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Прогресуючий енцефаломієліт з ригідністю та міоклонією

ORPHA:438266· ICD-10 G04.8· Progressive encephalomyelitis with rigidity and myoclonus

Визначення(English summary)

A rare stiff person syndrome spectrum disorder characterized by limb and truncal rigidity, stimulus-sensitive spasms, myoclonus, hyperekplexia, autonomic disturbance, and brainstem involvement or other neurological defects. The condition is progressive and potentially life-threatening, especially due to respiratory failure. It may be associated with the presence of glycine receptor or glutamic acid decarboxylase antibodies, as well as thymomas or lymphomas.

Поширеність
Unknown
Успадкування
Not applicable
Вік початку
Adult, Infancy