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