In order to focus attention on the impact of SMA, August is observed as “Spinal Muscular Atrophy Awareness Month” in the United States. Organized by the patient community organization Cure SMA, the campaign seeks to educate the public and broader medical community about the severe impact of spinal muscular atrophy (SMA) – a rare, genetic disorder. The month-long campaign also places a spotlight on fundraising and other advocacy efforts dedicated to the spinal muscular atrophy community. Spinal muscular atrophy (SMA) is a genetic condition that causes muscle weakness and problems with the control of the movement of muscles due to a loss of nerve cells in the spinal cord and brain stem. Also called a neurological condition and a type of neuron disease, the condition deprives the physical strength of the people by affecting the motor nerve cells in the spinal cord, taking away the ability to walk, eat or breathe. SMA occurs when motor neurons in the spinal cord and the brain stem either do not work or stop working due to changes in genes known as survival motor neurons (nerve cells that control movement) – SMN1 and SMN2. It is estimated that about one in 40-60 adults have a genetic problem that can lead to SMA. A person can only have SMA if both of their parents have a problem with this gene. However, even if both the parents have this problem, there is only a 1 in 4 chance that the child will inherit it. Without prompt treatment, the disease can become fatal in many cases. For correct clinical documentation of this disorder, physicians can consider utilizing outsourced medical billing and coding services.

According to Genetics Home Reference (2019 statistics), spinal muscular atrophy (SMA) affects one in every 8,000-10,000 people around the world. SMA affects approximately 1 in 11,000 new births, and about 1 in every 50 Americans is a genetic carrier. The 2020 month-long event act as a unique platform to engage the SMA community and the general public about the symptoms and severe complications of the disease by hosting a wide variety of events. It aims to spread awareness about the common causes and risk factors associated with the condition and educate people on how to provide the right support to those affected.

People of any race or gender can be affected by SMA. The condition causes muscle wasting and weakness which can make it difficult for a person to even stand, walk, control their head movements and even in some extreme cases, breathe and swallow. There are different types of spinal muscular atrophy – some of which can be present from birth, while others appear later in life. In some cases, the condition can affect life expectancy. SMA comprises four different types and the classification is determined by the developmental signs a child has hit by the time of the disease onset. Types I and II are the most common.

Signs and symptoms of spinal muscular atrophy may depend on its type and severity as well as the age at which the condition develops. In all types of SMA, one of the most common symptoms is muscle weakness and twitching – which occurs when the motor neurons (nerves that control movement) are not able to correct signals to the muscles to contract. Other related symptoms include – difficulty breathing and swallowing, difficulty standing, walking, and possibly sitting and changes in the shape of the limbs, spine, and chest (due to muscle weakness).

Diagnosis of SMA usually begins when caregivers notice any of the above symptoms in a child. Physicians, as part of the diagnosis, will conduct a detailed physical examination, medical history and family history evaluation. They will check whether the muscles are floppy or flaccid, check for deep tendon reflexes and any twitching of the tongue muscle. Other additional diagnosis tests include – muscle biopsy, electromyography (EMG), blood tests and genetic tests. As SMA is an inherited condition, there is currently no specific cure or way to prevent the condition. Medications and other assistive devices and therapies can reduce the severity of symptoms and improve the quality of life of people with SMA. The diagnosis and treatment procedures performed for different types of SMA may need to be carefully documented using the correct medical codes. Medical coding services offered by reliable medical billing companies can help physicians use the correct codes for their billing purposes. ICD-10-CM codes for diagnosing different types of SMA include –

  • G12 Spinal muscular atrophy and related syndromes
  • G12.0 Infantile spinal muscular atrophy, type I [Werdnig-Hoffman]
  • G12.1 Other inherited spinal muscular atrophy
  • G12.2 Motor neuron disease
    • G12.20 Motor neuron disease, unspecified
    • G12.21 Amyotrophic lateral sclerosis
    • G12.22 Progressive bulbar palsy
    • G12.23 Primary lateral sclerosis
    • G12.24 Familial motor neuron disease
    • G12.25 Progressive spinal muscle atrophy
    • G12.29 Other motor neuron disease
  • G12.8 Other spinal muscular atrophies and related syndromes
  • G12.9 Spinal muscular atrophy, unspecified

Spinal Muscular Atrophy Awareness Month was first established to create support and advocacy for those who battle the disease and to seek a cure. However, over the years, the campaign has grown into a nationwide event to showcase SMA support through various local and national events like telling compelling stories, hosting virtual campaigns, using social media platforms to share information about SMA and create funding for more research.

As an annual tradition of this event each year, the SMA community lights candles to memorize those people who died from SMA, and to honor those who are living with SMA. This event occurs at sunset on the second Saturday of August. The 2020 campaign’s candle lighting was scheduled on August 8. However, due to the pandemic, gathering in groups for the lighting is not recommended. But, people can send photos of their lit candle to the Facebook community album.

People can also participate in the 2020 awareness campaign for SMA via social media platforms. You can participate by changing your profile picture to include the official “Cure SMA” banner for awareness month, downloading and sharing “Cure SMA” fact graphics on personal pages, and tagging “Cure SMA” in awareness month events which people and their loved ones joined and use the hashtags #CureSMA and #SMAAwarenessMonth. People can also talk about their experiences on social media, read and share Cure SMA’s Community Spotlight, and submit their stories to – stories@curesma.org.

Observe SMA Awareness month this August and spread awareness about this rare genetic disorder.