Table 1.
Patient ID | 1 | 2 | 3 | 4 | 5 | 6 | 7 |
---|---|---|---|---|---|---|---|
Sex | F | F | M | M | F | M | M |
Onset age | 1 year | 27 years | 17 years | 44 years | 55 years | 68 years | 20 years |
Repeat size | 139 | 217,674 | 83, 184 | 116 | 135 | 132 | 128 |
Initial symptom | Dev | MW | MW, RPD | Ptosis | RPD | MW | PD |
Ptosis | + | + | + | + | + | + | + |
Ophthalmoplegia | + | + | + | + | + | + | + |
Dysphagia | + | + | + | - | - | + | + |
Dysarthria | + | + | + | + | + | + | + |
Facial weakness | + | + | + | - | - | + | + |
Limb muscle weakness | + | + | + | + | + | + | + |
Distal/proximal/both | D (TA, Pe) | D > P | D > P | D (TA) > P | PU | D = P | D > P |
Other muscle weakness | Neck | Neck | Neck | - | - | - | - |
Muscle atrophy | Diffuse | Distal | Diffuse | Distal | - | - | Diffuse |
Deep tendon reflex | ↓↓ | ↓↓ | ↓ | ↓ | ↓ | ↓↓ | ↓↓ |
Sensory disturbance | - | - | - | + | + | + | - |
Cerebellar symptoms Tremor | Ataxia | - | - | Tremor | Ataxia | NA | Ataxia |
Eye abnormality | VD | RP | RPD | Mio, Pho | RPD | Cataract | - |
Ear abnormality | Co | SHL | NA | + | + | + | - |
HDSR | 20 | 30 | 29 | 28 | 6 | 20 | NA |
Leukoencephalopathy | + | - | NA | NA | + | - | + |
Neuropathy confirmed by NCV | + | NA | - | + | NA | + | + |
ECG, UCG | - | Long QT | - | - | - | AV block, LVH | - |
CSF cells per µl | 2 | NA | NA | 2 | 1 | 1 | 4 |
CSF protein, mg/dl | 60 | NA | NA | 110 | 157 | 77 | 59 |
CK IU/L | 203 | 654 | 1475 | 1886 | 63 | 735 | 436 |
Lactate mg/dl | 19.6 | 14.0 | 17.3 | NA | 21.6 | 5.3 | 9.7 |
Co conductive deafness, Dev developmental delay, DL distal lower limb, DU distal upper limb, HDSR Hasegawa dementia rating scale-revised, LVH left ventricular hypertrophy; Mio miosis, MW muscle weakness, N neck weakness, NA not available, PD panic disorder, Pe peroneal, Pho photophobia, PU proximal upper limb, RP retinal pigmentation, RPD retinal pigmentary degeneration, SHL sensory hearing loss, TA tibialis anterior, VD visual disturbance