Аутосомно-рецесивна помірно виражена хвороба Шарко-Марі-Тута, тип А
ORPHA:217055· ICD-10 G60.0· Autosomal recessive intermediate Charcot-Marie-Tooth disease type A
Визначення(English summary)
A subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterized by severe, early childhood-onset CMT neuropathy with prominent pes equinovarus deformity and impairment of hand muscles. Nerve conduction velocities usually range between 25-35 m/s and both axonal and demyelinating changes are observed on peripheral nerve pathology.
- Поширеність
- <1 / 1 000 000
- Успадкування
- Autosomal recessive
- Вік початку
- Childhood