Вроджений генералізований синдром гіперскоротливої ригідності мязів
ORPHA:476406· ICD-10 G71.2· Congenital generalized hypercontractile muscle stiffness syndrome
Визначення(English summary)
A rare defect of tropomyosin characterized by decreased fetal movements and generalized muscle stiffness at birth. Additional features include joint contractures, short stature, kyphosis, dysmorphic features, temperature dysregulation, and variably severe respiratory involvement with hypoxemia. Muscle biopsy shows mild myopathic features.
- Поширеність
- <1 / 1 000 000
- Успадкування
- Autosomal dominant, Not applicable
- Вік початку
- Antenatal, Neonatal