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Items: 2

1.

RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE

MedGen UID:
864405
Concept ID:
C4015968
Finding
2.

Myoclonic dystonia

Myoclonus-dystonia (M-D) is a movement disorder characterized by a combination of rapid, brief muscle contractions (myoclonus) and/or sustained twisting and repetitive movements that result in abnormal postures (dystonia). The myoclonic jerks typical of M-D most often affect the neck, trunk, and upper limbs with less common involvement of the legs. Approximately 50% of affected individuals have additional focal or segmental dystonia, presenting as cervical dystonia and/or writer's cramp. Non-motor features may include obsessive-compulsive disorder (OCD), depression, anxiety, personality disorders, alcohol abuse, and panic attacks. Symptom onset is usually in childhood or early adolescence but ranges from age six months to 80 years. Most affected adults report a dramatic reduction in myoclonus in response to alcohol ingestion. M-D is compatible with an active life of normal span. [from GeneReviews]

MedGen UID:
331778
Concept ID:
C1834570
Disease or Syndrome

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