Female Patient with D313Y, 50 y.

Improvements since the start of therapy

Since the age of about 40, there have been increasing impairments due to food intolerance, tachycardia, arterial hypertension, fatigue and pain in the head area, which apparently are based on hardening and breaking up connective tissue structures, especially under the scalp.

The pain in the head area was initially accompanied by cracking noises in the ears that only I could hear and later also by noises in the area of ​​the left skull cap that other people could hear. Hardening of the neck and face restricted mobility. Mouth opening was also restricted, making speaking difficult and dental treatment practically impossible. I experience increasing swallowing disorders, which I find very stressful, as “spasms of the esophagus”. My overall condition had deteriorated to such an extent that I could only get out of bed for the most necessary tasks.

Under migalastat therapy there was a rapid improvement, especially with regard to tachycardia, hypertension and exhaustion. Effective perspiration has also set in, and food intolerances are declining. Abscesses no longer occurred.

Furthermore, the mobility of the soft parts of the head and face has improved, although there is still severe pain in this area. The painful bony changes in the hands and contractures along the finger extensor tendons in the palm area also persist, which is why the faucets in the house had to be replaced to make them easier to use.

Cutis marmorata, which has been known since adolescence, and Raynaud’s syndrome also occur occasionally as fewer debilitating phenomena.

Nevertheless, I am satisfied with the success of the therapy. Despite the still increased need for rest, I can largely participate in normal everyday life. Mouth opening and speaking are normal again, swallowing problems are decreasing.

There is a significant improvement in cognitive performance including memory.