Spasmodic Torticollis / Dystonia

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Resources

  • Spasmodic torticollis. The condition is also referred to as "cervical dystonia".
  • Dystonia from the Parkinson's Foundation.  New
  • Dyskinesia from the Parkinson's Foundation.  New
  • Dystonia Medical Research Foundation (DMRF) Since 1976, the DMRF has grown from a small family-based foundation into a dynamic membership-driven organization led by a Board of Directors and network of volunteers with personal connections to dystonia. Because dystonia hits so close to home for our directors and volunteers, the DMRF leadership is motivated by an unrelenting drive to find a cure and an unwavering commitment to serving people affected by dystonia.
  • Dystonia – Symptoms and causes – Mayo Clinic. Dystonia is a movement disorder that causes the muscles to contract involuntarily. This can cause repetitive or twisting movements. The condition can affect one part of your body (focal dystonia), two or more adjacent parts (segmental dystonia), or all parts of your body (general dystonia). The muscle spasms can range from mild to severe. They may be painful, and they can interfere with your performance of daily tasks.  New
  • MedlinePlus: Dystonia MedlinePlus is a service of the U.S. National Library of Medicine (NLM), National Institutes of Health (NIH). Dystonia is a movement disorder that causes involuntary contractions of your muscles. These contractions result in twisting and repetitive movements. Sometimes they are painful. Dystonia can affect just one muscle, a group of muscles or all of your muscles. Symptoms can include tremors, voice problems or a dragging foot. Symptoms often start in childhood. They can also start in the late teens or early adulthood. Some cases worsen over time. Others are mild.
  • The Dystonia Society The Dystonia Society was established in 1983 by a small group of people affected by dystonia, with the support of the late Professor David Marsden. The Society was established to promote the welfare of people who are affected by any form of the neurological movement disorder known as dystonia. The Society aims to do this by promoting awareness of the disorder, by supporting research and by undertaking welfare initiatives. It does this on a national level and through its network of local support groups. [UK]
  • National Spasmodic Torticollis Association Inc. (NSTA) The mission of the National Spasmodic Torticollis Association is to support the needs and well being of affected individuals and families; to promote awareness and education; to advance research for more treatments and ultimately a cure.  Updated
  • Spasmodic Torticollis Recovery Clinic, Inc. S.T.R.C. provides natural, non-medical, individualized education and therapy for people suffering with Spasmodic Torticollis/Cervical Dystonia globally (ST/CD).
  • Torticollis by the Cleveland Clinic.

Williams Syndrome

Williams syndrome, also known as Williams-Beuren syndrome, is a rare genetic disorder characterized by growth delays before and after birth (prenatal and postnatal growth retardation), short stature, a varying degree of mental deficiency, and distinctive facial features that typically become more pronounced with age. Such characteristic facial features may include a round face, full cheeks, thick lips, a large mouth that is usually held open, and a broad nasal bridge with nostrils that flare forward (anteverted nares). Affected individuals may also have unusually short eyelid folds (palpebral fissures), flared eyebrows, a small lower jaw (mandible), and prominent ears. Dental abnormalities may also occur including abnormally small, underdeveloped teeth (hypodontia) with small, slender roots.

Williams syndrome may also be associated with heart (cardiac) defects, abnormally increased levels of calcium in the blood during infancy (infantile hypercalcemia), musculoskeletal defects, and/or other abnormalities.

"Williams Syndrome" report from the National Organization for Rare Disorders (NORD)

References

For More Information

Learn more about genetics on our Genetic Disorders page.

Synonyms of Williams Syndrome

  • Beuren Syndrome
  • Early Hypercalcemia Syndrome with Elfin Facies
  • Elfin Facies with Hypercalcemia
  • Hypercalcemia-Supravalvar Aortic Stenosis
  • WBS
  • Williams-Beuren Syndrome
  • WMS