Autosomal dominant torsion dystonia with onset in infancy

Stewart H. Mostofsky; Peter A. Blasco; Ian J. Butler; William B. Dobyns

doi:10.1016/S0887-8994(96)00169-5

Autosomal dominant torsion dystonia with onset in infancy

Stewart H. Mostofsky, Peter A. Blasco, Ian J. Butler, William B. Dobyns

Pediatric Genetics & Metabolism

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2 Scopus citations

Abstract

We report a man and his daughter who had onset of dystonia during the first year of life, primarily involving their legs and consisting of both sustained postures and rhythmical 2-3 Hz twisting movements. They also had eccentric and irregularly shaped pupils, but no other neurological abnormalities. This disorder differs from all familial dystonia syndromes described in the literature, including classic idiopathic torsion dystonia, which has a later age of onset. This disorder probably represents a new autosomal dominant dystonia syndrome.

Original language	English (US)
Pages (from-to)	245-248
Number of pages	4
Journal	Pediatric Neurology
Volume	15
Issue number	3
DOIs	https://doi.org/10.1016/S0887-8994(96)00169-5
State	Published - Oct 1996

Bibliographical note

Funding Information:
We thank the family for their cooperation and Dr. Torbjoern Nygaard for many helpful comments regarding this article. This work was supported in part by Clinical Research Center Grant No. RR02558 from the University of Texas Medical School, Houston, Texas (to I.J.B.).

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title = "Autosomal dominant torsion dystonia with onset in infancy",

abstract = "We report a man and his daughter who had onset of dystonia during the first year of life, primarily involving their legs and consisting of both sustained postures and rhythmical 2-3 Hz twisting movements. They also had eccentric and irregularly shaped pupils, but no other neurological abnormalities. This disorder differs from all familial dystonia syndromes described in the literature, including classic idiopathic torsion dystonia, which has a later age of onset. This disorder probably represents a new autosomal dominant dystonia syndrome.",

author = "Mostofsky, {Stewart H.} and Blasco, {Peter A.} and Butler, {Ian J.} and Dobyns, {William B.}",

note = "Funding Information: We thank the family for their cooperation and Dr. Torbjoern Nygaard for many helpful comments regarding this article. This work was supported in part by Clinical Research Center Grant No. RR02558 from the University of Texas Medical School, Houston, Texas (to I.J.B.).",

year = "1996",

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doi = "10.1016/S0887-8994(96)00169-5",

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T1 - Autosomal dominant torsion dystonia with onset in infancy

AU - Mostofsky, Stewart H.

AU - Blasco, Peter A.

AU - Butler, Ian J.

AU - Dobyns, William B.

N1 - Funding Information: We thank the family for their cooperation and Dr. Torbjoern Nygaard for many helpful comments regarding this article. This work was supported in part by Clinical Research Center Grant No. RR02558 from the University of Texas Medical School, Houston, Texas (to I.J.B.).

PY - 1996/10

Y1 - 1996/10

N2 - We report a man and his daughter who had onset of dystonia during the first year of life, primarily involving their legs and consisting of both sustained postures and rhythmical 2-3 Hz twisting movements. They also had eccentric and irregularly shaped pupils, but no other neurological abnormalities. This disorder differs from all familial dystonia syndromes described in the literature, including classic idiopathic torsion dystonia, which has a later age of onset. This disorder probably represents a new autosomal dominant dystonia syndrome.

AB - We report a man and his daughter who had onset of dystonia during the first year of life, primarily involving their legs and consisting of both sustained postures and rhythmical 2-3 Hz twisting movements. They also had eccentric and irregularly shaped pupils, but no other neurological abnormalities. This disorder differs from all familial dystonia syndromes described in the literature, including classic idiopathic torsion dystonia, which has a later age of onset. This disorder probably represents a new autosomal dominant dystonia syndrome.

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ER -

Autosomal dominant torsion dystonia with onset in infancy

Abstract

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