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Items: 11

1.

Myokymia

Successive and rapid contractions of motor units associated with chronic nerve injury. The discharges arise from the peripheral aspects of regenerating nerves, and clinically impart a nearly continuous undulation of the body surface overlying the muscle. (Adams et al., Principles of Neurology, 6th ed, p1491)

Year introduced: 2000

2.

Episodic Ataxia, Type 1 [Supplementary Concept]

Date introduced: November 5, 2012

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4.

Isaacs Syndrome

A rare neuromuscular disorder with onset usually in late childhood or early adulthood, characterized by intermittent or continuous widespread involuntary muscle contractions; FASCICULATION; hyporeflexia; MUSCLE CRAMP; MUSCLE WEAKNESS; HYPERHIDROSIS; TACHYCARDIA; and MYOKYMIA. Involvement of pharyngeal or laryngeal muscles may interfere with speech and breathing. The continuous motor activity persists during sleep and general anesthesia (distinguishing this condition from STIFF-PERSON SYNDROME). Familial and acquired (primarily autoimmune) forms have been reported. (From Ann NY Acad Sci 1998 May 13;841:482-496; Adams et al., Principles of Neurology, 6th ed, p1491)

Year introduced: 2000

5.

Trochlear Nerve Diseases

Diseases of the fourth cranial (trochlear) nerve or its nucleus in the midbrain. The nerve crosses as it exits the midbrain dorsally and may be injured along its course through the intracranial space, cavernous sinus, superior orbital fissure, or orbit. Clinical manifestations include weakness of the superior oblique muscle which causes vertical DIPLOPIA that is maximal when the affected eye is adducted and directed inferiorly. Head tilt may be seen as a compensatory mechanism for diplopia and rotation of the visual axis. Common etiologies include CRANIOCEREBRAL TRAUMA and INFRATENTORIAL NEOPLASMS.

Year introduced: 2000

6.

Hemifacial Spasm

Recurrent clonic contraction of facial muscles, restricted to one side. It may occur as a manifestation of compressive lesions involving the seventh cranial nerve (FACIAL NERVE DISEASES), during recovery from BELL PALSY, or in association with other disorders. (From Adams et al., Principles of Neurology, 6th ed, p1378)

Year introduced: 1998

7.

Facial Nerve Diseases

Diseases of the facial nerve or nuclei. Pontine disorders may affect the facial nuclei or nerve fascicle. The nerve may be involved intracranially, along its course through the petrous portion of the temporal bone, or along its extracranial course. Clinical manifestations include facial muscle weakness, loss of taste from the anterior tongue, hyperacusis, and decreased lacrimation.

Year introduced: 1981

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10.

Myokymia 1 [Supplementary Concept]

mutation in KCNA1

Date introduced: November 5, 2012

11.

Dyskinesia, Familial, with Facial Myokymia [Supplementary Concept]

mutation in ADCY5

Date introduced: November 5, 2012

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