Elsevier

Journal of the Neurological Sciences

Volume 8, Issue 1, January–February 1969, Pages 85-100
Journal of the Neurological Sciences

A hereditary neurological disease with facial spasm

https://doi.org/10.1016/0022-510X(69)90043-4Get rights and content

Abstract

A syndrome is described consisting of the following symptoms and signs: hemifacial spasm (unilateral or bilateral and combined with weakness of the facial muscles), optic atrophy, pupillary changes of the Argyll Robertson type, a disturbance of the movements of the eyes without diplopia, reduced caloric reactions, slight to moderate peripheral paresis in the legs, diminished or absent tendon reflexes, reduced motor conduction velocity in the peripheral nerves, foot deformity of the Friedreich type, and trophic ulcers on the feet.

Some of the symptoms and signs seem to appear at a pre-school age or nearly adult life. The disease is slowly progressive. The main symptoms are known to have been present for six generations in one single family, which immigrated to Sweden in the 17th century from an area now situated in Belgium. The hereditary trait is dominant.

The syndrome seems to be a unique clinical entity, from a clinical and neurophysiological point of view belonging to the group of hereditary polyneuropathies. The underlying cause is unknown. No causal therapy exists but the facial hemispasm seems to respond well to treatment with carbamazepine (Tegretol).

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