Dystonia

Dystonia is a general term for disorders in the movement of voluntary muscles that results in unusual involuntary contractions that may be intermittent or persistent. Dystonic movements usually involve twisting (sometimes into unusual positions or postures) and they may resemble a tremor.

Many movement disorder  syndromes include dystonia symptoms, but dystonia itself (unlike some other movement disorders that have dystonia as one of their symptoms) do not impact cognition, intelligence or life span. Dystonia can strike at any age and there is no cure or universally effective treatment.

Dystonia may be classified by the number of muscle groups it affects. 

• Focal dystonia is limited to one area of the body.
• Segmental dystonia affects two or more connected parts of the body (like head and neck). 
• Multifocal dystonia affects two or more non-connected parts of the body.
• General dystonia affects the entire body. 

Dystonias may also be classified in other ways:

• The part of the body affected:
  
  • The muscles of the eyelids and brow (blepharospasm)
  • The neck and sometimes the shoulders (cervical dystonia or spasmodic torticollis)
  • The face, jaw, and/or tongue (oromandibular or cranial dystonia)
  • The vocal cords (spasmodic dysphonia or laryngeal dystonia)
  • The hand and/or forearm (hand dystonia or writer's cramp)
  • The foot and/or leg (lower limb dystonia)
• A specific task affected such as the ability to play a musical instrument (musician’s dystonia)
• Early-onset twisting of the limbs and torso (a generalized dystonia with or without the presence of a certain gene DYT1 and non-DYT1)
• Resemblance to other conditions or diseases:
  
  • Responding to the Parkinson’s disease (PD) medication levodopa (dopa-responsive dystonia)
  • A hereditary dystonia with prominent myoclonus symptoms (myoclonus dystonia)
  • Episodic movement disorders in which abnormal movements occur only during attacks (paroxysmal dystonia and dyskinesia)
  • A hereditary dystonia with symptoms of PD that affects males much more often than females (X-linked dystonia-parkinsonism)
  • A hereditary dystonia with symptoms of PD (rapid-onset dystonia-parkinsonism)
• Secondary dystonia:
  
  • Trauma to the head and/or to a specific body area
  • Medications (tardive dystonia and dyskinesia)
  • Toxins (poisons)
  • Some neurological and metabolic disorders
• Psychological (psychogenic dystonia)

Symptoms may be more pronounced or frequent when you are tired.

Diagnosis of Dystonia
Three things are necessary to diagnose dystonia:

• Your report of your signs and symptoms
• Your complete medical history, including any family history of dystonia, previous head injury or stroke or exposure to toxins or drugs
• The physical and neurological examination by a neurologist

Dystonia may be diagnosed based on whether it is the only neurological disorder that you have.

• Primary dystonia means that the dystonia is the only neurological disorder you have. Primary dystonia may be genetic (cervical dystonia, myoclonus and some forms of parkinsonism) or it may be idiopathic (with no clear cause). 
• Secondary or acquired dystonia typically results from factors such as exposure to certain medications, toxins, infections or stroke, as well as injuries to your head or spinal cord. 

Our team will complete a physical exam to try to determine whether your condition is primary or secondary dystonia. We will also determine several other factors to complete the diagnosis:

• Your age at symptom onset
• How many muscle groups are affected
• Whether the affected muscle groups are connected
• What the cause may be (genetic, environmental or unknown)
• If it occurs with symptoms of other neurological disorders

Treatment Options for Dystonia
At present, there are no medications or procedures to cure dystonia; treatments are designed to help lessen your symptoms of muscle spasm, pain and awkward postures. 

• To help control movements, deep brain stimulation (DBS) has been used for dystonia (and essential tremor and Parkinson’s disease). DBS involves surgically implanting small electrodes into the brain regions that control movement; the electrodes are connected to a pulse generator. 
• Several classes of drugs affect various neurotransmitters; this can be effective for certain forms of dystonia for a limited period of time. 
• Botox® (Botulinum toxin) injections are an effective treatment for focal dystonia.
• Speech or voice therapy can help lessen spasmodic dysphonia.
• Physical therapy is used to help the brain augment the neural pathways it uses to control movement.
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Our ultimate goal is to improve the quality of your life and help you maintain bodily functions.