The Kugelberg-Welander syndrome (hereditary proximal spinal muscular atrophy).
D002675:Child, Preschool; D006801:Humans; D007866:Leg; D008297:Male; D009133:Muscular Atrophy / Q000235:genetics* / Q000503:physiopathology; D012026:Reflex, Stretch; D013131:Spine