Table 1 Summary of the clinical features of dilated cardiomyopathy with ataxia syndrome.
Patient No | Sex | Alive at(demise at) | DCM | Long QT | IUGR | FTT/growth failure | Cerebellar signs/ataxia | Microcytic anaemia | RaisedAST/ALT | Hepatic steatosis | Male genitalia | Mild/borderline MR | Optic atrophy | Malformations | Other |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
6 | M | (8 m) | + | + | + | + | C | D | Mullerian remnants | ||||||
1 | M | 13 y | + | + | + | + | + | + | C | + | |||||
5 | M | (4 m) | + | + | + | + | C,H | D, A | |||||||
22 | F | (23 m) | + | + | + | ||||||||||
21 | F | (13 m) | + | + | + | + | + | + | + | ||||||
7 | M | (4 y) | + | + | + | + | + | C,H | + | ||||||
8 | M | (16 m) | + | + | + | + | + | C | |||||||
19 | M | (18 m) | + | + | + | + | + | C | + | ||||||
16 | M | 11 y | + | + | + | + | + | + | + | ||||||
20 | F | (3 y) | + | + | + | + | + | ||||||||
10 | M | 21 y | + | + | + | + | + | C,H | + | + | + | Arachnoid cyst | |||
23 | F | (4 y) | + | + | + | + | + | Hypothyroidism | |||||||
11 | M | 13 y | + | + | + | C,H | + | ||||||||
9 | F | (9 m) | + | + | + | ||||||||||
24 | F | 10 y | + | + | + | + | + | + | Seizures | ||||||
12 | M | 22 y | + | + | + | + | |||||||||
13 | F | 19 y | + | + | + | ||||||||||
25 | M | (8 y) | + | + | + | + | + | + | C | + | Seizures |
A, atrial septal defect; ALT, alanine transaminase; AST, aspartate transaminase; C, cryptorchidism; D, diaphragmatic eventration; DCM, dilated cardiomyopathy; F, female; FTT, failure to thrive; H, hypospadias; IUGR, intrauterine growth retardation; M, male; m, months; MR, mental retardation; y, years.