Нейрогенний скапулоперонеальний синдром, тип Кайзера
ORPHA:85146· ICD-10 G12.1· Neurogenic scapuloperoneal syndrome, Kaeser type
Визначення(English summary)
A rare, genetic, neuromuscular disease characterized by adult-onset muscle weakness and atrophy in a scapuloperoneal distribution, mild involvement of the facial muscles, dysphagia, and gynecomastia. Elevated serum CK levels and mixed myopathic and neurogenic abnormalities are associated clinical findings.
- Поширеність
- <1 / 1 000 000
- Успадкування
- Autosomal dominant
- Вік початку
- Adult