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August is National Spinal Muscular Atrophy Awareness Month

Spinal Muscular Atrophy Awareness MonthEvery year, the month of August is observed as National Spinal Muscular Atrophy Awareness Month (SMA) in the United States. Since 1996, this month-long campaign is coordinated by Families of Spinal Muscular Atrophy (FSMA), a national charity dedicated to supporting people affected by SMA. The campaign aims to generate public awareness about the disease and to promote research to develop new therapies to treat and ultimately cure the condition. SMA Awareness Month also aims to increase resources for affected people by supporting research and advancing care.

Spinal Muscular Atrophy (SMA), the leading genetic cause of deaths in children, causes muscle damage and weakness and progressive loss of movement. Reports suggest that SMA affects approximately 1 in 10,000 babies in the United States and that about 1 in every 50 Americans is a genetic carrier. The disease can affect any race or gender.

There are four different types of SMA and the classification is based on the age at which symptoms appear and the extent of physical mobility that a person has. Type I is the most severe and affects babies less than 6 months old. Type II is less severe than Type I. Type III also affects children and is the mildest. Type IV affects adults. While Types I and II affect life expectancy, Types III and IV do not.

The disease progressively destroy lower motor neurons (nerve cells in the brain stem and spinal cord) that controls the essential voluntary muscle activity which affects speaking, walking, breathing, crawling, head and neck control and even swallowing. Care for patients with SMA involves controlling symptoms and preventative rehabilitation including occupational and physical therapy and speech therapy.

Generally, most people are not aware about SMA until it directly affects them. The American College of Medical Genetics (ACMG) recommends that all couples need to undergo genetic carrier testing for SMA, regardless of race or ethnicity. Generally, testing is offered to all couples who are planning a pregnancy or who are currently pregnant, with the primary goal of allowing these couples to make informed reproductive decisions.

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