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Dystonia

The term dystonia was coined by Herman Oppenheim a prominent neurologist of Germany in 1911 in a paper describing a new condition.

Oppenheim was presented with 4 unrelated children displaying symptoms that he had never previously seen.  Features that were observed in these children were:
  • Muscle spasms affecting limbs and trunk that resulted in twisted postures, particularly lordosis and scoliosis on standing
  • Worsening on walking and sometimes with markedly flexed spin that reminded Oppenheim of a dromedary
  • Movements could be rapid and also rhythmic
  • The symptoms progressed, leading eventually to sustained fixed postural deformities
  • Muscle tone could be hypotonic at one occasion and with tonic sustained muscle spasms at another, usually but not exclusively elicited on volitional movements
  • The absence of weakness, atrophy, sensory loss, impaired perception, sphincter disturbances, significant psychological abnormalities or alteration of electrical excitability

After the paper was published, neurologist around the world recognized the condition in their similar cases and began using the term dystonia musculorum deformans. 1

Many healthcare professionals are not familiar with dystonia and may confuse the symptoms with other diseases such as cerebral palsy or may even mistake the symptoms as being psychogenic. There are many stories from those suffering from dystonia that describe frustration in obtaining a proper diagnosis.  There are some stories of some suffering for years due to having a treatable form of dystonia, but did not receive the treatments due to mis-diagnoses. 2

Types of Dystonia

Patients' signs and symptoms will depend mainly on the type of dystonia they have. Below are some common examples:

Cervical dystonia - also known as toricollis; the most common form. Cervical dystonia affects only one body part (focal dystonia) and generally starts later on in life (late-onset dystonia). The neck muscles are affected. The patient may experience:
  • Twisting of the head and neck
  • Pulling forward of the head and neck
  • Pulling backwards of the head and neck
  • Pulling sideways of the head and neck.
Patients may experience mild to severe symptoms. If muscle spasms and contractions are frequent and severe enough, the patient may also experience stiffness and pain.
Experts are not sure why, but say that touching the chin, neck or back of the head can often relieve symptoms considerably.

Blepharospasm - the muscles around the eyes are affected. This is a focal (just one part of the body is affected), late-onset type of dystonia. The patient may experience:
  • Photophobia (sensitivity to light)
  • Irritation in the eye(s)
  • Excessive blinking, often uncontrollable
  • Eyes close uncontrollably. Patients with severe symptoms may find it impossible to open their eyes for several minutes.
Signs and symptoms may become more and less severe depending on what time of day it is. The majority of patients find that symptoms worsen as the day progresses.

Dopa-responsive dystonia - a type of generalized, early-onset dystonia (both legs and other parts of the body are affected, onset occurs from ages 5 to 30 years). This type of dystonia responds well to levodopa, a dopamine medication - hence the name.
Typically, a patient will experience symptoms between 6 and 16 years of age. The most common symptom is a stiff, unusual walk, with the sole of the foot bent upwards. In some cases the foot may turn outwards at the ankle.
Muscle stiffness and spasms in the arms and torso is not uncommon.

Hemifacial spasm - This is a focal (just one part of the body is affected), late-onset type of dystonia. The patient experiences spasms in the muscles on one side of the face. Symptoms may be more prominent when the individual is under mental stress or physically tired.

Laryngeal dystonia - This is a focal (just one part of the body is affected), late-onset type of dystonia. The muscles in the voice box (larynx) spasm. The larynx muscle spasming may be inwards or outwards.
Patients may sound very quiet and breathy when they speak, or strangled - depending on which way the muscle spasm.

Myoclonus dystonia - this is a segmental, late onset dystonia (occurs after 40 years of age, two or more body regions are affected). The arm, neck and torso muscles are affected. Patients with spasms may look as though they are receiving an electric shock (sudden, jerky movements).

Onmandibular dystonia - this segmental, late-onset type of dystonia affects the jaw and mouth muscles. The patient's mouth can pull outwards and upwards.

Some patient will only have symptoms when the muscles of the mouth and jaw are being used, while others may experience symptoms even at other times (when muscles are not in use). Often, patients with symptoms when their mouth and jaw muscles are not being used may experience relief when talking or chewing.

Some patients may have dyphagia (problems swallowing).

Writer's cramp - the patient experiences uncontrollable cramps and movements in the arm and wrist. It is a late-onset, focal type of dystonia. This is a task-specific dystonia, because most patients already to a lot of writing before onset of symptoms appear.
Other task-specific dystonias:
  • Musician's cramp
  • Typist's cramp
  • Golfer's cramp
Generalized dystonia - patients are usually children at the beginning of puberty. Hence, it is an early-onset dystonia. Symptoms generally are felt in one of the limbs, and eventually spread to other parts of the body.

The patient may experience:
  • Muscle spasms
  • An abnormal, twisted posture, due to contractions and spasms in the limbs and torso
  • A limb (or foot) may turn inwards
  • Parts of the body may suddenly jerk rapidly

Paroxysmal dystonia - muscle spasms and abnormal body movements only happen at specific moments; otherwise the patient has no symptoms at all (at other times). It is a rare type of dystonia.
Signs of paroxysmal dystonia may resemble those of epilepsy during a seizure (fit). When symptoms come on suddenly, they are known as an attack. Only the muscles are affected during an attack. The patient does not lose consciousness, and will be aware of his/her surroundings, unlike a patient with epilepsy. An attack can last for just a few minutes; and in some cases may persist for several hours. The following triggers may bring on an attack:
  • Mental stress
  • Tiredness (fatigue)
  • Consuming alcoholic beverages
  • Consuming coffee
  • A sudden movement 3

Education about Dystonia

To learn more about dystonia types, symptoms and treatment options take our online continuing education course Understanding Dystonia.  The author Kevin Stansbury has partnered with the Dystonia Medical Research Foundation, to make all proceeds from this CE course donations to help fund research and treatments of this disorder.

Learn more about Dystonia- and help a good cause, click the course title here: Understanding Dystonia

References

1 Wiley Online Library http://onlinelibrary.wiley.com/doi/10.1002/mds.25546/full
2 New England Journal of Medicine http://www.nejm.org/doi/full/10.1056/NEJMra055549
3 Medical News Today http://www.medicalnewstoday.com/articles/171354.php

Posted: 7/7/2015 12:45:23 PM
Comments
Comments
Greg Grambor
Add to the list of task-specific dystonias telegraphers' "glass arm". This cramping of the hand, wrist and arm would occur after long sessions at the telegraph key by Western Union and other company's telegraph operators. Although telegraphy is no longer used for public communications, this dystonia is still experienced today by ham radio operators who prefer to use radio telegraphy over radio telephony in the pursuit of their hobby.
10/9/2015 3:21:34 PM

Capra
Thanks for posting the information and links Steve.
9/10/2015 2:35:38 PM

Steve Zarren
Since September is Dystonia Awareness Month I want to make everyone aware of the program I have been successfully utilizing for over 4 years to help hundreds of dystonia sufferers, all over of the world, improve the quality of their lives. To read their inspiring stories go to www.dystoniahealthadvocate.com. I would greatly appreciate you sharing this valuable information during Dystonia Awareness Month.
9/10/2015 11:41:01 AM

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