Forms of dystonia
What is dystonia?
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Dystonia is a movement disorder when muscles contract involuntarily leading to abnormal movements which may be characterized by twitching, twisting, or stiffness.
- Dystonia is often classified by where the abnormal movements are in the body:
- ​focal dystonia: dystonia that affects one part of the body
- segmental dystonia: dystonia that affects more than one part of the body which are usually adjacent to each other
- generalized dystonia: dystonia that occurs in multiple body parts.
Blepharospasm
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Blepharospasm is a focal dystonia that causes involuntary blinking of the eyes, often forceful in nature.
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This can lead to dry eyes as well as a gravelly sensation, which can be painful to the patient.
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Severity varies from very mild to extremely severe where patients are unable to open their eyes.
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Stress and anxiety typically will make the movement worse and sometimes touching the eyelids can lead to improvement of the symptoms (sensory trick)
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treatment mainly involves botulinum injection to the affected muscles performed by a trained movement disorder specialist.
Cervical dystonia or spasmodic torticollis
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Cervical dystonia is a segmental dystonia that affects multiple adjacent muscles.
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There are several types of cervical dystonia including:
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​anterocollis: forward flexion of the head and neck
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retrocollis: extension of the head and neck backward
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laterocollis: lateral flexion of the head and neck either to the left or right
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torticollis: turning of the head and neck either to the left or right
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*cervical dystonia often includes more than one of the above movements
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​sometimes, the movement or combination of movements can create a jerky tremor that typically gets better in one position.
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There is often a sensory trick as touching the face makes the movements better.
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This type of dystonia is often painful.
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Treatment for cervical dystonia involves botulinum injections by a trained movement disorder specialist in the affected muscles to selectively weaken the muscles promoting increased range of motion, less pain, and normalcy.
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The movement disorder specialist will often use a portable EMG machine (allows the clinician to monitor muscle activity) to ensure the injections are located in the correct muscle.
Hemi-facial spasm
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Hemifacial spasm is often and voluntary spasms or contractions of one side of the face.
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Typically, spasms will occur as a result of irritation to the seventh cranial nerve or could also occur without any apparent reason.
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Typically there are multiple muscles infected including the eyelid, forehead, cheek, mouth, or neck.
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Occasionally, the movement disorder specialist will order an MRI of the brain to further evaluate the region close to the seventh cranial nerve.
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Treatment involves botulinum injection by a trained movement disorder specialist.
Dystonia of the hand
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Dystonia can also occur specifically in the hand often described as a writer's cramp or musicians cramp.
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In this condition, muscles will involuntarily move making it difficult to have fluid and natural movement of the hand.
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Symptoms typically appear when the patient is trying to do a task with fine motor skills such as writing or playing an instrument.
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Treatment often involves botulinum injection by a trained movement disorder specialist but may also include occupational therapy.
Oromandibular dystonia
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Oromandibular dystonia is a segmental dystonia that often affects more than one muscle of the face and may include the masseters (close the mouth), the pterygoids (open the mouth), temporalis (assist in closing the mouth) and other facial and neck muscles.
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Treatment often includes botulinum injection by a trained movement disorder specialist but may also include medications.
Spasmodic dysphonia
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Spasmodic dysphonia is a form of dystonia that affects the vocal cords
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many times, the patient's speech is affected and may sound strained or have several breaks/interruptions in speech disrupting the natural sound.
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Some varieties of spasmodic dysphonia also involve a whispering quality to the speech.
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Treatment may include speech therapy by a trained speech pathologist and/or botulinum injections by a trained specialist.
Generalized dystonia
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Generalize dystonia often affects multiple body regions and often begins during early childhood.
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The most common genetic mutation leading to generalize dystonia is a DYT-1 mutation but there are several more that are still unknown.
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Symptoms typically begin and a leg and spread throughout the remainder of the body over time often leading to painful twisting and involuntary movement.
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Diagnosis is also made not only by the physical exam but also through blood work such as genetic testing as well as imaging such as MRI of the brain.
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Treatments may include botulinum injection, deep brain stimulation (DBS), medications, physical therapy, occupational therapy