Table 1.
Demographics and Characteristics of Our Cohort
Frequency (n = 404) | Percentage (95% CI) | |
---|---|---|
Age at mitochondrial disease diagnosis | ||
<18 y | 243 | 60.1 |
18–44 y | 95 | 23.5 |
45–64 y | 27 | 6.7 |
≥65 y | 2 | 0.5 |
Unknown | 37 | 9.2 |
Age at enrollment in the NAMDC Patient Registry | ||
<18 y | 187 | 46.3 |
18–44 y | 128 | 31.7 |
45–64 y | 72 | 17.8 |
≥65 y | 17 | 4.2 |
Sex | ||
Female | 230 | 56.9 |
Male | 174 | 43.1 |
Race/Ethnicity | ||
White | 347 | 85.9 |
Asian | 16 | 4 |
Hispanic or Latino | 16 | 4 |
Black/African American | 8 | 2 |
Multiracial | 7 | 1.7 |
American Indian/Alaska Native | 3 | 0.7 |
Native Hawaiian/Pacific Islander | 1 | 0.2 |
Other/Unknown | 6 | 1.5 |
Type of associated pathogenic molecular genetic mutation | ||
Mutation of nuclear DNA | 158 | 39.1 (34.3–44.1) |
Mitochondrial DNA defects | 228 | 0.4 (51.4–61.3) |
Mutation(s) in both | 18 | 4.5(2.7–7) |
Presence of a clinical mitochondrial syndrome diagnosis | ||
Diagnosis identified | 389 | 96.3 |
Undetermined/unknown | 15 | 3.7 |