Prominent oromandibular dystonia and pharyngeal telangiectasia in atypical ataxia telangiectasia.
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.
Carrillo
Fatima
F
Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, University College London, London, UK.
Schneider
Susanne A
SA
Taylor
A Malcolm R
AM
Srinivasan
Venkataramanan
V
Kapoor
Raj
R
Bhatia
Kailash P
KP
D000293:Adolescent; D001260:Ataxia Telangiectasia / Q000150:complications* / Q000235:genetics / Q000503:physiopathology*; D018797:Cell Cycle Proteins / Q000235:genetics; D002460:Cell Line; D002524:Cerebellar Ataxia / Q000150:complications* / Q000503:physiopathology*; D007446:Chromosome Inversion; D002874:Chromosome Mapping; D002897:Chromosomes, Human, Pair 7; D018450:Disease Progression; D004421:Dystonia / Q000235:genetics*; D005260:Female; D020234:Gait Ataxia / Q000235:genetics / Q000503:physiopathology; D006801:Humans; D007571:Jaw Diseases / Q000209:etiology; D008214:Lymphocytes / Q000473:pathology; D008336:Mandibular Diseases / Q000235:genetics*; D010608:Pharyngeal Diseases / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide
D018797:Cell Cycle Proteins