symptoms, what is this movement disorder?

Dystonias are movement disorders. Whatever their type (cervicalfunction…), dystonias often lead to motor and social handicaps severe with impaired quality of life, painsA school impact important in children and professional in adults. They can also generate anxietyA social isolation and sometimes be associated with a depression.

What is dystonia?

Dystonias are among the neurological pathologies of movement and this
characterized by involuntary muscle contractions supported or
intermittent causing repetitive movements and/or postures
abnormal.

What are the symptoms of dystonia?

Dystonia is manifested by involuntary muscle contractions and spasms. They can be localized and affect only a few muscles (focal dystonia, muscles of the face, neck, muscles of the hand, arm or leg) or the entire musculature (generalized dystonias).

“They are often triggered or aggravated by stress”

“They are often triggered or aggravated by stressthe initiation of a movement, (for example writing or walking), but can also be observed spontaneously when one is at rest, says Dr. Marion Simonetta-Moreau. Their duration can be very short, (brief muscular twitch, we speak of myoclonic dystonia), or a little longer, we then speak of spasm dystonic which can sometimes be very painful and disabling. This symptom can occur alone or be associated with other abnormal movements, (tremor example) or other neurological symptoms, (combined dystonia).”

What are the different types of dystonia?

► When dystonia affects the eyelid muscles around the age of 50-60, leading to an involuntary closure of these, we speak of blepharospasm.

► When it broadcasts to others facial muscles (mouth, jaw, larynx), we are talking about Meige’s syndrome.

► When she touches the neck muscles, We are talking about cervical dystonia.

► When it triggers only when writing with a pen, or when playing a musical instrumentWe are talking about functional dystonia.

What is autonomic dystonia?

“Dystonias should not be confused with the wrong term “neurovegetative dystonia” which should no longer be used because it is a source of confusion and which is actually what is called dysautonomia and which corresponds to a dysfunction of the vegetative nervous system which regulates digestion, breathing, the rhythm of the heart, etc. “explains the neurologist.

The diagnosis of dystonia is essentially based on data from theclinical neurological examination and history of the patient. “If there is any doubt with another type of abnormal movement, we can make a recording of the activity of the muscles by a electromyography. The realization of a blood test, an MRI of the brain will make it possible to direct towards the search for a cause and in certain cases, one can make a genetic search for a mutation“, adds the specialist.

What are the causes of dystonias?

The causes of dystonia are multiple:

► They can be hereditary and there are currently numerous genetic mutations identified in families of dystonic patients. “Some of these genetic forms where dystonia is isolated and often generalized are important to diagnose because they can benefit from effective treatment.”comments Dr. Marion Simonetta-Moreau.

► They can be secondary to brain injury, (lack of oxygen at birth, head trauma, stroke, infection, tumour) or well favored by the taking of a drug or by exposure to a toxin.

► They can also be observed during theprogression of a neurodegenerative disease such as Parkinson’s disease or related diseases or other rare diseases. In these cases, they are most often associated with other symptoms.

“In adults, when they are focal and without any other associated neurological sign, with an MRI without anomaly, (the most frequent), there is no obvious cause and in this case they result from the likely combination of genetic predisposition and environmental factors, explains the neurologist. Many research works have been carried out or are in progress to better understand the mechanisms at the origin of this affection and are financed by public bodies or Associations or Foundations such as AMADYS or the FRC.“

What are the treatments for dystonia? When to operate?

“The objectives of the treatments that can be offered to patients are to decrease the intensity of dystonic spasms, reduce pain related to dystonic postures, improve quality of life. These are most often chronic treatments that relieve but do not cure the disease“, explains the member of the Scientific Council of the Federation for Research, on the Brain. They are:

► The local injections of botulinum toxin(powerful muscle relaxant), are offered as first-line therapy in focal dystonias.

► “Surgical treatment with implantation of intracerebral electrodes delivering current in certain specific areas of the brain is rather reserved for very debilitating forms of generalized dystonia but can sometimes also be attempted in certain forms of more focal dystonias which do not respond well to injections of botulinum toxin and which are severe (cervical dystonias )“, says Dr. Marion Simonetta-Moreau.

► Drug treatments are usually only an adjuvant treatment, apart from special cases such as a rare form of genetic dystonia dramatically improved by taking a low daily dose of dopamine.

► The sessions of physiotherapy can be very useful in dystonias of the neck or the hand (method developed by Jean Pierre Bleton). “But the number of physiotherapists trained in these techniques is still insufficient in France.“, shades the specialist.

Thanks to Dr Marion Simonetta-Moreau, neurologist at Purpan University Hospital in Toulouse, member of the Scientific Council ofAMADYSthe association of patients with dystonia and member of the Scientific Council of the Federation for Brain Research, (FRC), an association whose main mission is to finance research on brain pathologies (neurological and psychiatric).