What is Dystonia:

Dystonia is a neurological disorder in which the whole body or a body part goes in to abnormal twisted posture. There may at sometimes be some jerky movements or tremulous movement associated with these abnormal postures.

What happens in Dystonia:

Dystonia is caused by continuous or intermittent simultaneous contractions of muscles, which act in opposite manner or similar manner.

What is the cause of Dystonia

The actual case of Dystonia is imbalance of chemicals in that part of brain, which regulates movements. It can be cased by

  1. Genetic factors
  2. Infection
  3. Tumor
  4. Injury to brain
  5. Brain injury due to impaired blood supply at the time of birth
  6. Vascular cause: when there is a small stroke affecting the special part of brain (basal ganglion) which controls movements
  7. Unknown

What is the basis of Dystonia:

As Dystonia is disease of brain, it is caused by some problem in brain. In majority of cases there are cause of dystonia such as tumors, lack of blood supply, infection or bleeding, and in those cases it is caused by imbalance of chemicals in the brain, which may be caused by some unknown factors. Genetic factors play a role in a large majority of cases. In rare cases it may be caused by a tumor, infection or stroke.

What are the types of Dystonia:

Dystonias are of different types.  Please see below:

  • There are some dystonias, which involve the whole body (generalized dystonia).
  • There are some dystonias which involve a single part of body (these are focal Dystonias) or two contiguous parts of body (segmental dystonia) or several distant parts of body (multi- focal dystonia) or whole body (generalized Dystonia).
  • 2A)  Focal Dystonia:These are those dystonias which involve a localized part of body. Most often focal dystonia do not have a cause and are generally genetic in nature.Following are the types of focal dystonia:
    1. Cranial Dystonia (these involve head region).

    For example, it can involve only eyelids

    (blepharospasm), jaw only (oro-mandibular–

    dystonia), tongue only (lingual dystonia ),

    Speaking (spasmodic dysphonia). Sometimes

    they can occur in combination like eyes, jaws

    and tongue

    1. Neck (Cervical dystonia or spasmodic torticollis):

    In this type the neck goes backwards (retrocollis),

    forwards (antecollis) is shifted side wards(latero

    collis) or the neck is rotated either right side or left side (spasmodic torticollis).

    • Arm usually dystonia involving arm or upper limb occurs while doing some activity like writing, using key board, playing musical instruments: violin, sitar, or golf or tennis.

    In that case it is called as Task Specific Dystonia or writer’s cramp, musician cramp, golfer’s camp, tennis player’s cramp, etc.

    1. Leg (Crural Dystonia): these involve the legs. They are very rare. In children dystonia, which starts in legs usually, spreads to involve the whole body. In adults leg dystonia is usually secondary to a known cause (secondary) dystonia eg. Parkinson’s disease, head injury etc.

    2B) Segmented Dystonia

    Segmented dystonia is the term used when 2 contiguous body parts are involved in dystonia. Examples are:

    • Dystonia of neck and arm.
    • Oromandibular along with cervical dystonia.
    • Face along with neck etc.
  • There are some dystonia for which a cause is known in others cause is not known. Hence we draw two groups such as:

3a) Primary dystonia (dystonia with no cause)

In this category genetic factor are involved which may be apparent or not. These genetic factors result in imbalance of chemicals.

3b) Symptomatic dystonia (in this dystonia occurs due to another factor which is known. For example dystonia can occur due to:

  • Wilson’s disease
  • Huntington disease
  • Some metabolic disease like, hypo-parathyroidism or hyper-parathyroidism etc.
  • Or it can happen when there is lack of blood supply, oxygen supply or bleeding in a focal part of brain.

 

Dystonia affects one’s life from almost no problems to significant disabilities. It can limit person’s social life by social embarrassment, anxiety, depression or can cause ‘functional vision loss’ due to excessive eye blinking, can affect driving abilities or could affect specific tasks (like writing) or all activities of daily living which include, eating, hygiene, speaking, swallowing, and walking /balance. Pain also affects day-to-day works and hence reducing work output.

Dystonia can be treated with various drugs. Currently the most effective way of managing is utilization of botulinum toxin (commonly recognized by the name BOTOX) to reduce undue muscle activity. Botulinum toxin injections is the current first line of treatment in these disorders. Botulinum toxin injections give significant symptomatic benefits for patients. Surgical options are available to the patients who are not effectively responding to medications/botulinum toxin therapy. The current standard of surgical therapy is Deep Brain Stimulation (also well known as DBS), which has changed the management approach in severely disabled dystonic patients. In addition to DBS other surgical therapies are also avaialble based upon clinical status of the patient.