【佳學(xué)基因檢測】X連鎖隱性遺傳痙攣性截癱基因解碼、基因檢測
基因解碼導(dǎo)讀：
X連鎖隱性遺傳痙攣性截癱的英文表述為X linked Recessive Hereditary Spastic Paraplegia，是一種神經(jīng)系統(tǒng)退行性變性疾病。其病理改變主要是脊髓中雙側(cè)皮質(zhì)脊髓束的軸索變性和（或）脫髓鞘，以胸段賊重。臨床表現(xiàn)為雙下肢肌張力增高，腱反射活躍亢進(jìn)，病理反射陽性，呈剪刀步態(tài)。又稱為2型痙攣性截癱。
什么樣的人應(yīng)當(dāng)做X連鎖隱性遺傳痙攣性截癱基因解碼、基因檢測？
發(fā)病年齡多見于兒童期或青春期，但也可見于其他年齡段，男性略多于女性，常有遺傳家族史。臨床表現(xiàn)為緩慢進(jìn)展的雙下肢痙攣性肌無力，肌張力增高，腱反射活躍亢進(jìn)，膝、踝陣攣，病理征陽性，呈剪刀樣步態(tài)等。可伴有視神經(jīng)萎縮、視網(wǎng)膜色素變性、錐體外系癥狀、小腦性共濟(jì)失調(diào)、感覺障礙、癡呆、精神發(fā)育遲滯、耳聾、肌萎縮、自主神經(jīng)功能障礙等，還可有弓形足畸形。
Spastic paraplegia type 2 is part of a group of genetic disorders known as hereditary spastic paraplegias. These disorders are characterized by progressive muscle stiffness (spasticity) and the development of paralysis of the lower limbs (paraplegia). Hereditary spastic paraplegias are divided into two types: pure and complex. The pure types involve the lower limbs. The complex types involve the lower limbs and can also affect the upper limbs to a lesser degree; the structure or functioning of the brain; and the nerves connecting the brain and spinal cord to muscles and sensory cells that detect sensations such as touch, pain, heat, and sound (the peripheral nervous system). Spastic paraplegia type 2 can occur in either the pure or complex form.
People with the pure form of spastic paraplegia type 2 experience spasticity in the lower limbs, usually without any additional features. People with the complex form of spastic paraplegia type 2 have lower limb spasticity and can also experience problems with movement and balance (ataxia); involuntary movements of the eyes (nystagmus); mild intellectual disability; involuntary, rhythmic shaking (tremor); and degeneration (atrophy) of the optic nerves, which carry information from the eyes to the brain. Symptoms usually become apparent between the ages of 1 and 5 years; those affected are typically able to walk and have a normal lifespan.
X連鎖隱性遺傳痙攣性截癱的常規(guī)臨床檢查
頸椎病常有上肢受累、神經(jīng)根性疼痛，頸椎X線片及MRI示頸椎骨質(zhì)增生。多發(fā)性硬化有緩解與反復(fù)的病史、視神經(jīng)炎，MRI示腦部脫髓鞘改變。肌萎縮側(cè)索硬化有上肢肌萎縮、肌束震顫、肌電圖示巨大電位改變。Arnold-Chiari畸形有共濟(jì)失調(diào)表現(xiàn)，頭顱MRI可確診。脊髓小腦型共濟(jì)失調(diào)以共濟(jì)失調(diào)表現(xiàn)為主，還有眼球運(yùn)動(dòng)障礙、構(gòu)音障礙等。本病須與Arnold-Chiari畸形、頸椎病，多發(fā)性硬化、腦性癱瘓和遺傳運(yùn)動(dòng)神經(jīng)元病等鑒別。
X連鎖隱性遺傳痙攣性截癱基因解碼
佳學(xué)基因解碼根據(jù)《人的基因序列變化與人體疾病表征數(shù)據(jù)庫》，發(fā)現(xiàn)并鑒定了導(dǎo)致X連鎖隱性遺傳痙攣性截癱的致病基因。這一基因編碼控制蛋白脂蛋白1的合成以及這一蛋白質(zhì)的另外一個(gè)變體。這兩種蛋白質(zhì)主要位于腦和脊髓（中樞神經(jīng)系統(tǒng)）中，是髓鞘質(zhì)的主要成份。髓鞘質(zhì)是包裹在神經(jīng)外面，為神經(jīng)提供絕緣功能的脂類物質(zhì)。缺乏這一致病基因控制合成的蛋白脂蛋白，將會(huì)使神經(jīng)纖維缺乏髓鞘，損害神經(jīng)纖維的功能，使病人呈現(xiàn)2型痙攣性截癱的表征。
X連鎖隱性遺傳痙攣性截癱基因解碼可以區(qū)分：
- Arnold-Chiari畸形
- 頸椎病
- 多發(fā)性硬化
- 腦性癱瘓
- 遺傳運(yùn)動(dòng)神經(jīng)元病等鑒別
- 多樣的家族性痙攣性截癱之Troyer綜合征
X連鎖隱性遺傳痙攣性截癱的其他名字
2型痙攣性截癱。
在哪做X連鎖鐵粒幼細(xì)胞貧血基因解碼、基因檢測？
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- 2型痙攣性截癱；
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