Clinical feature | Patient | |||
---|---|---|---|---|
 | II-2 | II-3 | II-9 | II-14 |
Gender | M | F | F | M |
Age of onset | 14 | 14 | 8 | 8 |
Ataxia | + | + | + | + |
Dysarthria | + | + | + | + |
Abnormal eye movements | + | + | + | + |
Deep tendon reflexes | areflexic | areflexic | Areflexic | areflexic |
Spasticity in the lower limbs | + | + | + | + |
Babinski sign | + | indifferent | + | + |
Pes cavus | + | - | + | + |
Deep sensation (proprioception and vibration) | reduced | reduced | Reduced | reduced |
Scoliosis | + | + | + | + |
Muscle weakness in upper limbs | distal | distal | Distal | distal |
Muscle weakness in lower limbs | proximal + distal | proximal + distal | proximal + distal | proximal + distal |
Muscle atrophy in upper limbs | distal | distal | distal | distal |
Muscle atrophy in lower limbs | distal | distal | distal | distal |
Cardiomyopathy | - | - | - | - |
Diabetes mellitus | + | - | - | - |
AFP levels in IU/ml | 30.5 | 29.6 | 34.0 | n/a |
MRI signs of cerebellar atrophy | n/a | n/a | n/a | + |