What does it look like and what forms are there?
With dystonia, muscles that normally work in turn simultaneously tense, so the movement becomes twisting and slow, and the posture becomes fixed. Forms are divided according to the number of zones involved. Focal affects one area: most often the neck, eyelids, hand or vocal cords. Segmental involves two adjacent areas, generalized - the trunk and limbs. An important feature of dystonia is a corrective gesture: a light touch on the chin or cheek temporarily reduces spasm, which is not typical for other disorders.
- Cervical dystonia - the head turns or tilts
- Blepharospasm - involuntary squinting of the eyelids
- Writer's cramp and dystonia of musicians - with a specific action
- Oromandibular dystonia – jaw, tongue, lower face
- Spasmodic dysphonia—choked, intermittent voice
- Generalized dystonia - trunk and limbs
Causes and risk factors
Primary dystonia is associated with disruption of the subcortical nodes of the brain, which regulate the accuracy of movements; however, there are no structural changes in the images, and in some patients hereditary mutations are found. Secondary dystonia has a specific cause: a stroke, birth trauma, traumatic brain injury, poisoning, as well as taking medications - antipsychotics and some antiemetics. In young people, Wilson's disease, in which copper accumulates in the body, must be excluded: this condition can be treated if detected in time.
- Hereditary forms, family cases
- Neuroleptics, antiemetics, some drugs for dizziness
- Stroke and brain injuries
- Cerebral palsy and labor hypoxia
- Wilson's disease and other metabolic diseases
- Occupational overload due to repetitive movements
Symptoms
The onset is usually gradual: at first, spasms appear only during a certain activity - writing, playing an instrument, walking - but at rest everything is normal. Over time, tension arises in other situations, and a nagging pain in overloaded muscles and trembling are added. Complaints intensify with excitement, fatigue and in public, decrease after sleep and rest. Many patients intuitively find techniques that ease the spasm: holding their chin, resting the back of their head, putting their hand on their cheek.
- Involuntary twisting movements and frozen postures
- Increased with stress and anxiety, relief after sleep
- Corrective gestures that temporarily relieve spasm
- Trembling in the involved area
- Pain and tightness of overstrained muscles
- Difficulties with writing, speaking, swallowing depending on the form
Diagnostics
The main tool is a careful examination by a neurologist: the specialist evaluates the nature of movements, the presence of corrective gestures, the participation of neighboring muscles, and how the picture changes with different poses. The list of medications taken, history of injuries and family history are clarified. An MRI of the brain is needed to rule out a structural cause, especially if it is secondary. In patients under 45 years of age, copper metabolism is checked to exclude Wilson's disease, and genetic testing is added if necessary. ENMG helps to clarify which muscles are involved and to plan injections.
- Detailed neurological examination and video recording of movements
- Analysis of medications taken
- MRI of the brain
- Ceruloplasmin and copper in early onset of the disease
- Electroneuromyography for muscle mapping
- Examination by an ophthalmologist for eyelid lesions
Treatment and daily life
It is not yet possible to completely cure primary dystonia, but it can be controlled well. For focal forms, the method of choice has become injections of botulinum toxin into the affected muscles: they relax the spasm for several months, after which the procedure is repeated. For generalized forms, tablet drugs of several groups are used, and in some patients with severe cases, deep brain stimulation is used. Rehabilitation plays an important role: special exercises, stretching, working with posture, massage of overstrained muscles. In case of drug-induced dystonia, the first step is to discontinue or replace the drug, which can only be done by a doctor.
- Botulinum toxin injections for focal forms
- Tablet drugs selected by a neurologist
- Discontinuation or replacement of the drug that caused dystonia
- Physical therapy, stretching, posture correction
- Massage and physiotherapy for overworked muscles
- Deep brain stimulation for severe cases
- Treatment of Wilson's disease when it is detected