Dystonia is a movement disorder that causes involuntary, repetitive muscle contractions, making the body spasm and twist in awkward ways.
Because dystonia can affect muscles in any part of the body, symptoms vary depending on the affected body part:
- Eyelid: Causes rapid blinking and spasms that cause your eyes to close, often triggered by exposure to bright lights or stress.
- Hand and arm: Interferes with your ability to write or play musical instruments.
- Neck: Causes your neck to turn to one side or pull forward and backward.
- Larynx (voice box): Causes strangled voice, altered pitch, or whispering.
- Entire body: Rare type of dystonia that typically affects children, causing spasms in the legs when walking. It then spreads to other parts of the body, sometimes affecting the entire body and leading to disability.
How serious is dystonia?
Dystonia rarely turns life-threatening, although it can result in severe disability if it begins in childhood.
In adults, dystonia is mostly limited to a single muscle or muscle group. It can spread to nearby muscles but is unlikely to become generalized.
Symptoms of dystonia can strike any time, and it is hard to predict when they will occur. Dystonia may disappear on its own and then return with no identifiable reasons.
What causes dystonia?
While the exact cause of dystonia is unknown, it may involve changes in communication between the nerve cells in several areas of the brain. Possible causes include:
- Brain damage
In some cases, dystonia is idiopathic, meaning that it does not have a cause that can be identified such as structural damage or degenerative changes in the brain.
How is dystonia diagnosed?
Your doctor may diagnose the condition after asking about your symptoms and performing a neurological exam. They may also order tests to rule out other conditions, such as stroke:
- Blood test
- Urine tests
- Cerebrospinal fluid test (by spinal tap)
- Magnetic resonance imaging or computed tomography scans
If your dystonia started during childhood or someone in your family has the condition, your doctor may order genetic testing.
How is dystonia treated?
Currently, there is no treatment that can cure dystonia. Available treatment options only help relieve spasms and vary depending on the type of dystonia present:
Botulinum toxin injections
Your doctor may administer an injection of botulinum toxin, which is produced by bacteria that cause food poisoning. When given in controlled doses one every 3 months months, the toxin can reduce repetitive spasms in the muscles.
Some medications affect neurotransmitters or chemicals in the brain that are responsible for muscles movements:
For pain relief, baclofen may be prescribed off-label to treat dystonia. This medication is taken orally, but an intrathecal baclofen pump may be an option in severe cases. The pump is a round metallic disc that is surgically implanted under the skin of the abdomen. It is connected to a catheter that brings the medication from the pump into the spinal fluid.
- Deep brain stimulation: This procedure involves implanting electrodes in the brain and connecting them to a generator implanted on the chest. Electrical pulses are sent from the generator to the brain to disrupt the brain signals causing muscular contractions.
- Selective denervation: This procedure involves cutting the nerves that control muscle contraction and may be performed if other therapies are not effective.
- Physiotherapy: Improves muscle function and reduces symptoms
- Speech therapy: Recommended if the muscles that control your voice are affected by dystonia
- Stretching or massage: Helps reduce spasm-related pain
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