Finsterer J, et al. - Physicians designed this study to determine which organs and/or tissues were most frequently affected by mitochondrial multiorgan disorder syndrome (MIMODS), which were the most frequent abnormalities within an affected organ, whether there were typical MIMODS patterns. Furthermore, they aimed to create the MIMODS score to evaluate the diagnostic probability for the mitochondrial disorder (MID). In the vast majority of the cases, adult MIDs manifested as MIMODS. Muscles, central nervous system (CNS), endocrine glands, and heart were the organs most frequently affected in MIMODS. The MIMODS score >10 suggested the MID.

• The physicians performed a retrospective evaluation of clinical, biochemical, and genetic investigations of adult patients with definite MIDs.
• They enrolled 36 definite MID patients aged 29-82 years in this study, 19 men, and 17 women.
• For this study, the diagnosis was based on genetic testing (n=21), on biochemical investigations (n=17), or on both (n=2).

• Ranging from 1 to 9, the number of organs most frequently affected was 4.
• The physicians diagnosed MIMODS in 97% of patients.
• The muscle (97%), central nervous system (CNS; 72%), endocrine glands (69%), heart (58%), intestines (55%), and peripheral nerves (50%) were the organs most frequently affected.
• Leukoencephalopathy, prolonged visually evoked potentials, and atrophy were the most frequent CNS abnormalities.
• Thyroid dysfunction, short stature, and diabetes were included as the most frequent endocrine abnormalities.
• Arrhythmias, systolic dysfunction, and hypertrophic cardiomyopathy were included as the most frequent cardiac abnormalities.
• Encephalomyopathy, encephalo-myo-endocrinopathy, and encepalo-myo-endocrino-cardiopathy were the most frequent MIMODS patterns.
• In this sudy, the mean ± 2SD MIMODS score was 35.97±27.6 (range =11–71).
• The MIMODS score >10 was considered as indicative of the MID.