B.腦部或神經系統異常 Disorders of the brain or nervous system
【罕病分類】│【回目錄】
| •多發性硬化症/泛視神經脊髓炎 Multiple sclerosis, MS/ Neuromyelitis optica spectrum disorders, NMOSD |
| •肌萎縮性側索硬化症 Amyotrophic lateral sclerosis (ALS) |
| •共濟失調微血管擴張症候群 Ataxia telangiectasia |
| •亨丁頓氏舞蹈症 Huntington disease (又稱Huntington's chorea) |
| •雷特氏症 Rett syndrome |
| •脊髓性肌肉萎縮症 Spinal muscular atrophy |
| •脊髓小腦退化性動作協調障礙 Spinocerebellar ataxia |
| •結節性硬化症 Tuberous sclerosis |
| •先天性痛不敏感症合併無汗症 Congenital insensitivity to pain with anhidrosis (CIPA) |
| •神經纖維瘤症候群第二型 Neurofibromatosis type Ⅱ |
| •Alexander氏病 Alexander disease |
| •僵體症候群 Stiffperson syndrome |
| •遺傳性痙攣性下身麻痺 Hereditary spastic paraplegia |
| •Joubert氏症候群(家族性小腦蚓部發育不全) Joubert syndrome |
| •Pelizaeus-Merzbacher氏症(慢性兒童型腦硬化症) Pelizaeus-Merzbacher disease |
| •夏柯-馬利-杜斯氏症 Charcot-Marie-Tooth disease |
| •甘迺迪氏症(脊髓延髓性肌肉萎縮症) Kennedy disease |
| •家族性澱粉樣多發性神經病變 Familial amyloidotic polyneuropathy |
| •Moebius症候群 Moebius syndrome |
| •Mcleod症候群 Mcleod syndrome |
| •Aicardi-Goutieres症候群 Aicardi-Goutieres syndrome |
| •MECP2綜合症候群 Methyl CpG binding protein 2 duplication syndrome (MECP2 duplication syndrome) |
| •Dravet症候群 Dravet syndrome, DS |
| •腦白質消失症 Vanishing white matter disease |
| •泛酸鹽激酶關聯之神經退化性疾病 Pantothenate kinase associated neurodegeneration (PKAN) |
| •磷脂質脂解酶A2關聯之神經退化性疾病 Phospholipase A2-associated neurodegeneration (PLAN) |
| •皮特-霍普金斯症候群 Pitt-Hopkins syndrome |
| •Beta螺旋狀蛋白關聯之神經退化疾病 Beta-Propeller protein-associated neurodegeneration (BPAN) |
| •嬰兒型上行性遺傳性痙攣性麻痺 Infantile-onset ascending hereditary spastic paralysis, IAHSP |
| •先天性中樞性換氣不足症候群 Congenital central hypoventilation syndrome |
| •Von Hippel-Lindau症候群 Von Hippel-Lindau disease |
| •Basilicata-Akhtar症候群 Basilicata-Akhtar syndrome |
| •舞蹈症-棘紅細胞增多症 Chorea-acanthocytosis |