Table 1 Clincal overview from ten Czech CCFDN patients
Patient | Gender | Year at birth | Age at diagnosis and examination (years) | Congenital cataract surgery | Independent gait since the age of | Early motor milestones | Rhabdomyolysis | Scoliosis | Abnormal gait | Mental abilities | Neuropathy (MNCV) |
|---|---|---|---|---|---|---|---|---|---|---|---|
1 | M | 1993 | 11 | Yes | Not before the age of 4 y. | Delayed | 4x | No | Yes | Subnormal,special school | Demyelinating |
(22 m/s) | |||||||||||
2 | F | 1991 | 14 | Yes | 4 y. | Delayed | 1x | Yes | Yes | At 10 years as 3 years level -special school | Demyelinating |
(19–26 m/s) | |||||||||||
3 | M | 1984 | 18 | Yes | ? | Delayed | No | Severe | unable | Subnormal | Demyelinating |
4 | M | 2002 | 4 | Yes | 2.5 | Delayed | No | No | Yes | Subnormal | Demyelinating |
(29 m/s) | |||||||||||
5 | M | 2002 | 3.5 | Yes | 2 y. | Delayed | 1x | No | Yes | Almost normal | Demyelinating |
6 | F | 1990 | 14 | Yes | 2 y. | Delayed | No | No | Mildly | Borderline | Demyelinating |
(22 m/s) | |||||||||||
7 | F | 2004 | 1.5 | Yes | Not yet | Delayed | No | No | Unable | Subnormal | Demyelinating |
8 | F | 2003 | 3 | Yes | Not yet | Delayed | No | No | Unable | Subnormal | Demyelinating |
(33 m/s) | |||||||||||
9 | F | 1996 | 4 | Yes | ? | Delayed | No | No | Unable | Subnormal | Demyelinating |
10 | M | 2002 | 4.5 | Yes | Not yet | Delayed | No | No | Unable | Subnormal | Demyelinating |