Stiff Person

One summer morning, James Kypuros awoke to find his toes stiffened like claws. Then he started having falls, which culminated in losing his ability to walk or even sit up without help. Diagnosed with stiff-person syndrome, James wouldn’t find hope or relief until he was treated for glycine receptor antibody syndrome following specialized testing by Mayo Clinic.

Mayo Clinic Laboratories expanded movement disorders panel better identifies autoimmune conditions. Four recently identified biomarkers — septin-5, septin-7, neurochondrin, and adaptor protein-3B2 — have been added to the panel, and all four have been shown to respond to immunotherapy.

Andrew McKeon, M.B., B.Ch., M.D., explains how Mayo Clinic Laboratories' stiff-person assay provides comprehensive evaluation for individuals on the spectrum of stiff-person syndrome. In addition to guiding treatment decisions, the assay can help confirm the most-severe stiff-person phenotype — known as PERM — which is associated with potential cancers.

A tenacious fighter, Joy Carol never lost hope that a mysterious condition that had stripped her of her ability to move would be identified. Hope turned into reality when a Mayo Clinic Laboratories test identified the cause of her illness and opened the door to successful treatment.