Table 1 First symptom of Charcot-Marie-Tooth disease.
From: Two novel connexin32 mutations cause early onset X-linked Charcot-Marie-Tooth disease
Family member | Sex | Age at onset years | First symptom |
|---|---|---|---|
Family 1 | |||
III-7 | ♀ | 6 | Muscle cramps, thin legs, problems going skiing and skating |
IV-4 | ♂ | 3 | Muscle cramps, problems with running and reduced balance |
IV-8 | ♀ | 10 | Problems with running and skating and reduced balance |
IV-12 | ♀ | 6 | Problems with running and excessive falling |
IV-15 | ♀ | 22 | Excessive tiredness |
V-4 | ♀ | 7 | Problems with running and skiing |
Family 2 | |||
III-2 | ♀ | 6 | Muscle cramps, problems with running and reduced balance |
IV-1 | ♂ | 4 | Weakness in lower extremities, problems with running and walking and reduced balance |
IV-3 | ♂ | 11 | Weakness in lower extremities, problems with running and walking and reduced balance |
V-1 | ♀ | 1 | Reduced balance and problems with walking |