Clinical features of 11 patients from six families with autosomal recessive demyelinating CMT
| Patients | 1a | 1b | 2a | 2b | 3 | 4a | 4b | 5 | 6a | 6b | 6c |
|---|---|---|---|---|---|---|---|---|---|---|---|
| Sex | F | F | M | M | F | F | M | F | F | F | M |
| Age of walking (months) | 14 | 14 | 16 | 18 | 14 | 14 | 17 | 30 | Normal | Normal | normal |
| Age at first examination (y) | 9 | 5 | 15 | 8 | 12 | 15 | 17 | 16 | 37 | 36 | 53 |
| Distal muscular atrophy | + | − | − | − | + | + | + | + | + | + | + |
| Distal sensory impairment | + | − | + | − | + | + | + | + | + | + | + |
| Areflexia | + | + | + | + | + | + | + | + | + | + | + |
| Foot deformities | PC | PP | PC | PP | PC | PC | PP | PP | PC | PC | PP |
| Scoliosis (age at onset (y)) | + (6) | + (6) | + (9) | + (8) | − | − | + (3) | + | + (6) | + (6) | + (7) |
| Spine surgery (age (y)) | + (17) | + (15) | + (17) | + (16) | + (37) | + (40) | |||||
| Wheelchair (age (y)) | + (25) | + (45) | |||||||||
| Disability at first examination (age (y))1-150 | 2 (9) | 1 (5) | 1 (15) | 1 (8) | 1 (12) | 1 (15) | 1 (17) | 2 (16) | 3 (37) | 1 (36) | 2 (53) |
| Disability at last examination (age (y))1-150 | 2 (17) | 1 (16) | 1 (21) | 1 (15) | 2 (17) | 3 (29) | 2 (25) | 4 (31) | 4 (47) | 2 (57) | 2 (55) |
| Nerve biopsy | + | + | − | + | + | + | − | + | − | + | − |
PC=pes cavus; PP=pes planus.
↵1-150 Disability scale at first and last examination: 1=mild weakness of ankle movements; 2=weakness of lower legs, mild involvement of hands, walking without help; 3=pronounced weakness of lower legs and hands, mild involvement of upper legs, walking with help; 4=severe proximal weakness, wheelchair bound.