Isaacs Syndrome

Isaacs syndrom

Svensk definition

En sällsynt, neuromuskulär sjukdom som vanligtvis börjar sent i barndomen eller tidigt i vuxenåldern. Typiska tecken är återkommande eller kontinuerliga, utbredda och ofrivilliga muskelsammandragningar, stickningar, försvagade reflexer, muskelkramp, muskelsvaghet, hyperhidros, takykardi och myokymi. Om även strupmusklerna drabbas kan tal och andning störas. Den ständiga motoriska aktiviteten kvarstår under djupsömn och narkos, vilket skiljer tillståndet från Stiff-Personsyndromet. Ärftliga och förvärvade (främst autoimmuna) former har rapporterats.

Engelsk definition

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)

Svenska synonymer

Neuromyotoni Pseudomyotoni

Engelska synonymer

Gamstorp-Wohlfart Syndrome Gamstorp Wohlfart Syndrome Isaacs' Syndrome Isaac Syndrome Myokymia, Myotonia, Muscle Wasting, And Hyperhidrosis Myokymia, Continuous Continuous Myokymia Continuous Myokymias Myokymias, Continuous Pseudomyotonia Syndrome of Isaacs Isaacs Pseudomyotonia Syndrome Quantal Squander Syndrome of Continuous Muscle Activity Continuous Muscle Activity Syndrome Isaacs-Mertens Syndrome Isaacs Mertens Syndrome Neuromyotonia Acquired Neuromyotonia Neuromyotonia, Acquired Pseudomyotonia