Dystonia

and Sabine Schrör, medical journalist

Marian Grosser studied human medicine in Munich. In addition, the doctor, who was interested in many things, dared to make some exciting detours: studying philosophy and art history, working on the radio and, finally, also for a Netdoctor.

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Sabine Schrör is a freelance writer for the medical team. She studied business administration and public relations in Cologne. As a freelance editor, she has been at home in a wide variety of industries for more than 15 years. Health is one of her favorite subjects.

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Dystonia is defined as involuntary, long-lasting muscle tension. The reason for this can be found in the central nervous system. Dystonia can occur as an independent clinical picture (primary / idiopathic dystonia) or accompany other diseases (secondary dystonia), for example Parkinson's, Huntington's disease or stroke. Read everything you need to know about dystonia - definition, forms, symptoms, causes, diagnosis and treatment here.

Brief overview

• What is dystonia? Persistent movement disorder with muscle contractions that cannot be controlled voluntarily. Can lead to misalignments of individual parts of the body.
• Forms: Classification according to various criteria, e.g. into primary / idiopathic dystonia (without recognizable trigger), secondary dystonia (symptom of other diseases), segmental / focal dystonia (individual muscle groups affected), hemidystonia (one half of the body affected), generalized dystonia (entire body affected ), cervical dystonia (neck or neck muscles affected), blepharospasm (eyelid cramp), etc.
• Symptoms: repeated, long-lasting, involuntary movements, for example of the head or hands and fingers, tremors (tremor), sometimes pain, poor posture, later joint damage, restricted mobility.
• Causes: unknown in primary dystonia (probably dysfunction of certain areas of the brain; hereditary cause is also possible). Causes of secondary dystonia e.g. Parkinson's disease, Huntington's disease, encephalitis, brain tumor, stroke, lack of oxygen during childbirth, metabolic disorders, certain medications.
• When to the doctor Basically at the first sign of dystonia.
• Diagnosis: based on the individual medical history and clinical appearance. If secondary dystonia is suspected, specific examinations to identify underlying disease.
• Therapy: healing is not possible. However, symptoms can be alleviated with medication and surgery.

Dystonia: definition

Dystonia is a movement disorder. Those affected suffer from involuntary, i.e. not deliberately controllable, muscle contractions. These can lead to misalignments of individual parts of the body.

Unlike muscle spasms, muscle tension in dystonia lasts for a long time. In addition, they have a completely different origin: While muscle spasms occur as a result of brief disturbances in the muscle itself, dystonia is probably due to a malfunction in the areas of the brain that are responsible for the coordination of movements (basal ganglia).

Dystonia can occur in children and adolescents or only show up in adulthood.

Dystonia: forms

Doctors differentiate between the following forms of dystonia, depending on how it develops:

• primary (idiopathic) dystonia: It has no recognizable trigger and occurs independently of other diseases. As a result, it is an independent clinical picture.
• secondary dystonia: it accompanies other (basic) diseases. Almost half of all dystonias are secondary.
• Hereditary dystonias: Depending on the doctrine, they are either viewed as a separate group (heredodegenerative dystonias) or assigned to the primary dystonias.

Dystonias can also be categorized based on the affected body areas:

• segmental / focal dystonia: This affects individual muscle groups.
• Hemidystonia: affects one half of the body.
• generalized dystonia: this affects the entire body. Often only segmental / focal symptoms appear at first, which then later spread to the whole body.

Among the primary dystonias, focal / segmental dystonias form the majority in adults.

Psycho-vegetative dystonia: Not a classic dystonia

Psycho-vegetative dystonia has nothing to do with classical dystonia in the neurological sense. Because here the vegetative nervous system is affected, not the central one. The autonomic nervous system regulates blood pressure, respiratory rate and digestion, for example. If there is a malfunction here, symptoms such as nervousness, restlessness, irritability, insomnia, dizziness, shallow breathing and headaches can occur.

The term psycho-vegetative (or also vegetative) dystonia is scientifically controversial. Some experts simply refer to psycho-vegetative dystonia as the "diagnosis of embarrassment".

Dystonia: examples

In principle, dystonia can affect any muscle group. The manifestations are correspondingly diverse. Typical representatives of focal dystonia are, for example:

• cervical dystonia (torticollis spasmodicus): Here part of the neck or neck muscles is affected, causing the head to stand crooked ("torticollis").
• Blepharospasm (eyelid cramp): Sufferers have to squint their eyes at short intervals. In extreme cases, there is a risk of blindness.
• Oromandibular dystonia (mouth, tongue, throat cramp): Here the muscles of the lower half of the face (jaw, tongue, mouth) cramp. Eating and speaking are difficult for those affected.
• Meige syndrome: A combination of blepharospasm and oramandibular dystonia.
• Spasmodic dysphonia (voice / speech spasm): This is where the larynx muscles go on strike. Patients often moan and make pressed noises. In severe cases, they can lose their voice completely.
• Limb dystonia (writing / occupation cramp): When learning complex movement sequences (such as writing or making music), arms and hands cramp.

The forms described are not equally common. For example, blepharospasm and limb dystonia are more common than spasmodic and oromandibular dystonia.

A special form of dystonia is the so-called Segawa syndrome (dopa-responsive dystonia), which usually shows up in early childhood. A pronounced inward position of the feet is typical. In the advanced stage, those affected can no longer walk. "Dopa-responsive" means that the clinical picture improves significantly if those affected take drugs with the active ingredient L-Dopa. However, this substance does not work in other forms of dystonia.

Dystonia: symptoms

The involuntary, long-lasting muscle contractions often occur with repetitive movements, for example:

• The head is tilted convulsively to one side again and again
• Twisting of hand and fingers in screw-like movements
• Rapid tremors (tremor) of the affected parts of the body, as is also known from Parkinson's disease
• Pain in severe dystonia
• Joint damage as a result of the persistent misalignment, later restricted mobility

Dystonia: causes

Depending on which form of dystonia it is, different causes can be responsible for the disease.

Causes of Primary Dystonia

It is currently not known exactly how primary dystonia develops. It is assumed, however, that certain areas of the brain, the so-called basal ganglia, are responsible for the movement disorders.

The basal ganglia mainly regulate unconscious movements. It is believed that failures there can lead to uncontrolled muscle contractions. This is also supported by the fact that diseases or injuries to the basal ganglia often trigger dystonia.

In some primary dystonias, genetic connections could also be demonstrated. However, hereditary causes are not known for most forms.

Causes of Secondary Dystonia

There are many neurological disorders or central nervous system disorders that can cause dystonia. In these secondary dystonias, too, it is probably the basal ganglia that cause malfunctioning muscle movements.

The possible triggers of secondary dystonia include, for example:

• Parkinson's disease: In addition to the typical symptoms such as stiff muscles, immobility and muscle tremors, dystonia can also occur.
• Huntington's disease: This hereditary brain disease gradually destroys the so-called striatum - part of the basal ganglia.
• Brain tumors
• Inflammation of the brain (encephalitis)
• stroke
• Lack of oxygen at birth (perinatal hypoxia)
• Metabolic disorders such as Wilson's disease (copper storage disease)

Dystonia can also occur as a long-term side effect of certain medications. These include above all psychotropic drugs and drugs that act on the central nervous system. One then speaks of a tardive dystonia. Typical triggers include classic neuroleptics, which are used to treat schizophrenia, for example. On the other hand, antidepressants, antihistamines (antiallergy drugs) and agents against epileptic seizures (anticonvulsants) are much less likely to cause dystonia.

Some stimulants can also cause dystonia.

Optical stimuli such as bright light, certain movements or stress can trigger or worsen the symptoms of dystonia. However, they are not to be confused with the root cause.

Dystonia: course

Dystonias run very differently - depending on the cause and the individual constitution of the person affected. Primary dystonia can begin violently and with severe pain and subside over the years. But it can also develop slowly and get stronger over time.

The same applies to secondary dystonia; it usually runs parallel to the development of the underlying disease.

Generalized dystonia usually begins in a muscle group and only gradually spreads to the whole body.

Dystonia: When Should You See a Doctor?

Although dystonia is not immediately harmful to health, sufferers should consult a doctor (family doctor or neurologist) at the first signs. Because the sooner a suitable therapy is started, the more the quality of life can be increased. It is also important to identify and treat the underlying disease that may have caused it.

Dystonia: what does the doctor do?

The doctor will first determine the form, possibly the cause, and the extent of the dystonia. Then he can initiate appropriate treatment.

Investigations

There are no specific exams or tests that can be used to detect dystonia. Therefore, for the diagnosis, the doctor relies on the clinical appearance and the exclusion of other diseases with similar symptoms.

The first source for making a diagnosis is taking the medical history (anamnesis) in conversation with the patient or the parents (in the case of affected children). For example, the following information is important here:

• Age of the patient
• in children: course of birth and previous development
• previous illnesses and injuries
• any medication the patient is taking
• similar illnesses in the family

In addition, the health care professional may perform special tests to identify the disease underlying secondary dystonia.

Correct diagnosis is difficult, especially when dystonia is beginning, as the symptoms can still be relatively unspecific. There is also a risk of confusion with other diseases. For example, the typical tics in Tourette's syndrome are very similar to the symptoms of dystonia.

treatment

Dystonias are treated with drugs or surgery. Relaxation exercises, physiotherapy and orthopedic measures can also help.

Medication

The most important active ingredients in drug therapy for dystonia are:

• Botulinum toxin (Botox): This neurotoxin produced by bacteria is injected locally. It relaxes the affected muscles and reduces cramps. The effect lasts for a few months. Then another injection is necessary. Botulinum toxin is mainly used in focal and segmental dystonias.
• Anticholinergics: These drugs act on the autonomic nervous system and improve symptoms in many dystonia patients. However, their use must be strictly monitored, as they can be associated with many side effects.

• Benzodiazepines, anti-epileptic drugs, L-Dopa: Treatment with these agents can be tried if the patient does not respond to treatment with botulinum toxin or anticholinerics.

surgery

If the medication does not help (sufficiently), surgery can be considered:

• In selective peripheral denervation, the surgeon cuts the nerve branches that stimulate the affected muscle to move.
• In deep brain stimulation, a stimulating probe is placed in the basal ganglia region.

Whether medication, surgery or other therapeutic measures - there is no cure for dystonia. With the right treatment, however, the symptoms can be significantly improved, which increases the patient's quality of life.

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