11th August 2024

Stiff person syndrome

This is a rare condition that is more common in females. It presents mostly between the ages of 30-50 with stiffness and muscle spasms, most commonly of the truncal muscles, which can be painful and over time impair gait, resulting in frequent falls. The spasms can be triggered by emotional stress or environmental stimuli such as an unexpected loud noise, physical touch or cold temperatures.

It is associated with anti-GAD (glutamic acid decarboxylase) antibodies, like in type 1 diabetes but in much higher concentrations, and thus can be associated with T1DM and other related autoimmune conditions, including pernicious anaemia, thyroid disease and vitiligo. The anti-GAD antibodies can be found in either the serum or CSF.

The mainstay of treatment is symptom control with botox, benzodiazepines and neuropathic agents such as gabapentin. There are some immune therapies now to help to slow disease progression including plasma exchange, IVIg and immunosuppressants.