Ataxia-Deafness-Retardation Syndrome

Clinical Features

Berman et al. (1973) described 3 black brothers with infantile onset of progressive ataxia, hearing loss, mental retardation and signs of both upper and lower motor neuron disease. The disorder is different from the Richards-Rundle syndrome (245100), although the 2 syndromes share the ataxia, deafness, and retardation.

Koletzko et al. (1987) reported 3 sisters, aged 16, 12, and 8 years, the offspring of first-cousin parents, who presented with progressive spinocerebellar ataxia combined with moderate mental retardation, progressive sensorineural hearing loss, and signs of both upper and lower motor neuron disease. Ataxia was noted between 8 and 10 years of age. The parents and all other healthy family members, including 4 unaffected sibs, had straight, dark hair. All 3 affected sibs had red hair. Koletzko et al. (1987) suggested linkage of this disorder with red hair (266300).

Reardon et al. (1993) reported the combination of cerebellar ataxia, sensorineural deafness, and mental retardation in 2 sibships of an inbred Kuwaiti family. The patients had normal plantar and other reflexes without evidence of pyramidal tract involvement. They did not have contractures or muscle wasting of the lower limbs. Reardon et al. (1993) suggested that the disorder is this family was different from that reported by Berman et al. (1973) and Koletzko et al. (1987). Although there was consanguinity in the family, the pedigree was also consistent with X-linked inheritance.