Table 1.
Genotype and clinical course in eight cases of WD with osseomuscular type
| No | Gender | ATP7B mutations | Onset Age (years) | Osseomuscular abnormalities (Degreea) | Neurological symptoms | Interval from O to N (months) | Orthopedic Surgery | Interval from S to N (months) |
|---|---|---|---|---|---|---|---|---|
| 1 | F | p.A874V + p.P992L | 10 | Genu valgum (3) | Dysarthria, difficult with writing, musk face | 8 | Yes | 2 |
| 2 | M | p.M769Hfs*26 + p.R919G | 17 | Arthralgia in knee joints (2) | Dysarthria, tremor | 60 | No | - |
| 3 | M | p.R778Q + p.I930del | 12 | Arthralgia in knee joints (2) | Normal | - | No | - |
| 4 | F | p.E332* + p.R778L | 10 | Genu varum (3) | Dysarthria, bradykinesia | 18 | Yes | 15 |
| 5 | F | p.R778L + p.I1148T | 13 | Genu varum, femoral head necrosis, dislocation of the left shoulder (3) | Tremor | 36 | Yes | 36 |
| 6 | F | p.R778L + p.R778L | 15 | Talipes equinovarus (3) | Tremor writer’s cramp | N/A | Yes | <2 |
| 7 | M | p.R778L + p.G943D | 12 | Arthralgia in knee joints (4) | Tremor, dysarthria | 84 | No | - |
| 8 | M | p.R778L + p.V1106I | 3 | Arthralgia in hip and knee joints, dysplasia of thoracic vertebrae (4) | Normal | N/A | No | - |
*Translation termination codon, O osseomuscular symptoms, N neurological symptom, S surgery, N/A not available
aBased on the published assessment scale for osseomuscular symptoms [7]