Періодичний параліч з транзиторним куперозним синдромом
ORPHA:397755· ICD-10 G72.3· Periodic paralysis with transient compartment-like syndrome
Визначення(English summary)
A rare genetic neuromuscular channelopathy characterized by normokalemic episodes of painful muscle cramping followed by progressive, permanent, flaccid weakness, triggered by stress, cold and exercise, associated with myopathic myopathy and painful acute edema with neuronal compression, foot drop and muscle degeneration when located in the tibialis anterior muscle group.
- Поширеність
- <1 / 1 000 000
- Успадкування
- Autosomal dominant
- Вік початку
- All ages