A lysosomal storage disease with multisystemic involvement leading to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive coarse facial features, short stature, cardio-respiratory involvement and skeletal abnormalities. It manifests as a continuum varying from a severe form with neurodegeneration to an attenuated form without neuronal involvement.
A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes.
Intrathecal baclofen in mucopolysaccharidosis type II (Hunter syndrome): case report.
Horn F, Petrik M, Dubravova D, Hornova J, Brennerova K, Bzduch V. Childs Nerv Syst. 2018;34(11):2325-2327.
Despite intrathecal baclofen administration in patients with spasticity related to mucopolysaccharidosis type II is not widely reported, we consider it as feasible treatment.