Generalized Dystonia

Generalized Dystonia: Causes, Symptoms, Types and Treatment

Generalized dystonia affects more than one muscle group throughout the body and is not restricted to a single part. It affects primarily the torso and limbs, but can also affect the neck and face. People with this disorder struggle to control their body movements and move freely. There is no evidence that dystonia affects vital organs including the heart.

A person with generalized dystonia begins to exhibit various neurological symptoms during childhood or adolescence. It may initially appear as a twisted or turned foot or leg. However, the occurrence of dystonia can be a sign of a more complex neurological or metabolic disorder. It may develop in families or independently. Some people may experience dystonia consistently, while others may only experience it occasionally.

Frequently misdiagnosed, generalized dystonia is confused with conditions such as Parkinson’s disease, tremor, cerebral palsy, orthopedic conditions, and mental illness or behavioral disorders.

Read: Focal Dystonia

What are the symptoms of generalized dystonia?

Dystonia in general usually starts in an arm or foot and eventually spreads to other parts of the body. Symptoms of dystonia may lead to injuries to the muscles and joints if left untreated. Pain from dystonia is not always present. If treated early, symptoms can often be slowed or suppressed.

Here are some examples:

  • Postures involving twisting of torso or limbs
  • Turning feet or arms in
  • Pain or muscle spasms
  • Walking with a bent and twisted torso
  • Movements that are rapid and rhythmic (often myoclonic jerks)
  • An increase in symptoms leads to sustained or fixed postures in certain parts of the body

Developing severe generalized dystonia that occurs more frequently or continuously can cause a medical emergency known as status dystonicus. The condition can have significant medical complications if left untreated. Status dystonicus can generally be controlled with prompt medical attention and, with prompt treatment, symptoms can be managed.

Read: Stereotypic Movement Disorder

What causes generalized dystonia?

It can be caused by several factors. A person who suffers from dystonia may have a variety of secondary causes, including changes in certain genes, birth injury, drugs, head injury and infection. If dystonia only affects one side of the body, then it is extremely likely that there is another cause. The severity and nature of a nervous system injury will determine the type and severity of dystonia resulting from secondary causes.

There is no identifiable cause for the development of generalized dystonia in many people.

Are there different types?

Yes. Generalized dystonia has multiple genetic subtypes. These include:

Early Onset Generalized Dystonia (DYT1/TOR1)

Around the age of 10 years, DYT1 dystonia usually manifests as a twisting of the foot or arm. There is usually a startling tendency for symptoms to begin in one body part and spread to adjacent limbs, the torso, and the face, but not the neck and face. Only extremely rare cases require treatment for the vocal cords. When the symptoms appear later in life and when they begin in a hand or arm, they tend to be less severe.

A genetic mutation in DYT1 will cause dystonia in about 30% of individuals. Even if a person has the DYT1 mutation, they will most likely never experience symptoms if they don’t show them before 28. For people of Ashkenazi Jewish ancestry, about 90% of early onset generalized dystonia is due to the DYT1 mutation, and up to 50% of cases in other ethnicities.

Read: Motor Disorders

Adolescent Onset Generalized Dystonia (DYT6/THAP)

DYT6 can be a generalized form of dystonia or can be focused on a particular body part. DYT6 dystonia may share some symptoms with DYT1 dystonia, but usually begins in late adolescence, and the symptoms are usually located above the neck. Muscles in the mouth, vocal cords, and face are usually affected. Patients may experience difficulty speaking. Dystonia affects approximately 40% of those with this mutation.

Dytonia genes DYT1, DYT6, and others are tested to determine if they are present. In addition, there are dystonias whose genetic cause is unknown, and therefore the condition cannot be diagnosed. Genetic counselors can assist families in understanding if genetic testing is needed.

Generalized dystonia treatment

The symptoms of dystonia should be diagnosed by a neurologist or child neurologist who specializes in movement disorders. It may be useful to assemble a multidisciplinary team of experts to tailor treatment to a patient’s needs.

Each patient will receive a customized treatment plan from a movement disorder specialist. Treatment plans are usually a combination of therapies. Medications such as anticholinergics, baclofen, and benzodiazepines may be prescribed to treat dystonia symptoms, in addition to injections of botulinum neurotoxin, and/or surgery such as deep brain stimulation (DBS).

Research suggests that patients with generalized dystonia, lacking additional neurological or movement difficulties (with the exception of tremor), are more likely to benefit from DBS when they are younger, have the DYT1 dystonia gene mutation, and receive treatment at an early stage of the disorder.

Dystonic postures can cause the joints to lose motion and the spine to curve in the wrong way, requiring specific treatment. There are a variety of complementary therapies available to support overall health and wellness, depending on the symptoms a person has. The treatment of generalized dystonia with a focus on emotional and mental health is often critical for patients with childhood-onset dystonia.

Read: Chronic Motor Tic Disorder

What type of doctor treats generalized dystonia?

Neurologists (and pediatric neurologists) with experience in movement disorders are encouraged to treat individuals with dystonia. The needs of a patient may require a multidisciplinary team of medical professionals.

How will this impact my life?

Dystonia can be managed well. Finding an effective treatment during the early phases of symptom onset, diagnosis, and diagnosis is often the hardest. Occasionally, treatment can be very effective in reducing or suppressing symptoms.

Dystonia sufferers should take the following steps:

  • Seek treatment from a movement disorder specialist neurologist.
  • Discover the treatment options for dystonia.
  • Develop a highly personalized support system that includes friends, family, online resources, support groups and online resources
  • Identify and treat possible coexisting depression or anxiety disorders with the help of expert mental health professionals.
  • Research complementary therapies to enhance well-being and overall functioning. Participate in dystonia communities.

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