14/03/2025
The SMA after treated with gene therapy,can crawl and stand with support .This is amazing result .
Look at the video attached.
What is SPINA MUSCULAR ATROPHY ?
Spinal muscular atrophy (SMA) is a rare neuromuscular disorder that results in the loss of motor neurons and progressive muscle wasting. It is usually diagnosed in infancy or early childhood and if left untreated it is the most common genetic cause of infant death.It may also appear later in life and then have a milder course of the disease. The common feature is progressive weakness of voluntary muscles, with arm, leg and respiratory muscles being affected first. Associated problems may include poor head control, difficulties swallowing, scoliosis, and joint contractures.
1.Type I SMA (Werdnig–Hoffmann) has clinical onset within the first three months of life, usually leading to respiratory failure and death by two years of age.
2.The onset of Type II SMA is 6-18 months of age, and the affected children may sit independently but cannot stand or walk, with 70% surviving beyond 25 years of age.
3.Patients with Type III SMA (Kugelberg– Welander), with the onset at ≥18 months, have difficulty climbing stairs and running and often have a normal lifespan.
4.Type IV SMA or adult-onset SMA is described with slow progression of muscle weakness beginning at around 30 years of age, and with no reduction in life expectancy.
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什么是脊髓性肌萎缩症?
脊髓性肌萎缩症(Spinal Muscular Atrophy,简称SMA)是一种罕见的神经肌肉疾病,会导致运动神经元丧失和进行性肌肉萎缩。此病通常在婴儿期或幼儿期被确诊,若未及时治疗,是导致婴儿死亡最常见的遗传性病因。该病也可能在成年后发病,且病情发展较为温和。其共同特征是自主肌肉的进行性无力,手臂、腿部及呼吸肌往往最先受到影响。相关症状可能包括头部控制能力差、吞咽困难、脊柱侧弯以及关节挛缩。
脊髓性肌萎缩症(SMA)根据发病年龄和严重程度分为以下类型:
1. **I型SMA(韦德尼希-霍夫曼病)**:临床发病于出生后三个月内,通常因呼吸衰竭在2岁前致命。
2. **II型SMA**:发病年龄为6-18个月,患儿可独坐但无法站立或行走,约70%的患者可存活至25岁以上。
3. **III型SMA(库格尔贝格-韦兰德病)**:发病于18个月及以上,表现为爬楼梯和奔跑困难,但寿命通常不受影响。
4. **IV型SMA(成人型)**:约30岁左右缓慢出现肌无力症状,疾病进展较缓,预期寿命与常人无异。
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