Table 1 Clinical characteristics of 37 MELAS patients
Clinical Characteristics | Total n = 37 |
|---|---|
Patient(male/female) | 37(24/13) |
Age of clinical onset(years) | 32.1 ± 9.8(14–53) |
Age of seizure onset (years) | 31.0 ± 10.7(12–53) |
Positive family history | 28(75.7%) |
Muscle biopsy examination | 37 |
RRF | 27(73%) |
SSV | 26(70.3%) |
A3243G mutation positive | 30(81.1%) |
Mutation not found | 7(18.9%) |
Duration of follow up(years) | 7.2 ± 4.8(1–21) |
MRS score at last visit | 3.5 ± 1.7(1–6) |
Clinical manifestations before onset | |
Hearing loss | 26(70.3) |
General fatigue | 25(67.6%) |
Short stature | 24(64.9%) |
diabetes mellitus | 17(45.9) |
Seizure | 8(21.6%) |
Symptoms at onset | |
Seizure | 37(100%) |
Headache | 29(78.4%) |
cognitive disorder | 24(64.9%) |
Status epilepticus | 22(59.5%) |
Neuropsychiatric disorders | 21(56.8%) |
Cortical blindness | 17(45.9%) |
Focal weakness | 12(32.4%) |
ataxia | 10(27%) |