Spinal Muscular Atrophy, Jokela Type (SMAJ)

Spinal Muscular Atrophy, Jokela Type, also known as lower motor neuron syndrome with late-adult onset, is related to spinal muscular atrophy and autosomal dominant proximal spinal muscular atrophy, and has symptoms including muscular fasciculation An important gene associated with Spinal Muscular Atrophy, Jokela Type is CHCHD10 (Coiled-Coil-Helix-Coiled-Coil-Helix Domain Containing 10). Affiliated tissues include skeletal muscle and tongue, and related phenotypes are distal lower limb muscle weakness and gait disturbance