Cervical dystonia as the presenting symptom of novel calcium voltage-gated channel subunit alpha1A mutation

A woman in her mid-50s presented with an uncomfortable pulling sensation in the right neck that worsened with movement. This was diagnosed as cervical dystonia and treated symptomatically for several years through trials of botulinum toxin. As the years progressed, her symptoms worsened and evolved with the patient eventually experiencing debilitating ataxia requiring use of a wheelchair for mobility, severe dysphagia requiring the use of a feeding tube for nutrition and dysarthria requiring the need of a family member for translation. Through genetic testing, the patient was diagnosed with spinocerebellar ataxia-CACNA1A (SCA-CACNA1A, previously SCA6). The patient had an unusual presentation of the syndrome with dystonia having been the initial symptom, resulting in the patient failing to receive diagnostic clarification of her symptoms until 10 years after the onset of symptoms. Clinicians should consider SCA-CACNA1A in their differential diagnoses if a patient presents with dystonia of unknown aetiology.