Table 3 Demographics, clinical, and genetic characteristics of Hong Kong Mitochondrial Disease cases (total 119)
From: Mitochondrial diseases in Hong Kong: prevalence, clinical characteristics and genetic landscape
Characteristics | Number of patients (% of total) |
|---|---|
Sex | |
Male | 65 (54.6) |
Female | 54 (45.4) |
Ethnicity | |
Chinese | 112 (94.1) |
Others | 7 (5.9) |
Age at onset | |
At birth to < 1 month | 14 (11.8) |
1 month to < 2 years | 35 (29.4) |
2 years to < 5 years | 9 (7.6) |
5 years to < 12 years | 21 (17.6) |
12 years to < 18 years | 12 (10.1) |
18Â years or older | 28 (23.5) |
Clinical syndrome | |
Syndromic | 74 (62.2) |
Non-syndromic | 45 (37.8) |
Family history | |
Positive | 51 (42.9) |
 Patients with mtDNA pathogenic variants | 35 (68.6% of 51 cases) |
 Patients with nDNA pathogenic variants | 15 (29.4% of 51 cases) |
 Unknown molecular basis | 1 (2.0% of 51 cases) |
Negative | 68 (57.1) |
Organ system involvement at presentation | |
Neurological | 92 (77.3) |
Hearing | 14 (11.8) |
Gastrointestinal | 9 (7.6) |
Endocrine | 9 (7.6) |
Cardiac | 6 (5.0) |
Renal | 4 (3.4) |
Ophthalmological | 3 (2.5) |
Hematological | 1 (0.8) |
Molecular genetic information | |
mtDNA pathogenic variants | 72 (60.5) |
nDNA pathogenic variants | 38 (31.9) |
Unknown molecular basis | 9 (7.6) |