Table 1. Phenotypic delineation of the affected individuals.
| Family | P.1 | P.1 | P.1 | P.1 | P.1 | P.1 | P.1 | P.1 | P.2 | P.3 | P.3 |
| Individual | III:2 | III:9 | IV:2 | IV:3 | IV:6 | IV:11 | IV:12 | V:3 | II:3 | III:3 | IV:1 |
| Sex | M | M | F | M | M | F | F | F | F | F | F |
| Age at examination | 34 | 53 | 9 | 3 | 11 | 12 | 14 | 5 | 4.5 | 22 | 2.8 |
| Age at onset | <1 year | <1 year | 1st month | 0.5 year | <1 year | 1 year | <1 year | 1.4 years | 5 months | <1 year | 1 year |
| Progressive deterioration | + | + | + | + | + | + | + | + | + | + | + |
| Toe walking | + | + | + | + | + | + | + | + | + | + | + |
| Pes equinus | + | + | + | + | + | + | + | + | + | + | + |
| Weakness – upper limb | - | + | - | R++/L+ | - | - | - | - | - | - | - |
| Lower limb | - | + | - | + | - | - | - | - | - | - | + |
| Atrophy – upper limb | - | ++ | - | ++ | - | - | - | + | - | - | - |
| Lower limb | - | ++ | - | ++ | - | - | - | + | - | - | - |
| Spasticity – upper limb | - | - | - | - | - | - | - | - | - | - | - |
| Lower limb | + | + | + | + | + | + | + | + | + | + | + |
| Hyperreflexia – upper limb | NA | - | NA | - | - | NA | - | - | - | - | - |
| Lower limb | NA | + | NA | + | + | NA | + | + | + | + | + |
| Contractures/deformity – upper limb | - | - | - | - | - | - | - | - | - | - | - |
| Lower limb – knee | - | + | - | - | - | - | - | - | - | + | - |
| Babinski sign | NA | NA | NA | - | + | NA | + | - | + | + | + |
| Gower sign | NA | NA | NA | +/- | - | NA | - | +/- | +/- | - | - |
| Difficulty standing from sitting position | + | - | - | + | + | + | + | + | + | + | NA |
| Difficulty running | NA | + | - | NA | + | + | + | + | - | + | NA |
| Mobility restriction | + | + | - | + | - | - | - | - | - | + | - |
| Urinary incontinence | - | - | - | - | - | - | - | - | - | - | - |
| Pain | + | + | - | - | - | + | + | - | - | + | - |
| Sensory deficits | NA | NA | - | - | - | - | - | - | - | + | - |
| Kyphosis | + | + | - | +/- | + | + | + | - | +/- | +/- | - |
| Scoliosis | + | + | - | - | - | - | + | - | - | - | - |
| Facial involvement | - | - | - | - | - | - | - | - | - | + | - |
| Tongue atrophy | NA | ++ | - | - | + | - | + | + | - | + | - |
| Muscle cramps | - | - | - | - | - | - | + | - | - | + | - |
| Speech disorder | + | + | + | + | + | + | + | + | NA | - | NA |
| Dysphagia | - | - | + | - | - | - | - | - | NA | - | NA |
| Intellectual disability | - | - | - | + | - | - | - | + | + | - | + |
| Global developmental delay | - | - | - | + | - | - | - | + | + | - | + |
| Elevated CPK | - | - | NA | NA | NA | NA | - | NA | - | NA | - |
| Treatment | Surgery | Surgery | Surgery | Surgery | - | Botox injection | Surgery | Surgery | Surgery | - | - |
| Resolution with surgery | + | - | +/- | NA | NA | NA | +/- | +/- | +/- | - | NA |
| Normal brain imaging | NA | NA | + | + | NA | + | + | + | + | + | NA |
| Normal Spinal cord imaging | NA | NA | + | + | NA | + | + | NA | + | NA | + |
Abbreviation: NA, not available. Only 11 of the 12 patients are described, as patient P.3 IV:3 died of an unrelated cause early on in the disease course and could not be well-characterized phenotypically.