Dystonia

GENERAL ASPECTS

Dystonia is characterized by the presence of prolonged and/or excessive muscle spasms or contractions that cause abnormal postures or twisting movements. Dystonia typically has a twisting pattern, but may also produce tremor and/or pain. It is usually initiated or worsened by voluntary action.

It is a little known neurological disease, even in medical circles, so its diagnosis and treatment is often delayed. It is common for patients with dystonia to have consulted traumatologists, rheumatologists, physiotherapists and neurologists before a proper diagnosis is reached. It is a disease that can be very disabling and has a significant social stigma attached to it. Also, because the symptoms are very striking from an aesthetic point of view, it can have an impact on both work life and social relationships and, therefore, significantly affect quality of life.

TYPES OF DYSTONIA

Dystonia can affect movement, posture, but also speech or vision. There are focal forms that affect only one part of the body, for example, the eyes, causing excessive blinking (blepharospasm), the neck, producing a sustained torticollis (cervical dystonia) or the vocal cords (laryngeal dystonia) which will produce dysphonia. In this section we find occupational dystonia, related to the repetition of certain movements for years, such as musician’s dystonia or scribe’s cramp.

There are also generalized forms that are usually more disabling, as they can affect the trunk and legs.

Spasm of the scribe / Cervical dystonia.

DIAGNOSIS

The causes of dystonia are very varied (there are more than 100 causes), the diagnosis is based on an adequate history and clinical examination for its correct classification and to obtain the best diagnostic and therapeutic approach.

There are genetically conditioned forms, others are a consequence of brain lesions, autoimmune diseases, exposure to certain drugs and others are idiopathic (without known cause). The most frequent dystonia in adults is isolated focal dystonia, which in most cases is idiopathic. In these forms it is not necessary a study with exhaustive complementary tests.

TREATMENT

The treatment will depend mainly on whether it is a focal dystonia (localized to a group of muscles) or a generalized one.

In case of focal dystonia, treatment is based on the identification of the muscles involved in the aberrant postures and their relaxation by means of electromyography-guided infiltrations of botulinum toxin.

In the case of generalized dystonia, which can also be useful in focal dystonia, pharmacological treatments such as trihexyphenidyl, clonazepam, baclofen and sometimes levodopa are indicated. In cases of disabling generalized dystonia, surgical treatment by deep global stimulation of the globus pallidus internus has been shown to improve quality of life.