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At a glance

A very rare neurological disorder, first described by Reardon, comprised of ataxia, deafness, mental retardation, and permanently flexed fingers.

Synonyms

Ataxia Deafness Reardon Type; Ataxia-Deafness-Retardation (ADR) Syndrome.

Incidence

Fewer than 20 cases worldwide.

Genetic inheritance

Autosomal recessive. Consanguinity.

Diagnosis

Diagnosis is clinical on the association of the ataxia, mental retardation, progressive sensorineural deafness. In addition to the three principal signs that make diagnosis, hypotonia an abnormal gait can also be observed.

Anesthetic considerations

Evaluate the significance of the muscle weakness and the degree of deafness. Careful intraoperative positioning should be used because of hypotonia. Previous knowledge of gait abnormality intensity is necessary before authorizing board discharge in day surgery. Aminoglycosides should be used with great caution because of the progressive deafness.

Other condition to be considered

  • Richards Rundle Syndrome: Characterized by mental retardation, underdevelopment of secondary sex characteristics, deafness, ataxia, and peripheral muscle wasting. Increased urinary excretion of beta-aminoisobutyric acid, and low urinary excretion of neutral 17-ketosteroids.

References

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Reardon  W, Wilson  J, Cavanagh  N,  et al: A new form of familial ataxia, deafness, and mental retardation. J Med Genet 30:694, 1993.  [PubMed: 8411058]

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