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The Cerebellum

, 8:22 | Cite as

Prominent Oromandibular Dystonia and Pharyngeal Telangiectasia in Atypical Ataxia Telangiectasia

  • Fatima Carrillo
  • Susanne A. Schneider
  • A. Malcolm R. Taylor
  • Venkataramanan Srinivasan
  • Raj Kapoor
  • Kailash P. BhatiaEmail author
Article

Abstract

Ataxia telangiectasia (A-T) typically presents with early-onset progressive cerebellar ataxia, oculomotor apraxia and later, oculo-cutaneous telangiectasia. Extrapyramidal symptoms, apart from chorea, are rare. In this paper, we report a case of A-T with an atypically mild and slowly progressive disease course. Although by history there was mild gait clumsiness in early childhood, the leading problem was that of dystonia with onset at age 15, in the absence of gross gait imbalance or ocular motor apraxia. Dystonia was generalized and with prominent oromandibular involvement. Unusually, a leash of telangiectasia was present on the posterior pharyngeal wall, while other features frequently associated with A-T were absent.

Keywords

Dystonia Ataxia telangiectasia Atypical presentation ATM protein Radiosensitivity Oromandibular/oro-bulbar 

Notes

Acknowledgments

S.A.S. was supported by the Brain Research Trust, UK. AMRT thanks Cancer Research UK and VS the Ataxia Telangiectasia Society of UK for continued support. We also thank Dr Jim Last for technical advice and help.

Supplementary material

ESM 1

There is prominent craniocervical dystonia with torticollis to the right and oromandibular involvement with intermittent tongue protrusion which interferes with her speech. When keeping the arms outstretched, there is mild dystonia of the hands. There is no ataxia on the finger nose test. Her gait is narrow-based and there is no difficulty with tandem gait or standing on one foot. Oral examination demonstrates telangiectasia on the left posterior pharyngeal wall. Her eye movements are normal without oculomotor apraxia. (MPG 5.88 MB)

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Copyright information

© Springer Science+Business Media, LLC 2008

Authors and Affiliations

  • Fatima Carrillo
    • 1
    • 2
  • Susanne A. Schneider
    • 1
    • 3
  • A. Malcolm R. Taylor
    • 4
  • Venkataramanan Srinivasan
    • 4
  • Raj Kapoor
    • 3
  • Kailash P. Bhatia
    • 1
    • 3
    Email author
  1. 1.Sobell Department of Motor Neuroscience and Movement Disorders, Institute of NeurologyUniversity College LondonLondonUK
  2. 2.Servicio de NeurologíaSevilleSpain
  3. 3.The National Hospital for Neurology and NeurosurgeryLondonUK
  4. 4.CR-UK Institute for Cancer StudiesThe University of BirminghamBirminghamUK

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