【佳学基因检测】X连锁隐性遗传痉挛性截瘫基因解码、基因检测
基因解码导读：
X连锁隐性遗传痉挛性截瘫的英文表述为X linked Recessive Hereditary Spastic Paraplegia，是一种神经系统退行性变性疾病。其病理改变主要是脊髓中双侧皮质脊髓束的轴索变性和（或）脱髓鞘，以胸段最重。临床表现为双下肢肌张力增高，腱反射活跃亢进，病理反射阳性，呈剪刀步态。又称为2型痉挛性截瘫。
什么样的人应当做X连锁隐性遗传痉挛性截瘫基因解码、基因检测？
发病年龄多见于儿童期或青春期，但也可见于其他年龄段，男性略多于女性，常有遗传家族史。临床表现为缓慢进展的双下肢痉挛性肌无力，肌张力增高，腱反射活跃亢进，膝、踝阵挛，病理征阳性，呈剪刀样步态等。可伴有视神经萎缩、视网膜色素变性、锥体外系症状、小脑性共济失调、感觉障碍、痴呆、精神发育迟滞、耳聋、肌萎缩、自主神经功能障碍等，还可有弓形足畸形。
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连锁隐性遗传痉挛性截瘫的常规临床检查
颈椎病常有上肢受累、神经根性疼痛，颈椎X线片及MRI示颈椎骨质增生。多发性硬化有缓解与复发的病史、视神经炎，MRI示脑部脱髓鞘改变。肌萎缩侧索硬化有上肢肌萎缩、肌束震颤、肌电图示巨大电位改变。Arnold-Chiari畸形有共济失调表现，头颅MRI可确诊。脊髓小脑型共济失调以共济失调表现为主，还有眼球运动障碍、构音障碍等。本病须与Arnold-Chiari畸形、颈椎病，多发性硬化、脑性瘫痪和遗传运动神经元病等鉴别。
X连锁隐性遗传痉挛性截瘫基因解码
佳学基因解码根据《人的基因序列变化与人体疾病表征数据库》，发现并鉴定了导致X连锁隐性遗传痉挛性截瘫的致病基因。这一基因编码控制蛋白脂蛋白1的合成以及这一蛋白质的另外一个变体。这两种蛋白质主要位于脑和脊髓（中枢神经系统）中，是髓鞘质的主要成份。髓鞘质是包裹在神经外面，为神经提供绝缘功能的脂类物质。缺乏这一致病基因控制合成的蛋白脂蛋白，将会使神经纤维缺乏髓鞘，损害神经纤维的功能，使病人呈现2型痉挛性截瘫的表征。
X连锁隐性遗传痉挛性截瘫基因解码可以区分：
- Arnold-Chiari畸形
- 颈椎病
- 多发性硬化
- 脑性瘫痪
- 遗传运动神经元病等鉴别
- 多样的家族性痉挛性截瘫之Troyer综合征
X连锁隐性遗传痉挛性截瘫的其他名字
2型痉挛性截瘫。
在哪做X连锁铁粒幼细胞贫血基因解码、基因检测？
请致电4001601189，得到基因解码专业人员的帮助。
- 2型痉挛性截瘫；
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