Dystonia

Dystonia is a rare disorder that affects only one percent of the total population. It is used to describe a neurological dysfunction that affects your muscular system which leads to sustained involuntary muscle contractions. These contractions can be repetitive and painful causing abnormal body postures. With dystonia, people may face physical and social challenges. However, your doctor would prescribe certain medications that manage your muscle contractions.

Causes

The cause of dystonia remains unclear. It is believed that dystonia may occur due to abnormal neurotransmission in the basal ganglia and brainstem. Basal ganglia are responsible for initiating the muscle contractions in your body.

Dystonia may also result from other disease conditions that include Parkinson's disease, Huntington's disease, Wilson's disease, traumatic brain injury, birth injury, brain tumor, oxygen deprivation, and infections such as tuberculosis, and encephalitis.

Risk factors

People who have a mutated gene called DYT1 are at an increased risk of getting some types of dystonia.

Types of Dystonia

Dystonia is classified based on two main factors that include the part of the body affected and the underlying cause.

1. Based on the body part affected:

  • Focal dystonia is restricted to one area of the body and may affect neck (cervical dystonia), jaw/mouth/lower face (oromandibular dystonia), eyes (blepharospasm), vocal cords (laryngeal dystonia), or arms/legs (limb dystonia).
  • Segmental dystonia affects a minimum of two body parts that are close to one other. It commonly affects eyelids, mouth, jaw, and lower face.
  • Multifocal dystonia affects two or more body parts that are distant from one another.
  • Hemidystonia affects half of your body.
  • Generalized dystoniabegins with leg involvement and then spreads to one or more regions of the body.

2. Based on the underlying cause:

  • Primary or idiopathic dystonia may occur as a result of genetic mutations.
  • Segmental dystonia affects a minimum of two body parts that are close to one other. It commonly affects eyelids, mouth, jaw, and lower face.
  • Secondary dystonia Secondary dystonia may occur due to environmental factors such as exposure to carbon monoxide; underlying conditions such as brain tumors, and certain medications.
  • Heredodegenerative dystonia may result from neurodegenerative disorders where heredity may be a cause.

Symptoms

The symptoms of dystonia include the following:

cal dystonia: Contractions may cause painful twisting of your head and leaning to one side, or pulling forward or backward.

Eyelids: Involuntary muscle contractions may cause dryness of our eyes, and closure of your eyelids leading to vision abnormalities.

Oromandibular dystonia: You might have slurred speech, difficulty chewing or swallowing, and drooling.

Spasmodic dystonia: You might experience a tight or whispering voice.

Complications

If dystonia is left untreated, it may lead to certain complications based on the type of dystonia. These include:

  • Physical disability
  • Functional blindness
  • Difficulty while moving the jaw, swallowing, or speaking
  • Severe pain and fatigue
  • Depression and anxiety
 

Diagnosis

The diagnosis of dystonias involves performing a physical examination and reviewing the medical history. Your doctor may also consider medication history because certain medications can cause dystonias. Your doctor might recommend few laboratory tests which help to determine the underlying condition that causes dystonia.

Blood or urine tests: These tests are performed to check the presence of toxins in the blood or urine.

Blood or urine tests: These tests are performed to check the presence of toxins in the blood or urine.

Imaging studies: Magnetic resonance imaging and computed tomography scan may be ordered to identify brain abnormalities.

Electromyography: Your doctor may suggest electromyography to measure the electrical activity in the brain.

Treatment

Botulinum toxin: Botulinum injections are considered as the most effective therapy for dystonia. Your doctor injects the toxin into the affected muscles and provides a temporary improvement in the body posture. These are injected for every three to four months.

Medications: Your doctor may prescribe certain drugs that affect the action of neurochemical transmitters. These drugs include carbidopa-levodopa, trihexyphenidyl, benztropine, tetrabenazine, diazepam, clonazepam, and baclofen.

Deep brain stimulation (DBS): Your doctor may suggest DBS when the medications do not alleviate the symptoms. It is a surgical procedure that involves implantation of electrodes into the specific brain regions that regulate the muscular movements.

Selective denervation surgery: The selective denervation involves damaging specific parts of the brain purposefully. The surgery is performed to control the muscle spasms.

Other therapies: Your doctor may suggest performing meditation and deep breathing to ease the stress due to dystonia. Sometimes, your doctor may also refer to a physical therapist or speech therapist.

Self-management

There is no cure for dystonia. But, certain lifestyle and home remedies might help to reduce the symptoms and the effects of dystonia.

  • Touching specific areas of the body may stop the muscle spasm temporarily.
  • Avoiding the stressful situations may reduce the progression of your symptoms.
  • Applying the heat or cold on the affected areas may relieve pain.