Oxygen-ozone action on Isaac’s syndrome: a case report

BACKGROUND: Isaac’s syndrome, or neuromyotonia, is a rare autoimmune neuromuscular disorder characterized by continuous muscle fiber activity due to peripheral nerve hyperexcitability. Clinical features include persistent muscle stiffness, cramps, fasciculations, delayed muscle relaxation, and myokymia. These symptoms are often associated with autoantibodies targeting voltage-gated potassium channels (VGKCs) or related proteins such as CASPR2. Conventional treatment typically involves immunosuppressive agents and symptomatic medications, but therapeutic responses can be incomplete or transient.

CASE REPORT: We report the case of a 43-year-old woman with a long-standing diagnosis of Isaac’s syndrome who experienced limited benefit from prolonged immunosuppressive and symptomatic therapies. The patient presented with disabling motor symptoms, pain, and reduced quality of life. She was treated with major autohemotherapy using an oxygen-ozone (O₂-O₃) protocol. Within two months, notable clinical and electrophysiological improvements were observed, including the resolution of neuromyotonia and significant gains in daily functional abilities. These improvements, assessed via the Barthel Index, remained stable over a three-year follow-up period, indicating sustained autonomy and pain control. The patient also carried MTHFR C677T and A1298C polymorphisms, which may have contributed to the autoimmune disease and influenced treatment response.

CONCLUSIONS: This case highlights the potential role of oxygen-ozone therapy as a complementary non-pharmacological approach in refractory autoimmune neuromuscular disorders. The sustained clinical benefit observed suggests that ozone therapy may contribute to immune modulation, redox balance, and restoration of mitochondrial function. Further studies are warranted to evaluate personalized ozone-based protocols in the management of immune-mediated neuromuscular conditions.

Graphical Abstract