Patient | 1 | 2 |
---|---|---|
Mutations | c.374 T > C; p.Leu125Pro | c.334G > A p.Thr115Asn |
Sex/age | M/39 | F/46 |
Age of onset | First decade | 30 years |
Presenting symptom | High arches, | Foot deformity (asymmetric), pain on longer walks |
Weakness | ||
Upper limbs | − | − |
Lower limbs | + | + |
Pinprick | ||
Upper limbs | − | − |
Lower limbs | ++ | ++ |
Vibration | ||
Upper limbs | − | − |
Lower limbs | + | + |
Skeletal deformities | Severe pes cavus | Pes cavus, hammer toes |
CMTES | 6 | 7 |
CMTNS | ND | 9 |
Aid for walking | No | No |