Adult-onset dystonia with marfanoid features

A 43-year-old Asian American man with asthma and hypertension was referred to the movement disorder center with a 5-year history of gradually progressive action-induced ankle inversion followed by trunk tightness and painful neck twisting with right shoulder elevation. He was born in the United States and successfully graduated college as a B/C student with mild learning difficulties. He always had disproportionally long limbs and digits and at age 12 developed ectopia lentis (medial-inferior displacement). Numerous ocular surgeries were performed including intraocular lens exchange with iris fixation. Marfan syndrome was previously diagnosed based on physical findings. There was no family history of Marfan syndrome, marfanoid features, or early death due to aortic dissection. FBN1 mutations were not tested and serial echocardiograms demonstrated no aortic root dilation. Diagnosis was later refined to ectopia lentis syndrome per updated guidelines. At age 29, he required allograft repair of an anterior cruciate ligament following minor impact. Four years later, while walking, he had musculoskeletal trauma in the left foot with subsequent toe extension weakness. Nerve conduction studies confirmed absence of compound motor action potentials in the left peroneal nerve lateral terminal branch. At age 38, he developed left foot pain with tendency for dorsiflexion and ankle inversion when walking. Severity gradually progressed and tightness extended to the trunk within 2 years. At age 41, he developed elevation of the right shoulder and several weeks later rightward rotation of the neck and back. Dystonia gradually progressed. Symptoms were exacerbated by stress but not relieved by alcohol or muscle relaxers.