Joint contractures due to Mucopolysaccharidosis 1 (Hurler Scheie)– a demonstration using pGALS and pREMS
The video demonstrates multiple joint abnormalities on pGALS assessment with joint contracture at the wrists, fingers, shoulders, elbows, knees. This child also had features of carpal tunnel syndrome and trigger fingers; (i.e., fingers 'sticking' when making a fist and then attempting to release again). He has a chronic multisystem condition called Mucopolysaccharidosis (MPS) type 1 resulting in widespread joint contractures. He has a hearing aid, facial dysmorphism and noisy breathing as other features of his condition.