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Сімейний епізодичний больовий синдром

ORPHA:391384· ICD-10 M79.6· Familial episodic pain syndrome

Визначення(English summary)

A rare genetic peripheral neuropathy characterized by recurrent, stereotyped, episodic intense pain, ocurring predominantly in either the upper body or lower limbs in several members of a family, which is triggered or exacerbated by fatigue, cold exposure, fasting, weather changes and/or physical stress or exertion and may or may not diminish with age. Sweating and other manifestations, such as tachycardia, breathing difficulties and generalized pallor, may be associated.

Поширеність
<1 / 1 000 000
Успадкування
Autosomal dominant
Вік початку
Infancy, Neonatal