The entity of young onset primary cervical dystonia.
Primary cervical dystonia is typically an adult onset condition with symptom onset usually in the fifth and sixth decade. Young onset (<28 years) is uncommon. We report 76 patients with cervical dystonia as a presenting or predominant feature, with disease onset before the age of 28. Male to female ratio was 1.24:1 and the mean onset age was 21 (3-28) years. A family history of tremor and/or dystonia was noted in 26.3%. Depression and anxiety attacks were present in 23.7%. Prior injury or surgery involving the neck was noted in 17.1%. 23 (30.3%) experienced spontaneous partial or complete remissions within the first 5 years of onset, but all relapsed. Cervical dystonia was predominantly rotational torticollis. 30% developed extra-nuchal dystonia and tremor affecting contiguous parts but in only one there was spread to affect the legs. All 15 patients tested for the DYT1 gene were negative. 74% responded favorably to botulinum toxin injections, whereas none of the 13 patients treated with L-Dopa preparations had a beneficial response. The distinctive features of this entity are discussed.
Koukouni
Vasiliki
V
Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, University College London, London, United Kingdom.
Martino
Davide
D
Arabia
Gennarina
G
Quinn
Niall P
NP
Bhatia
Kailash P
KP
D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D019274:Botulinum Toxins, Type A / Q000627:therapeutic use; D002648:Child; D002675:Child, Preschool; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D008297:Male; D008487:Medical History Taking; D009068:Movement; D009465:Neuromuscular Agents / Q000627:therapeutic use; D014103:Torticollis / Q000188:drug therapy / Q000503:physiopathology*
D009465:Neuromuscular Agents; D019274:Botulinum Toxins, Type A