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A very rare neurodegenerative disorder. Clinical features include deafness, polyneuropathy, and optic atrophy. The distal muscular atrophy resembles those observed in Charcot-Marie-Tooth Disease.

Optic Atrophy Polyneuropathy and Deafness Syndrome.

Very rare; inheritance not fully elucidated. X-linked semi-dominant; however, autosomal dominant and autosomal recessive forms of Charcot-Marie-Tooth disease with deafness have also been reported.

Diagnosis is based on clinical criteria, including a rapidly progressive polyneuropathy with distal muscular atrophy associated with blindness caused by optic nerve atrophy and neurosensorial deafness. Paraparesis is frequent.

Check respiratory function (clinical, chest radiographs, arterial blood gas analysis); postoperative ventilatory support may be necessary. Normal response to neuromuscular blocking agents (atracurium and mivacurium tested). Succinylcholine is best avoided considering muscle anomalies.

Charcot-Marie-Tooth Disease: Characterized by muscle weakness and atrophy, most prominent in the legs and the small muscles of the hands. Patients may remain active and have a normal life span. Segmental demyelination of peripheral nervous system including the axons represent classic features of this medical condition. Symptoms usually begin gradually between middle childhood and age 30 years. The most incapacitating symptom is “foot drop,” producing a slapping gait and the associated paresthesias. A decrease in vibration, pain, and thermal sensation in the hand, foot, and lower part of the leg that manifest following a distribution pattern of glove and stocking shape. The disease is slowly progressive, but may arrest spontaneously.

Antognini JF: Anesthesia for Charcot-Marie-Tooth disease: A review of 86 cases. Can J Anaesth 39:398, 1992.  [PubMed: 1563065]
Hirsch NP: Respiratory insufficiency in Charcot-Marie-Tooth disease. Anesthesia 53:1034, 1998.  [PubMed: 9893560]
Rosenberg RN, Chutorian A: Familial opticoacoustic nerve degeneration and polyneuropathy. Neurology 17:827, 1967.  [PubMed: 6069085]

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