Синдром Дежеріна-Соттаса
ORPHA:64748· ICD-10 G60.0· Dejerine-Sottas syndrome
Визначення(English summary)
A clinical entity that represents a severe phenotype of Charcot-Marie-Tooth disease characterized by onset occurring in infancy, severe motor weakness, delayed motor development, extremely slow nerve conduction (PMP22 (17p12), MPZ (1q22), EGR2 (10q21.1) and PRX (19q13.2) have been implicated.
- Поширеність
- <1 / 1 000 000
- Успадкування
- Autosomal dominant, Autosomal recessive, Not applicable
- Вік початку
- Infancy