The multiple twists in the tale: Brain iron accumulation, facial jerks, and truncal dystonia

      A 42-year-old lady presented with abnormal sudden brief jerky involuntary movements involving both hands and face, which worsened on assuming posture or during action. These movements started at the age of around ten years. Gradually she started noticing posturing of hand with the backward pulling of the neck and upper part of the trunk. These symptoms were very slowly progressive. There was no associated gait difficulty, chewing or swallowing difficulty. There was no history of cognitive decline or psychiatric disturbance. There was no history of similar complaints in the family, and she was born of a non-consanguineous parentage with normal birth and developmental history. On examination, her fundus and extraocular movements were normal. She had asymmetric (left more than right) upper limb myoclonus with dystonic posturing in both upper limbs and mild backward tilt of upper trunk and neck (retrocollis with right laterocaput) (See video 1). She also had prominent orofacial myoclonus involving both the upper and lower half of the face and tongue, which worsened during speech. Different medications were tried, including levodopa, trihexyphenidyl and clonazepam for dystonia and valproate and zonisamide for myoclonus, but there was no response to any medication.



      MRI (Magnetic resonance imaging), SGCE (epsilon-sarcoglycan), M-D (Myoclonus-dystonia), NBIA (Neurodegeneration with brain iron accumulation disorders), PKAN (Pantothenate kinase-2-associated neurodegeneration), DTI (Diffusion tensor imaging), DBS (Deep-brain stimulation)
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