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
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
Hirsch NP: Respiratory insufficiency in Charcot-Marie-Tooth disease.
Rosenberg RN, Chutorian A: Familial opticoacoustic nerve degeneration and