4 ms·
What were the symtoms? How did you get diagnosed?
by reacweb 8y ago
What were the symtoms? How did you get diagnosed?
- fasteo 8y ago>>> What were the symptoms? It varies greatly, both in number and severity, between patients, but in my case main symptoms are ptosis (droopy eyelids), diplopia (double vision), muscle weakness and general fatigue Other symptoms include exercise intolerance, gut motility problems, cognitive problems, heart problems, etc >> How did you get diagnosed? Diagnose took 2 years. At the end, a muscle biopsy revealed my disease (mitochondrial myopathy [1] due to a large-scale single mtDNA deletion). My phenotype is known a CPEO [2] [1] https://www.mda.org/disease/mitochondrial-myopathies https://www.mda.org/disease/mitochondrial-myopathies [2] https://en.wikipedia.org/wiki/Chronic_progressive_external_ophthalmoplegia https://en.wikipedia.org/wiki/Chronic_progressive_external_o...