Проксимальна спінальна мязова атрофія, тип 3
ORPHA:83419· ICD-10 G12.1· Proximal spinal muscular atrophy type 3
Визначення(English summary)
A rare, genetic proximal spinal muscular atrophy characterized by degeneration of alpha motor neurons in the anterior horns of the spinal cord and lower brain stem manifesting with onset of progressive proximal muscle weakness (legs greater than arms) between 18 months and adulthood. Motor development is heterogeneous but walking is typically acquired.
- Поширеність
- 1-9 / 1 000 000
- Успадкування
- Autosomal recessive
- Вік початку
- Adolescent, Adult, Childhood, Infancy