More Info: Generalized Dystonia

Generalized dystonia refers to dystonia that is not limited to a single part of the body but affects multiple muscle groups throughout the body. Generalized dystonia typically affects muscles in the torso and limbs, and sometimes the neck and face. Patients have difficulty moving their bodies freely and controlling their body movements. It is important to note that dystonia does not target vital organs such as the heart.

Generalized dystonia typically begins during childhood or adolescence, often without additional neurological symptoms. Initial symptoms may be a turned or twisted foot and/or leg. However, dystonia in children can be associated with more complex neurological or metabolic diagnoses. Generalized dystonia can occur with or without a family history. The symptoms may always be present or only occur in episodes.

Generalized dystonia is frequently misdiagnosed, sometimes mistaken for Parkinson’s disease, tremor, cerebral palsy, orthopedic and structural conditions, and behavioral disorders or mental illness.

Symptoms
Generalized dystonia often begins in an arm or foot and progresses over months or years to affect additional areas of the body. If untreated, dystonia symptoms can cause orthopedic issues in the muscles and joints. Dystonia can cause pain, but not always. Early treatment can often slow or suppress symptom progression.

Symptoms can include:

  • Twisted postures, for example in the torso or limbs
  • Turning in of the foot or arm
  • Muscle spasms, with or without pain
  • Unusual walking with bending and twisting of the torso
  • Rapid, sometimes rhythmic, jerking movements (often myoclonic jerks)
  • Progression of symptoms leading to areas of the body remaining in sustained or fixed postures

In extreme cases, the development of increasingly frequent or continuous episodes of severe generalized dystonia causes a medical emergency called status dystonicus. If untreated, this rare condition can cause life-threatening complications. Status dystonicus is a treatable condition and, with prompt medical attention, symptoms typically can be brought under control.

Cause
There are multiple causes for generalized dystonia. Dystonia may result from changes in certain genes, birth injury, exposure to certain drugs, head injury, infection, and other secondary causes. Dystonia symptoms that occur only on one side of the body strongly suggest a secondary cause. Dystonia resulting from secondary causes often occurs with additional movement and neurological symptoms, depending on the nature and severity of injury to the nervous system.

For many people who develop generalized dystonia, there is no identifiable cause.

Genetics
There are several genetic subtypes of generalized dystonia. For example:

Early Onset Generalized Dystonia (DYT1/TOR1): DYT1 dystonia typically begins around age 10 years with the twisting of a foot or arm. Symptoms tend to begin in one body part and progress to involve additional limbs and the torso, but usually not the face or neck. In rare cases, the vocal cord muscles are affected. The symptoms tend to be less severe the later in life they start and if they start in a hand or arm. About 30% of individuals who have the DYT1 genetic mutation will develop dystonia. If a person does not manifest symptoms before the age of 28 years, they will usually remain symptom free for life—even if they have the DYT1 mutation. The DYT1 mutation is responsible for about 90% of early onset generalized dystonia in individuals of Ashkenazi Jewish ancestry and up to about 50% of early onset generalized dystonia in other ethnicities.

Adolescent Onset Generalized Dystonia (DYT6/THAP): DYT6 may occur as generalized dystonia or remain focal to a specific part of the body. Although the symptoms may resemble DYT1 dystonia, onset of DYT6 is usually in the late teens and symptoms are more likely to occur above the neck. Symptoms typically affect the muscles of the tongue, vocal cords, and face. Patients often have difficulty speaking. About 40% of individuals who have the mutation will develop dystonia.

Testing for DYT1, DYT6, and other known dystonia genes is available. There are also inherited dystonias for which the gene has not yet been found and therefore cannot be detected with existing genetic tests. A genetic counselor can help families understand what genetic testing may be appropriate.

Treatment
Individuals with dystonia are encouraged to seek treatment from a neurologist or child neurologist with special training in movement disorders. A multidisciplinary team of expert medical professionals may be appropriate to tailor treatment to the needs of the patient.

A movement disorder specialist will develop a treatment plan that is customized to each patient. Most individuals require a combination of therapies. Treatment to lessen dystonia symptoms may include oral medications such as anticholinergics, baclofen, and benzodiazepines combined with botulinum neurotoxin injections, and/or surgical procedures such as deep brain stimulation (DBS). Research suggests that individuals who have generalized dystonia without additional neurological or movement symptoms (with the exception of tremor) tend to have the best outcomes from DBS as well those who are younger, test positive for the DYT1 dystonia gene mutation, and are treated relatively early in the dystonia progression.

Specific treatment may be needed to prevent loss of motion in the joints and/or curvature of the spine due to the dystonic postures. Complementary therapies to support overall functioning and wellness may include occupational therapy, physical therapy, speech/voice therapy, and other interventions depending on a person’s symptoms. Individuals with childhood onset generalized dystonia may have increased risk for depression so monitoring and addressing emotional and mental health is often an important part of the treatment strategy.

 

 

 

 


 

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