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Treating dystonia

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Childhood dystonia is progressive and debilitating, but it can be prevented with an early diagnosis and the use of specific therapies that target the genetic defect identified. Currently, several different treatments are used.

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Children's Hospital and Woman's Hospital

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Traumatology, Rehabilitation and Burns Hospital

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Description

Types of treatment

 

Levodopa trial

In children with isolated dystonia, a one to three-month long trial with levodopa must always be carried out. This medication can completely reverse symptoms when the dystonia is caused by a defect in dopamine synthesis. This is called dopa-responsive dystonia.

Such defective dopamine synthesis can be caused by alterations in the genes and proteins that regulate dopamine metabolism. This neurotransmitter is essential in learning, behaviour, and motor function.

 

Treatment with botulinum toxin

Botulinum toxin is effective at controlling focal dystonia, which affects a muscle group carrying out a specific action, such as, for example, writer’s cramp, or dystonia triggered by walking, treatment for which consists of correcting the abnormal foot or leg position when walking.

In children with generalised dystonia, botulinum toxin can also relieve pain in muscle groups that are particularly affecting the patient’s quality of life.

 

Treatment with various pharmaceuticals

To treat generalised dystonia in children, different drugs are administered to reduce the tremors, muscle tone, and painful spasms. These include benzodiazepines, GABA antagonists (baclofen), anticholinergics, and α-2 adrenergic receptor agonists. In some patients with paroxysmal dystonia, which is characterised by brief, repetitive involuntary movements at night, anti-epileptics are prescribed.

 

Surgical alternatives

 

Intrathecal baclofen pump

When oral medications are not enough, there is a surgical option: the intrathecal baclofen pump. This internal device administers the medication baclofen through a catheter placed in the epidural space (which contains the liquid that surrounds the spinal cord). This helps control generalised dystonia, reducing pain, muscle tone, and spasms and thus improving patients’ quality of life.

This device is used to treat secondary dystonia or dystonia associated with other neurological problems (whether neurometabolic, neurodegenerative, or acquired through brain damage at birth).

 

Deep brain stimulation or pallidal stimulation

This consists of placing two electrodes in the pallidal nuclei of the brain via a stereotactic procedure, to improve the patient’s motor function and quality of life. Patients who are candidates for pallidal stimulation are those with primary dystonia who have no structural brain lesions in the central nervous system.

 
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