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Dystonia symptoms, causes, diagnosis and treatment
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                                                                        Dystonia

The uncontrollable contraction of muscles causes the affected part of the body to twist, which results in repetitive movements. This condition is known as dystonia. It results in abnormal postures as it affects a single, a group of muscles, or the entire body.

Depending on the parts affected, dystonia is of the following types:

  • Focal dystonia: Single regions such as hands, eyes are affected in focal dystonia. Examples: cervical, blepharospasm, writer’s cramp and laryngeal dystonia.
  • Task-specific dystonia: Specific activities such as writing are affected in task-specific dystonia.
  • Segmental dystonia: Two or more regions of the body that are linked are affected in segmental dystonia. Example: cranial dystonia (blepharospasm affecting the tongue, jaw and lower face).
  • Multifocal dystonia: Two or more regions of the body that are not connected are affected such as left leg and left arm in multifocal dystonia.
  • Hemidystonia:  One entire side of the body is affected in hemidystonia.
  • Generalized dystonia: The trunk part or at least two parts of the body are affected in generalized dystonia.

Symptoms 

Dystonia symptoms range from mild to severe symptoms. The symptoms progress through various stages of dystonia. 

The symptoms of dystonia are:

  • Cervical dystonia or torticollis is characterized by head twisting towards one side, causing pain.
  • Blepharospasm is characterized by rapid eye blinking, dry eyes, and these symptoms increase under stress and light.
  • Oromandibular dystonia is painful and the patient experiences slurred speech, drooling, difficulty in chewing and swallowing.
  • Spasmodic dystonia is characterized by tight or whispering voice.
  • Generalized dystonia is characterized by muscle spasms, twisted posture, foot or leg turning inwards, body parts jerking rapidly.
  • Segmental dystonia is characterized by symptoms such as shaking spasms (myoclonus) just like in the case of shocks.
  • Focal dystonia is also characterized by task-specific related activities such as writer’s cramp affecting the hand during writing, musician’s dystonia that affects the hand while playing music.
  • Paroxysmal dystonia is an episodic type of dystonia that may be intermittent.   

Causes

Dystonia can be caused by genetic mutations (primary dystonia) or can be a symptom of any other underlying health condition (secondary dystonia). 

Primary dystonia is the dystonia that runs through families. The culprit is an abnormal gene, and the pattern is called as an autosomal dominant pattern. The gene mutation is passed on through generations, and anyone of the offspring (child) suffers from dystonia when the parents have it.

Secondary dystonia or dystonia that is a symptom of underlying health conditions such as:

  • Parkinson’s disease
  • Huntington’s disease
  • Wilson’s disease
  • Multiple sclerosis
  • Cerebral palsy
  • Brain stroke
  • Brain injury
  • Spinal cord injury
  • Brain tumors
  • Carbon monoxide poisoning
  • Infections like encephalitis, tuberculosis and HIV
  • Medications reactions
  • Oxygen deprivation

Diagnosis

The physician does a physical examination and records the medical history of the patient. The doctor may recommend the following diagnostic tests which include:

  • Blood and urine analysis identifies any infections or abnormalities that may hinder the functioning of the organs.
  • Genetic testing identifies any abnormalities in the genes (blood sample) and confirms whether dystonia is caused due to any genetic condition.  
  • MRI scan identifies the presence of tumors or any damages caused in the brain.

Treatment

Treatment of dystonia helps in providing relief from the symptoms, pain, and discomfort. The treatment options for dystonia are:

Medications

  • Botox injections are administered every three to four months to reduce muscle contractions and improve abnormal postures. These injections are useful in treating focal dystonia and segmental dystonia.
  • Anticholinergics are the drugs of choice to treat muscle spasms by blocking neurotransmitter acetylcholine that causes the muscles to move.
  • Muscle relaxants are the drugs which provide relief to the muscle contractions by increasing the level of the neurotransmitter GABA.

Therapies

  • Speech and language therapy is the therapy given for laryngeal dystonia which causes speaking difficulty.
  • Physiotherapy includes exercises that help in maintaining a good body posture and prevents  shortening and weakening of the affected muscles.   

Surgery

  • Selective peripheral denervation is a surgery performed by cutting the nerves connected to the affected muscle to provide relief from cervical dystonia.
  • Deep brain stimulation (DBS) is a surgery performed by implanting a device that sends signals to the brain. The electrodes which are placed in the brain are connected to small pulse generator, which is similar to a pacemaker. This helps in improving the body posture and reduces involuntary body movements.  

Complications

The complications associated to dystonia are:

  • Depression
  • Anxiety
  • Social withdrawal
  • Pain and fatigue
  • Physical disabilities
  • Difficulty with swallowing, speech, and jaw movement
  • Functional blindness affecting the eyelids

Complications associated with the treatments

The side effects associated with treatments are:

  • Dysphagia
  • Double vision
  • Constipation
  • Dry mouth
  • Blurred vision
  • Memory problems
  • Confusion
  • Drowsiness
  • Nausea
  • Balance and coordination problems
  • Tremors
  • Anxiety
  • Additional surgeries
  • Occasional short episodes of neck pain

Self-management

The following lifestyle modifications may give relief from dystonia. These are:

  • Avoiding stressful situations
  • Applying hot or cold compress
  • Joining a support group
  • Following a healthy lifestyle

 

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