystonia and Genetics

    There are certain types of dystonia that run in families.

    The forms of dystonia known to run in families include:

    • X-linked dystonia-parkinsonism
    • Cervical dystonia
    • Paroxysmal dystonia
    • Myoclonus dystonia
    • Rapid-onset dystonia parkinsonism
    • Dopa-responsive dystonia    

    Genetic instances of dystonia are inherited dominantly. This means that only one parent has to have the gene for the child to end up inheriting it.

    Dystonia genes are known to have a reduced penetrance 5. This is good news because it means that if the gene is passed onto a child, there is no guarantee they’ll have any of these conditions.

    Dystonia Risk Factors

    The exact cause of dystonia has not yet been determined 6. There are certain factors, however, that can put certain people more at risk of developing it.

    Some common risk factors include:

    • Stroke
    • Medications such as neuroleptics
    • Bacterial, fungal, and viral infections
    • Poisoning
    • Brain or nervous system injuries
    • Family history
    • Frequently performing precise hand movements, such as with engineers and musicians

    How is Dystonia Diagnosed?

    There are numerous diagnostic tools that can be used for diagnosing dystonia. The diagnosis of dystonia doesn’t usually come from one single test, but a variety of them.

    Doctors will almost always go over a patient’s medical history with them before performing any kind of physical examination. The doctor will want to look to see if there’s a family history of dystonia or any kind of movement disorders.

    Blood Tests  — Blood tests are used to determine if there are signs of toxins or other conditions.

    Electromyography  — The purpose of electromyography is to measure any kind of electrical activity located within the muscles.

    MRI  — This type of test utilizes radio frequency and magnetic fields to form a detailed image of the brain. It’s also used to help determine if there are other conditions, such as a brain tumor. Dystonia does not show up on an MRI but it can help the doctor determine if there’s anything else causing the symptoms.

    How Is Cervical Dystonia Diagnosed?

    Many doctors are able to determine if a patient has cervical dystonia from a physical examination alone. If the doctor is not able to successfully diagnose dystonia, they may suggest performing a blood test or MRI to see if there are any other conditions a patient might have that would cause the symptoms they’re experiencing.

    Genetic Testing for Dystonia

    If there is a concern of dystonia running in a family, there’s likely other concerns involving future children and their chances of inheriting the genes. There are genetic tests available to help identify the genetic risks of early-onset dystonia.

    Since a large majority of the types of dystonia are not genetic, any genetic tests will only be able to provide limited benefits. Genetic tests are available to determine very specific and usual types of dystonia and are generally not routinely available from a primary care physician.   

    Dystonia Treatment Options

    There are no dystonia treatment options available that will prevent it or slow down the progression. The treatment options available are for managing symptoms, making life with dystonia a little more bearable.

    Dystonia treatment with physical therapy is a common option for numerous types, including cervical dystonia. The main goal of physical therapy is to help individuals improve their body posture and develop more control over their muscles.

    Physical therapy can help make it easier to perform everyday tasks such as driving, walking, and working.  

    Another type of treatment known to help manage symptoms is the botulinum toxin injection. A bacterium called clostridium botulinum produces this naturally and it is used to limit the muscle activity caused by dystonia.

    This treatment is generally only given to adults, but can sometimes be given to children if deemed an appropriate solution for managing the symptoms.

    Treating dystonia with Benadryl is an option for acute drug-induced dystonias. Certain drugs can cause spasmodic and involuntary contractions and muscle spasms in the face, neck, and trunk.

    Benadryl is a solution to help alleviate these symptoms after a first time exposure.

    Injections of Botox directly into specific muscles can eliminate or reduce the muscle contractions and may end up helping to improve an individual’s abnormal posture. These injections get administered every three to four months, depending on how often the doctor deems it necessary for symptom management.

    Pediatric dystonia treatment can include physical and speech therapy, relaxation techniques, the use of adaptive devices and equipment, and oral medications. Deep brain stimulation surgery is an option in severe cases.

    Other medications can be used to help manage symptoms including:

    • Carbidopa-levodopa
    • Diazepam
    • Tetrabenazine
    • Trihexyphenidyl

    Natural treatment for dystonia includes stretching and massage to help relieve muscle pain. Speech therapy can help when it affects a person’s voice. Medical cannabis is also another option to naturally relieve the symptoms of certain dystonias.

    Painkillers for dystonia can be prescribed for some instances. Because dystonia symptoms can end up lasting for days and even weeks, it can be hard to adequately manage the pain for the entire duration.

    Surgery

    There are surgical options available when symptoms are severe. Two surgical options include deep brain stimulation and selective denervation surgery.

    During deep brain stimulation, an individual has electrodes surgically implanted into a part of the brain. These electrodes are connected to the chest area where an implanted generator is. The generator works to send electrical impulses to the brain to help improve muscle contractions.

    Selective denervation surgery is when certain nerves responsible for controlling the muscle spasms are cut. This option is usually only used when no other types of treatment have shown to be effective.

    Prognosis of Dystonia

    There is no cure available for dystonia. There are many variances in the types of dystonia individuals can get, making a prognosis hard to determine.

    Generally with these types of conditions, they slowly progress, and the day-to- day symptoms can be different for each person.

    Sometimes, the symptoms of dystonia can go away completely. This only occurs in around 5 to 10% of affected individuals. When the symptoms go away, this is called total remission.

    Total remission is most common when it’s secondary dystonia, such as when it occurs after a stroke. Someone with an underlying condition such as Parkinson’s disease will likely have their symptoms for the rest of their lives.

    In cases of focal dystonia, the symptoms will gradually get worse over a period of 5 years and then they won’t worsen anymore after that.

    People living with cervical dystonia can experience periods where they have no symptoms at all. There is no cure for this order though, and individuals will likely experience symptoms for the rest of their life.

    Stress can make symptoms of cervical dystonia worsen, so finding relaxation techniques and proper symptom management is recommended.

    Referenced Sources

    1. Dystonia.
      National Organization for Rare Disorders. 2019.
    2. Dystonia.
      American Association of Neurological Surgeons. 2019.
    3. Types of Dystonia.
      Dystonia Medical Research Foundation. 2019.
    4. Is dystonia inherited?
      The Dystonia Society. 2019.
    5. Genetics.
      Dystonia Medical Research Foundation. 2019.
    6. Dystonia.
      Cedars-Sinai Medical Center. 2019.