【广东会GDH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，以胸段贼重。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