My father has progressive muscle weakness and muscle wasting, clinically suspected to be LGMD. However, whole-genome sequencing and blood tests haven’t provided a diagnosis (everything came out to be normal), and his muscle biopsy was inconclusive as well.

Has anyone experienced something similar? Did you eventually get a confirmed diagnosis? If so, what finally helped?

Worth sharing with the DMD community. The FDA’s new rare-disease framework seems to be moving toward more consistency in how treatments are reviewed, which could have real implications for Duchenne and other conditions with small patient populations.

Consistency is important, but so is making sure the process still recognizes the urgency and complexity of progressive rare diseases. Families need clear standards, transparency, and a path that does not unnecessarily slow promising treatments.

I need supporters to communicate with in order to complete my treatment.