Хвороба Шарко-Марі-Тута, тип 4G
ORPHA:99953· ICD-10 G60.0· Charcot-Marie-Tooth disease type 4G
Визначення(English summary)
Charcot-Marie-Tooth disease type 4G (CMT4G) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by early childhood onset of progressive distal muscle weakness and atrophy, delayed motor development, prominent distal sensory impairment, areflexia, moderately reduced nerve conduction velocities, and foot and hand deformities in Balkan (Russe) Gypsies.
- Поширеність
- Unknown
- Успадкування
- Autosomal recessive
- Вік початку
- Adolescent, Childhood