Diseases > Dystonia
Dystonia is a rare disease
It is characterized by the sustained and involuntary posture of a muscle or muscle group. It can be localized or generalized.
Dystonia is the involuntary and sustained posture of a muscle. When it occurs in a muscle of the face or the skull it is called cranial dystonia. The involuntary closure of the eyelids, or dystonic blepharospasm, is frequently seen.
Although generalized dystonias are more common in children and focal dystonias in adults, they can take affect at any age. For example, we can see generalized dystonias in adults with traumatic brain injury due to lack of oxygen in the brain.
If the dystonia occurs in the eyelids it will cause their involuntary closure. If dystonia occurs in the muscles of the neck, there is usually a deviation of the position of the head, often accompanied by pain. If dystonia occurs in all muscles of the body, in a generalized way (as occurs in children), there are spasmodic movements of the head, arms, legs and trunk, which lead to complete incapacity for the patient. It can also occur in the muscles of the forearm and create great difficulty in writing, what is known as a writer´s paralysis, in addition to other symptoms in other parts of the body that will depend on the affected muscles.
It may have a genetic origin, such as generalized dystonias in children of type DYT1. It can also be caused by external factors, such as traumatic brain injury or cerebral hypoxia. However, the origin of focal dystonias, which are associated with disorders in brain neurotransmitters, is unknown.
Generalized dystonias begin in childhood and usually increase progressively. They usually cause a high degree of incapacity at maturity.
Focal dystonias usually appear after the fourth decade of life. Despite not being incapacitating, they often create serious problems for patients. For example, people affected by laryngeal dystonias have a voice that in many cases makes it impossible for them to communicate.
Dystonias have been known since very remote times. In some medieval paintings you can see children with abnormal postures that are reminiscent of generalized dystonia. There have been few medical advances in the treatment of this disease, particularly in the generalized form. The occurrence of botulinum toxin in the treatment of focal dystonias and stereotactic surgery (such as deep brain stimulation of the globus pallidus) in generalized dystonia can be regarded as historical landmarks.