autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures — Definition

Kontraktürlü otozomal dominant çocukluk çağı başlangıçlı proksimal spinal musküler atrofi; otozomal is a neuromuscular disease characterized by weakness and melting in proximal muscle groups, showing dominant inheritance, starting in childhood and degeneration of motor neurons in omurilik. The pronounced feature of the disease is accompanied by convergence (hareket limitation) in the joints. This condition caused by genetic mutations can lead to progressive muscle weakness and respiratory failure.

The Turkish equivalent of "autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures" is Kontraktürlü otozomal dominant çocukluk çağı başlangıçlı proksimal spinal musküler atrofi.

This term belongs to the Diseases category.