Learn about spinal muscular atrophy (SMA) disease, which causes loss of motor function and muscle atrophy, and care considerations for children and adults with SMA.
Spinal Muscular Atrophy (SMA) is an inherited disorder that causes muscle weakness as a result of damage to motor neurons. Read on to learn more about symptoms, treatments and prognoses.
Spinal muscular atrophy (SMA) is a neurodegenerative disorder caused by mutations in SMN1 (encoding survival motor neuron protein (SMN)). Reduced expression of SMN leads to loss of α-motor neurons, severe muscle weakness and often early death. Standard-of-care recommendations for multidisciplinary ...
Spinal Muscular Atrophy(SMA),即脊髓性肌萎缩,是一种罕见且严重的遗传性神经肌肉退行性疾病。以下是对该疾病的详细解析: 一、疾病概述 SMA由基因突变引发,特别是运动神经元存活基因1(SMN1)的纯合缺失或突变,导致肌肉弱化、功能减退,且可能侵犯全身各种肌肉。该疾病的症状通常在儿童...
Signs and Symptoms 4 Types of SMA Diagnosis Treatment Options Comments More Spinal muscular atrophy (SMA) is a hereditary disorder characterized by progressive muscle weakening and atrophy that destroys motor neurons. Spinal muscular atrophy (SMA) is a hereditary disorder characterized by progre...
SMN蛋白表达不足将导致脊髓前角运动神经元变性,继而造成肌肉神经源性肌萎缩,罹患脊髓性肌萎缩(Spinal Muscular Atrophy, SMA),是中国人最常见的常染色体隐性遗传的神经肌肉病。中国人群1174对夫妇中既有1对有生育患儿风险,风险值为1/4。95%的SMA患者是由SMN1基因第7外显子的纯合缺失所致。 临床表现 SMA患者临床主...
sittingbase. Efforts to maintain the reduction of the hips for good sitting balance may prevent pain and pelvic obliquity. However,Sporer and Smith (2003)recommended observation instead of surgical intervention because of the small number of patients who had symptoms or seating problems in their ...
脊髓性肌萎缩(Spinal Muscular Atrophy,SMA)是一种基因突变导致脊髓前角细胞变性引起肌无力和肌萎缩等临床症状的一组疾病。根据疾病严重程度及发病年龄,1992年在欧洲神经肌肉疾病中心召开的SAM国际研讨会将其分为4个类型(Ⅰ、Ⅱ、Ⅲ、Ⅳ)。据统计...
Spinal muscular atrophyAdolescentAdultChildChildPreschoolFemaleFollow-Up StudiesHumanInfantMaleMondkar VP, George R.doi:10.1016/0304-4017(90)90128-XMondkar VGeorge RJournal of Postgraduate Medicine
Spinal Muscular Atrophy Outlook The outlook depends on when symptoms started and how severe they are. If your child hastype 1, a severe form of SMA, they may start having symptoms anywhere from birth to age 6 months. In general, most babies with this type start showing signs of the diseas...