What is a hyperkinetic movement disorder? An explanation.

A movement disorder is a neurological condition that causes unwanted or uncontrollable movements. The term hyperkinetic movement disorder describes increased or excessive movement which may affect both voluntary (intentional) and involuntary (unintentional) movements. The term “hyper-” refers to the overactive nature of the disorder, while “-kinetic” relates to motion and movement. These specific types of movements are often described as repetitive or involuntary.

Hyperkinetic movement disorders are often associated with a primary diagnosis, such as an underlying neurological disorder or genetic condition that may be causing movement disorder symptoms. Symptoms of hyperkinetic movement disorders vary in type(s) and severity. A movement disorder may develop in early childhood due to pediatric neurological disorders (e.i. Rare genetic disorders) or develop later in adulthood (e.i. Neurodegenerative disorders such as Parkinson’s Disease).

There are multiple types of hyperkinetic movement disorders with specific characteristics and motions associated with each type. Each category will have a unique presentation, which helps sort through the nuances and overlapping features of each type. Below is a list of the different hyperkinetic movement disorders that exist.

Types of Hyperkinetic Movement Disorders:

1. Dystonia
2. Chorea
3. Athetosis
4. Myoclonus
5. Tremor
6. Tics
7. Stereotypies

Each type of hyperkinetic movement disorder may have similarities and differences that can make it hard to classify or accurately describe the disorder. In addition, it is also common for a patient to present with not one, but multiple types of movement disorders, making some patient cases more complex. This is especially common in patients with a rare genetic disorder, as multiple body systems may be affected in disease. NGLY1 Deficiency is an example of a genetic disorder that may develop symptoms of hyperkinetic movement disorders such as tremor, dystonia, and chorea. Since it is a developmental disorder, these uncontrolled movements may be observed at a young age and change over time. 

The following definitions (presented in italics) were created by the Taskforce on Childhood Movement Disorders in 2008 to find consensus on terminology [1].

Dystonia

“Involuntary sustained or intermittent muscle contractions cause twisting and repetitive movements, abnormal postures, or both” [1].

A distinguishing feature of dystonia is that it causes a consistent abnormal posture. Dystonia often manifests as a twisting motion of the torso coupled with an angled neck. This may result in a consistent lopsided posture coupled with repetitive twisting movements. This constant position is often disabling.

Example disorder: dyskinetic cerebral palsy [2].

Chorea

“Ongoing random-appearing sequence of one or more discrete involuntary movements or movement fragments” [1].

The term “chorea” was named in reference to dance and choreography, as this movement disorder results in whole body spasms and uncoordinated movements that may appear to flow together and throughout the body. In initial stages, chorea may only affect one body region such as the face, but overtime can affect the whole body throughout the process of neurological degeneration.

Example disorder: Huntington’s disease [3].

Athetosis

“Slow, continuous, involuntary writhing movement that prevents maintenance of a stable posture” [1].

The Greek term “athetosis” means the inability to remain in a stable posture. Athetosis usually affects the same regions of the body repetitively, with emphasis on extremities such as hands and feet [1]. It is oftentimes confused with dystonia, however while dystonia causes a consistent abnormal posture, athetosis causes the inability to remain in a stable posture.

Example disorder: Wilson’s disease [4].

Myoclonus

“A sequence of repeated, often non-rhythmic, brief shock-like jerks due to sudden involuntary contraction or relaxation of one or more muscles” [1].

Myoclonus is unique in its quick jerky movements, which manifest as “jolts” throughout the body. These jolts usually occur repeatedly but do not follow a strict pattern.

Example disorder: Creutzfeldt-Jakob disease (CJD) [5].

Tremor

“Rhythmic back-and-forth or oscillating involuntary movement about a joint axis” [1].

A tremor is the most well-known type of hyperkinetic movement disorder, and it is most noticeable in the hands and extremities. It affects fine motor control movements by creating uncontrollable shakiness, even when someone is trying to be still. Tremors may also develop with age. Many adults over 70 develop tremors. There are specific subtypes of tremor that may be categorized by a trigger, such as being at rest (“rest tremor”) or during specific movements such as touching a target (“intention tremor”).

Example disorder: Parkinson’s disease [6].

Tics

“Repeated, individually recognizable, intermittent movements or movement fragments that are almost always briefly suppressible and are usually associated with awareness of an urge to perform the movement” [1].

A unique feature of tics is that oftentimes they are predictable and can be triggered by suggestion. There is usually a recognizable pattern and specific number of tics per patient. Tics may be classified by motor tics or phonic tics (vocalization). 

Example disorder: Tourette’s Syndrome [7].

Stereotypies

“Repetitive, simple movements that can be voluntarily suppressed.”

Examples may include waving or flapping hands and arms. It is more typical in upper extremities.

Example disorder: Autism Spectrum Disorder (ADS) [8]. May also occur in young children in absence of disorder as a part of normal development [9].

Who is affected by hyperkinetic movement disorders?

Both children and adults may be affected by hyperkinetic movement disorders. Cases will range in causes, severity, and movement disorder type. A diagnosis of a hyperkinetic movement disorder may be associated with a primary cause, such as a neurodegenerative disease or genetic predisposition. Symptoms may also come and go, or develop later in life depending on disease severity. For example, children are more likely to develop temporary tics that they may grow out of, while elderly patients commonly develop tremors later in life. 

What causes hyperkinetic movement disorders?

1. Genetic Conditions: Certain genetic diseases are associated with hyperkinetic movement disorders such as Huntington’s Disease, Wilson’s Disease, and other rare genetic disorders such as NGLY1 Deficiency.
2. Neurological Conditions: This includes certain brain injuries/lesions, cerebral palsy, and neurodegenerative diseases such as Parkinson’s disease.
3. Infections: Certain bacteria can trigger hyperkinetic movement disorders, although this is less common [10].
4. Medications: Some drugs have side effects that may introduce hyperkinetic movement disorders, especially those involved in the dopamine system [11].

Assessment & Diagnosis:

Many movement disorders are coupled with other neurological and/or multi-system symptoms. Therefore, it is important that examinations include a full neurological assessment in addition to movement assessments. The assessments should look at overall quality of life, mental and behavioral health, and cognitive abilities in addition to movement disorders and motor function [12]. Below is a list of the full assessments used during a diagnosis: 

1. Gait and Balance
2. Functional tasks
3. Speech and cognition
4. Swallowing difficulties 
5. Mental Health (behavior/affective state)

Due to the nuances and overlapping features between the different types of hyperkinetic movement disorders, it is important to see a specialist to determine an accurate diagnosis. A clinician or neurologist will note if the movement has the following characteristics to determine which specific types of movement disorders are present. These characteristics include the following:

1. Rhythmic
2. Repeated posture
3. Repeated stereotypic movement
4. Suppressible

It is important to note that some patients exhibit multiple types of movement disorders at once. For example, children with genetic disorders often experience multiple movement disorders simultaneously, such as dystonia, tremor, and stereotypies. It is helpful to identify the specific movement disorders in order to properly manage symptoms. If necessary, a clinician may choose subsequent testing such as genetic testing, electrophysiology examinations, or an MRI to support diagnosis.

What is the treatment for hyperkinetic movement disorders?

Treatment will depend on the cause and type of movement disorder. Unfortunately, many types of hyperkinetic movement disorders do not have a cure. However, with certain medications or therapy interventions, symptoms can be managed to improve quality of life. 

Medication

In certain cases, a medication may be used to intervene and help with symptoms. This may include muscle relaxants to aid with spasms, or anti-anxiety medications to help with dystonia. For Parkinson’s disease and restless leg syndrome, the dopamine replacement therapy L-Dopa has temporary benefits that improve symptoms dramatically. Unfortunately, this is not a long term solution, as there are psychosis side effects and eventually the medication loses its effects. 

Therapies

If medication is not an option, adding therapy sessions may prove beneficial. Therapies are intended to practice activities and strengthen skills, which may create small improvements over time. Below is a list of the common therapies utilized for movement disorders:

1. Physical therapy
2. Occupational therapy
3. Speech therapy

Conclusion

Hyperkinetic movement disorders are a specific and complex group of movement disorders categorized by excessive or increased movements that are uncontrollable. There are 7 types (dystonia, chorea, athetosis, myoclonus, tremor, tics, stereotypies) that show increased or excessive movements that are oftentimes repetitive. Hyperkinetic movement disorders affect both children and adults, but range in severity and type. With pediatric cases, it is not unusual to exhibit multiple movement disorders at once. Depending on the type and severity, medication or physical therapies may be used to manage symptoms and improve quality of life. 

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References:

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