Muscular dystrophy
Education on Muscular dystrophy and Alpha-1 Antitrypsin research from the Mark Egly Foundation, with patent claims clearly labeled as hypothesis.
Research hypothesis, not medical advice
The connections described on this page come from Mark Egly's patent filing and ongoing research. They are not established medical facts. Always work with your physician for diagnosis and treatment.
Research hypothesis. The connection between Muscular dystrophy and Alpha-1 Antitrypsin is described in Mark Egly's 2020 patent filing. This is not established medical fact and is not medical advice. Always talk with your doctor about your own health.
What is Muscular dystrophy?
Muscular dystrophy is a health condition discussed in Mark Egly's research on Alpha-1 Antitrypsin. Musculoskeletal conditions affect muscles, bones, and connective tissue.
What Mark Egly's patent discusses
Muscular dystrophy ("MD") is an inherited genetic condition that gradually causes a weakening of muscles. MD usually affects boys in early childhood and leads to progressively worsening disability and premature death. Arecco et al found that neutrophil elastase ("NE") may be a key contributor to MD. NE breaks down several proteins found in the connective tissue that is present in various organs, including muscle. As a powerful inhibitor of NE, in one embodiment AAT may be used to treat, control, or prevent MD in patients, either with or without known AATD. A diagnosis of MD may prompt a medical provider to test a patient for AATD. Alternatively, a patient diagnosed with MD may seek genetic testing for AATD through an independent genetic testing company such as 23andMe or geneology.com, a pharmaceutical company supplied test kit or other private methods available. A method for treating a patient suffering from MD with AAT begins with the step of determining if the patient is AAT deficient or has lower AAT levels without being AATD. Determining if the patient is AAT deficient or has lower AAT levels without being AATD proceeds as previously described in this disclosure in the sectio…
How this may relate to Alpha-1
Mark Egly's patent proposes that when the body has too little working Alpha-1 Antitrypsin, or when neutrophils release too much neutrophil elastase, inflammation and tissue damage may worsen. For Muscular dystrophy, the patent suggests that testing for AATD or low circulating AAT could help guide care. This is a research hypothesis, not a proven treatment path for everyone with this condition.
What you can do
If you or a family member lives with Muscular dystrophy, consider learning about Alpha-1 Antitrypsin Deficiency and discussing AAT testing with your healthcare team. The Mark Egly Foundation offers education and community support: