Dystonia is a term that refers to involuntary, spasmodic, and sustained muscle contractions. It involves both the contraction of agonist and antagonist muscles. These movements are usually sustained, slow, repetitive, and patterned. However, in some cases, it can fluctuate and become unpredictable.
The frequent abnormal twisting and posturing can be painful for patients with dystonia. It is also a disabling and debilitating issue that greatly impacts the quality of life. It can have a significant impact on the vocational, personal, and emotional life of the individual, resulting in loss of independence and constant need of assistance.
The management of dystonia may involve oral medications, rehabilitative therapies, surgery, and neurochemolytic interventions. The availability of counseling and support groups can also be beneficial for patients. Dystonic disorders can have a chronic course and lead to persistent disability. Since different dystonic disorders have different treatment, the distinction of the different types of dystonia is crucial. Dystonia can be classified based on etiology, age of onset, and anatomical distribution.
Cause #1: Primary or Idiopathic Dystonia
Primary or idiopathic dystonia occurs sporadically and can be seen in autosomal recessive, autosomal dominant, or X-linked recessive disorders. Childhood onset dystonia that is hereditary is quite commonly seen among the Ashkenazi Jewish population.
Currently, there are at least 12 types of dystonia that can be differentiated based on genetics. The identification of these genes may help with the understanding and treatment of these disorders.