Table 1 Demographics, clinical characteristics, neurophysiology, phenotype and missense mutation for the three families.
Family | 1 | 2 | 3 | |
|---|---|---|---|---|
Family member | Father | Daughter | ||
Demographic | ||||
Sex | ♀ | ♂ | ♀ | ♂ |
Age at onset | 2 | 70 | 29 | 56 |
Disease duration | 13 | 3 | 25 | 10 |
Clinical characteristics | ||||
Neurological Impairment Score (NIS) | ||||
cranial nerves | 0 | 0 | 0 | 0 |
Muscle weakness | 24 | 26 | 15 | 4 |
Reflexes | 16 | 16 | 2 | 4 |
Sensation | 24 | 6 | 6 | 2 |
Total NIS score | 64 | 48 | 23 | 10 |
Charcot-Marie-Tooth disease neuropathy score (CMTNS) | ||||
Sensory symptoms | 3 | 0 | 3 | 3 |
Motor symptoms | ||||
Legs | 4 | 1 | 1 | 1 |
Arms | 1 | 0 | 0 | 0 |
Pin sensibility | 4 | 3 | 3 | 3 |
Vibration | 4 | 4 | 3 | - |
Strength | ||||
Legs | 1 | 3 | 1 | 4 |
Arms | 3 | 1 | 0 | 0 |
Ulnar/median CMAP | 2 | - | 0 | 1 |
Ulnar/median SNAP | 4 | - | 3 | 3 |
Total CMTNS score | 26 | 12 | 14 | 15 |
Ataxia | Marked | Slight | - | - |
Romberg | Positive | - | Positive | - |
Pes cavus | Present | - | Present | Present |
Kyphoscoliosis | Marked | Slight | 0 | 0 |
Phenotype | Déjérine-Sottas syndrome | Charcot-Marie-Tooth type 2 | Charcot-Marie-Tooth type 2 | Charcot-Marie-Tooth type 2 |
Missense mutation | 368G>A | 103G>A | 103G>A | 103G>A |
Amino acid change | Gly123Asp | Asp35Asn | Asp35Asn | Asp35Asn |