概述
What is Spinal Muscular Atrophy?
Spinal muscular atrophy (SMA) is a disorder that degrades the central nervous system, caused by a mutation in the survival motor neuron (SMN) on the 5th chromosome. The mutation causes muscles to not receive signals from the nerve cell located in the spinal cord that controls voluntary muscle movement. This ultimately leads to your body continuously becoming weaker, which may result in a decrease in daily activities such as breathing, swallowing, eating, and walking.
SMA has five subtypes from 0 to 4 based on the age at the onset of symptoms. SMA type 0, which is rare, begins prior to birth and is the most severe. SMA type 1 is the most common type, with symptoms typically appearing before 6 months of age. Onset of SMA type 2 is often between 3 and 15 months of age and less severe than type 1. SMA type 3 has a more varied age of onset, ranging between 18 months and adulthood. Type 4 SMA is a rare, mild form of SMA, which may be diagnosed in late adolescence or adulthood.
How common is Spinal Muscular Atrophy?
SMA affects approximately 1 in 11,000 births in the U.S., and about 1 in every 50 Americans is a genetic carrier.1 A pan-ethnic study in 2012 found that carrier frequency in North America was highest in white individuals (1 in 47) and lowest in Hispanic individuals (1 in 68) and Black individuals (1 in 72).2
Questions regarding your Spinal Muscular Atrophy therapy?
You can reach the Accredo Spinal Muscular Atrophy care team between 8am to 11pm Monday through Friday and Saturday 8am to 5pm Eastern Standard Time.
24 小时客户服务中心
症状
What are the symptoms of Spinal Muscular Atrophy?1 2
SMA symptoms can vary from mild to severe based on subtype. The primary symptom of SMA is muscle weakness, which can lead to a person needing assistance with daily tasks such as cleaning, walking, eating, and driving. The muscles that are most affected are those closest to the center of the body. These muscles include those of the shoulders, hips, thighs, and upper back. The lower limbs seem to be affected more than the upper limbs, and deep tendon reflexes are decreased. Other symptoms can include gastrointestinal symptoms, such as gastroesophageal reflux and poor bowel motility or constipation.
How is Spinal Muscular Atrophy diagnosed?2
Newborn screening for SMA is being implemented throughout the United States and is currently conducted in 48 states. If the patient is already born, SMA should be suspected in any infant with unexplained weakness or hypotonia. To diagnose SMA, genetic testing is utilized to detect mutations in the SMN1 gene.
Carrier testing for SMA is also available using a molecular genetic test to identify the most common SMN1 mutation associated with SMA.
- 1Mercuri E, Sumner CJ, Muntoni F, Darras BT, Finkel RS. Spinal muscular atrophy. Nat Rev Dis Primers. 2022 Aug 4;8(1):52. doi: 10.1038/s41572-022-00380-8. PMID: 35927425.
- 2Spinal muscular atrophy (SMA) - diseases. Muscular Dystrophy Association. 访问日期：9/15/2023。Muscular Dystrophy Association
药品
脊髓性肌萎缩
The following specialty medications are available at Accredo, a specialty pharmacy for Spinal Muscular Atrophy
节约护理费用
您还可获得经济援助协调服务，以承担您的部分药品费用，包括生产商和社区计划。Accredo 代表可以帮助您找到适合您的计划。
| 药品 | 经济援助计划联系信息 |
|---|---|
| 援助基金 |
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财政指导
急救性质的特殊药品很昂贵。通过此视频，了解 Accredo 团队如何帮助个人找到可以负担他们救命药品费用的方式。
查找支持
There are many organizations that support research and advocacy for Spinal Muscular Atrophy. 下面是其中部分组织。
Spinal Muscular Atrophy Organizations
政府组织
团队介绍
Accredo’s Spinal Muscular Atrophy care team is dedicated to serving you and we understand the complexity of your condition. 我们受过专业培训的临床医生在东部标准时间周一至周五上午 8 点至晚上 11 点和周六上午 8 点至下午 5 点，可以为您解答任何疑问。You can reach the Spinal Muscular Atrophy dedicated care team at
我们为什么要这样做
Accredo 为慢性和复杂病症患者提供支持，并帮助他们过上最好的生活。请观看我们的视频，了解我们为什么为患者尽心尽力。