When Muscles Revolt: Understanding Dystonia, an Underrecognized Movement Disorder

When we think of a movement disorder, the tremor associated with Parkinson's disease immediately comes to mind. But there is another group of conditions, just as debilitating and much less known, that profoundly affect the quality of life of those who suffer from them. One of these is dystonia, a central nervous system disorder that can appear at any age and could affect as many as 1% of the world's population.

It is characterized by involuntary, sustained or intermittent muscle contractions, which can cause abnormal twisting movements and postures, often accompanied by pain and joint deformities. Additionally, dystonic movements may also be associated with tremor.

Dystonia usually worsens with fatigue, stress, and negative emotional states, but the condition improves during sleep and with relaxation. Its intensity can also be reduced through sensory tricks, which consist of voluntary gestures such as touching your chin or eyebrows, putting a toothpick in your mouth or a scarf around your neck.

When it comes to causes, there is a wide range of possible triggering factors. Dystonia can be hereditary, following certain genetic mutations that affect the transmission of dopamine or the circuits of the basal ganglia of the brain. There are also so-called secondary, or acquired, dystonias, which result from structural damage to the central nervous system (such as trauma, stroke, encephalitis or tumors), exposure to medications and metabolic or degenerative diseases. Finally, idiopathic dystonias, of unknown origin, are the most common.

A wide range of events

The most common form of this disorder in adults is focal dystonia, which affects a specific region of the body. In this category, the best known and most common is cervical dystonia (also called spasmodic torticollis) which affects the neck muscles and sometimes also the shoulder. It manifests itself by movements of the head from right to left (as if to say “no-no”) or up and down (as if to say “yes-yes”).

Other forms of focal dystonia include:

• Blepharospasm, which causes involuntary movements of the eyelid muscles and results in excessive blinking or involuntary closing of the eyes.
• Writer's dystonia, which affects the hand and arm during specific activities, such as writing.
• Oromandibular dystonia, which is contraction of the muscles of the lower face and superficial neck muscles (which sometimes includes tongue dystonia).
• Laryngeal dystonia or spasmodic dysphonia, which corresponds to the abnormal contraction of the muscles that regulate the closing and opening of the vocal cords and causes speech difficulties.

And as if that were not enough, in addition to the focal dystonias mentioned above, there are other varieties of dystonias: segmental dystonia, which affects two or more adjacent parts of the body (such as Meige syndrome which affects the muscles of the face, jaw and tongue); generalized dystonia, which affects most of the body, including the trunk and limbs; hemidystonia which affects one side of the body; and multifocal dystonia, localized in two or more non-contiguous parts of the body.

How to treat this disorder

Although dystonia has no cure, there are treatments that can significantly improve the patient's quality of life. It is important to have an interdisciplinary team of professionals including neurologists, physical therapists, occupational therapists, speech therapists and psychologists who specialize in movement disorders. A comprehensive approach combining medical care, emotional support and human support can make the difference and help these patients regain self-confidence.

Within these teams, physiotherapy plays a vital role. It aims to improve mobility, reduce pain and help patients manage their involuntary movements, thereby promoting their functionality and independence in their daily life.

Currently, some areas of dystonia research are interested in the development of genetic studies, new pharmacological therapies and brain stimulation interventions.

A very debilitating disease

In France (according to the Brain Institute) or in Spain (according to data from the Spanish Society of Neurology, SEN), more than 20,000 people are affected by a type of dystonia. But this figure could be much higher because it is one of the most underdiagnosed movement disorders.

(Note that the prevalence of dystonia varies depending on the regions of the world and the ethnic group, editor's note).

Dystonia is often confused with Parkinsonian tremor, essential tremor, tics, myoclonus (which corresponds to another type of rapid and involuntary movements), psychogenic movement disorder or even scoliosis.

This is a very debilitating disease. Its impact on quality of life is not only reflected in physical difficulties. Stress, anxiety and depression are common among patients, due to the chronic nature of the disease.

To give you an idea, most members of the Spanish Dystonia Association (ALDE) have a recognized average disability rate that is between 33% and 65%, and in many cases, is higher than these figures.

People with this condition tend not to talk about their condition or show themselves in social situations, making the condition even more invisible. They often live as recluses due to constant pain, emotional turmoil and social stigma.

Resources and support

For people with dystonia and their families, several organizations offer support, information and resources:

• Amadys, the French association of patients with dystonia
• Orphanet, the portal dedicated to rare diseases
• The Dystonia Medical Research Foundation (DMRF)
• In Spain there are support groups, aimed at patients and their loved ones, which help to share experiences and strategies for managing the disease.

Ultimately, dystonia remains largely unknown. Lack of knowledge and stigma associated with rare neurological disorders make early diagnosis and access to appropriate treatments difficult. Raising awareness among the general public, training health professionals and encouraging basic and clinical research are essential measures to improve the prognosis of people suffering from this disorder.