Аутосомно-домінантна проксимальна спінальна мязова атрофія

Визначення(English summary)

A group of rare, genetic, motor neuron disease characterized by childhood or adult onset progressive, predominantly proximal, muscular weakness and wasting. Included diseases are Autosomal dominant adult-onset proximal spinal muscular atrophy, Lower motor neuron syndrome with late-adult onset, and Autosomal dominant childhood-onset proximal spinal muscular atrophy.