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Dopamine-responsive dystonia (DRD), also known as hereditary progressive dystonia with diurnal fluctuation, Segawa's disease, or Segawa's dystonia, is a genetic movement disorder which usually manifests itself during early childhood at around ages 5–8 years (variable start age). Characteristic symptoms are increased muscle tone (dystonia, such as clubfoot) and Parkinsonian features, typically absent in the morning or after rest but worsening during the day and with exertion. Children with DRD are often misdiagnosed as having cerebral palsy. The disorder responds well to treatment with levodopa. ==Symptoms== The disease typically starts in one limb, typically one leg. Progressive dystonia results in clubfoot and tiptoe walking. The symptoms can spread to all four limbs around age 18, after which progression slows and eventually symptoms reach a plateau. There can be regression in developmental milestones (both motor and mental skills) and failure to thrive in the absence of treatment. In addition, DRD is typically characterized by signs of parkinsonism that may be relatively subtle. Such signs may include slowness of movement (bradykinesia), tremors, stiffness and resistance to movement (rigidity), balance difficulties, and postural instability. Approximately 25 percent also have abnormally exaggerated reflex responses (hyperreflexia), particularly in the legs. These symptoms can result in a presentation that is similar in appearance to that of Parkinson's Disease. Many patients experience improvement with sleep, are relatively free of symptoms in the morning, and develop increasingly severe symptoms as the day progresses (i.e., diurnal fluctuation). Accordingly, this disorder has sometimes been referred to as "progressive hereditary dystonia with diurnal fluctuations." Yet some DRD patients do not experience such diurnal fluctuations, causing many researchers to prefer other disease terms. ;Other symptoms - footwear * excessive wear at toes, but little wear on heels, thus replacement of shoes every college term/semester. ;Other symptoms - handwriting * near normal handwriting at infants/kindergarten (ages 3–5 school) years. * poor handwriting at pre-teens (ages 8–11 school) years. * very poor (worse) handwriting during teen (qv GCSE/A level-public exams) years. * bad handwriting (worsening) during post-teen (qv university exams) years. * very bad handwriting (still worsening) during adult (qv post-graduate exams) years. * worsening pattern of sloppy handwriting best observed by school teachers via termly reports. * child sufferer displays unhappy childhood facial expressions (depression.?) 抄文引用元・出典: フリー百科事典『 ウィキペディア（Wikipedia）』 ■ウィキペディアで「Dopamine-responsive dystonia」の詳細全文を読む スポンサード リンク
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