Affiliations: Virtual Medical Practice, LLC, 5579 Chamblee Dunwoody
Rd, Ste 110, Atlanta, GA 30338, USA. Tel.: +1 404 720 0820; Fax: +1 404 793
0775; E-mail: [email protected]
Abstract: Mitochondrial disorders typically present with widespread, clinical
features in all age groups and ethnicities and are often progressive and
degenerative in nature. Because their clinical presentation is so variable and
typically leads to widespread multisystem problems, diagnosis based on history
and physical findings alone is often difficult, particularly for physicians
unfamiliar with this group of diseases. Traditional diagnostic tools, which
include invasive muscle biopsies for a variety of histological studies,
functional assays, and enzymology, are costly, typically require a surgical
procedure, are not definitively diagnostic in all cases and generate data that
for the non-mitochondrial specialist is often difficult to interpret. Recent
advances with expanded gene testing, in some cases utilizing easily obtainable
urine samples, and noninvasive enzymatic testing are proving to increase
patient accessibility to testing modalities and will likely lead to more rapid
and accurate diagnosis, and ultimately improve management and treatment of
affected individuals.
Keywords: Mitochondrial, disease, diagnose, test, symptom, gene, buccal swab, muscle biopsy, next gen sequencing
