Clinical details of all affected members
| Members | III-3 | IV-2 | IV-3 | IV-4 | IV-5 | IV-6 | IV-9 |
|---|---|---|---|---|---|---|---|
| Age (y) | 63 | 33 | 31 | 30 | 29 | 28 | 21 |
| Age of onset (y) | 36 | 23 | NK | Asym | Asym | Asym | 7 |
| Limbs | |||||||
| Wasting | − | − | − | − | − | − | + |
| Fasciculations | − | − | − | − | − | − | − |
| Tone | Spastic | N | N | N | N | N | N |
| Reduced power | − | − | + | − | − | − | + |
| Reflexes | Brisk | Ab | Ab | Ab | Ab | Ab | Ab |
| Ataxia | +++ | + | + | + | + | + | +++ |
| Sensory loss1-150 | + | − | + | − | − | − | + |
| Extensor plantars | + | + | + | − | − | − | + |
| Other features | |||||||
| Dysarthria | + | + | − | − | − | − | + |
| Nystagmus | + | − | + | − | − | + | + |
| Scoliosis | − | + | − | − | − | − | +++ |
| Pes cavus | − | − | − | − | − | − | + |
| Cardiomyopathy | − | − | − | − | − | − | + |
| Bladder dysfunction | − | − | − | − | − | − | − |
| Dementia | − | − | − | − | − | − | − |
| Walking disability | WF | Mild ataxia | Mild ataxia | Asym | Asym | Asym | WC |
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Asym=Asymptomatic; NK=not known; N=normal; Ab=absent; WC=wheelchair; WF=walking frame.
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↵1-150 Sensory loss confined to dorsal columns.
