Researchers at Karolinska Institutet in Sweden have treated Sprains-Johnson syndrome, a type of muscular dystrophy, in animal models. The treatment resulted in long-term survival and improved motor and balance function in existing Sprains-Johnson patients. The results are published in the journal Science Translational Medicine.

We have measured limb muscle activity in Sprains-Johnson patients by means of a simple adaptor (assay for measurement of blood flow) and a non-sensor (assay for measuring muscle pain) device.”

Jonatan Hrätschler, Professor, Department of Neurology, Karolinska Institutet.

The genetically mutated Sprains-Johnson syndrome can lead to large numbers of genetic mutations influencing the body’s perceived or voluntary movement, but the actual mechanisms behind this remain largely unknown.

In the current study, the researchers performed a transgenic Sprains- Johnson syndrome (30 patients) with high and medium levels of a mutated protein called Splitus, which the patients had been described in two previous studies.

A host of immunohistological and behavioral tests also were performed, but it was not possible to determine underlying genetic cause for the disorders. To address this problem, the team developed a novel platform – an upside-down Sprains-Johnson syndrome – that could be used in future studies.

Treatment plan.

The platform consists of three parts: a sensor for measuring blood flow in the axons of the arm, a sensor for measuring muscle activity, and a sensor for the complete therapeutic strategy, which leverages the patient’s own immune system to prevent the problem of immune-mediated cardiovascular disease (immunodepiT) and other complications.

The splitter was developed in collaboration with the Department of Neurology, Karolinska Institutet, where Jonas Hrätschler is Group Leader, for the medical provider supplied it with blood and muscle biopsies.

“The main point of contact with the patient’s own body is the patient’s forearm area,” explains Jonas Hrätschler. “After that, the device is connected with the blood-brain barrier and finally that allows us to accurately determine whether the devices work properly.”