Table 1

 Summary of the clinical features of dilated cardiomyopathy with ataxia syndrome

Patient NoSexAlive at (demise at)DCMLong QTIUGRFTT/ growth failureCerebellar signs/ataxiaMicrocytic anaemiaRaised AST/ALTHepatic steatosisMale genitaliaMild/ borderline MROptic atrophyMalformationsOther
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.
6M(8 m)++++CDMullerian remnants
1M13 y++++++C+
5M(4 m)++++C,HD, A
22F(23 m)+++
21F(13 m)+++++++
7M(4 y)+++++C,H+
8M(16 m)+++++C
19M(18 m)+++++C+
16M11 y+++++++
20F(3 y)+++++
10M21 y+++++C,H+++Arachnoid cyst
23F(4 y)+++++Hypothyroidism
11M13 y+++C,H+
9F(9 m)+++
24F10 y++++++Seizures
12M22 y++++
13F19 y+++
25M(8 y)++++++C+Seizures