Oxygen Therapy: A New Hope for Children Suffering From Rare Diseases

by Henrik Andersen
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Alternating Hemiplegia is a condition that affects children at an early age and makes them very sick. It’s caused by a mutation in the ATP1A3 gene. When it happens, one or both sides of the body can become paralyzed (unable to move) for a few minutes or several days. They might also experience strange muscle contractions which are called dystonia, these last for hours and really hurt.

Doctors use special medicines called sedatives to help with the symptoms of this condition. If you can stay away from things that make the problem worse, like too much stress or physical activity, it might help you not have episodes as often.

A neurologist named Emmanuel Flamand-Roze has been trying to help patients with a condition called dystonia. Recently, they heard from one 25-year-old man that his symptoms went away quickly after being given a gas called nitrous oxide. This gas is normally mixed with oxygen, so doctors want to see if it’s the oxygen that helped the patient’s symptoms go away.

The researchers put an oxygen therapy machine in the patient’s house. After 15 minutes, their episodes stopped for good! Before this, the person would have up to 8 episodes a day that could last many hours – that was no fun! The oxygen therapy made his life better, and he didn’t have to take strong medicines like midazolam anymore; he only needed it 40 times a month before.

Quentin Welniarz proposed an idea to explain why oxygen could work against the symptoms of alternating hemiplegia. He suggested that cortical spreading depression (CSD) plays a huge role in these cases. CSD is when electrical activity dramatically increases and then drops off suddenly in the brain cells. This phenomenon has something to do with having too little oxygen, so giving extra oxygen quickly at the time of an attack might prevent or lessen its effects.

To make sure that giving oxygen helps with managing dystonia attacks, scientists need to make sure it works for other people who have similar conditions. They also need to know how to use oxygen therapy in a way that’s not too difficult or hard to follow at home.

The researchers Quentin Welniarz, Domitille Gras, Agathe Roubertie, Maria T. Papadopoulou, Eleni Panagiotakaki and Emmanuel Roze studied the effectiveness of Chinese herbs combined with moderate comprehensive treatment to treat childhood amblyopia. The results were published on February 16th 2023 in the journal Movement Disorders with a DOI number 10.1002/mds.29357.

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