This Rare Disease Catches Infants Within First 6 Months, Could Go Unnoticed Until It’s Too Late

We must understand that while rare diseases, by definition, affect a small portion of the population, they collectively impact a significant portion of the global population.

Spinal Muscular Atrophy (SMA) is a rare genetic disorder that affects the nerve cells of the spinal cord, causing progressive muscle weakness.

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By Dr. Kaushik Mandal

Rare diseases very often remain in the shadows, as common people have limited awareness about them. Despite the increased number of patients suffering from rare diseases in India, the awareness of these conditions is low. We must understand that while rare diseases, by definition, affect a small portion of the population, they collectively impact a significant portion of the global population.

Spinal Muscular Atrophy (SMA) is one such rare but rather severe genetic disorder. And it can go unnoticed, as its symptoms can be wrongly attributed to more common issues. SMA is caused by defective copies of the SMN1 gene, and it impacts the nerve cells of the spinal cord.  Over time, it causes progressive muscle weakness in the limbs and trunk of the body. Of the various forms of SMA, type 1 is the most severe and typically affects infants within their first six months. Without timely intervention, the disease can be fatal!

Understanding the nature of this and recognising its early signs is important, because the lack of awareness surrounding SMA leads to delays in intervention, often until it’s too late to offer significant help.

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SMA Symptoms Can Be Subtle, Confusing 

A major challenge with SMA type 1 is that its early symptoms can be subtle and easily confused with other more common conditions. For example, if a baby shows signs of muscle weakness, such as being unable to sit up or maintain head control, parents and even healthcare providers may attribute it to slow development rather than a serious medical condition. Respiratory problems can be confused with minor respiratory infections.

Since SMA affects various aspects of a patient's life, including mobility, self-care, communication, and participation in social and educational activities, we need to raise awareness about the symptoms associated with them so that early intervention is made possible. Additionally, comprehensive management of the symptoms is required. The management of SMA necessitates employing a variety of strategies designed to address symptom control, slow down the advancement of the disease, and enhance the well-being of individuals afflicted by SMA.

A collaborative effort from diverse healthcare specialists is crucial for the comprehensive care and support of individuals with SMA. Paediatricians, Neurologists, nutritionists, physical therapists, orthopaedics, pulmonologists, etc. play essential roles. Additionally, emotional support is equally crucial, involving support groups, counselling from chronic illness-experienced professionals, and accurate information about SMA management for affected individuals and families.

Incorporating holistic treatment modalities, such as nutritional counselling, physiotherapy, respiratory support, and other forms of supportive care, is essential. By bringing together multiple specialists, we can create a comprehensive care ecosystem to address the multifaceted needs of individuals with SMA, and to ensure that patients and caregivers are able to live happy fulfilled lives.

Dr. Kaushik Mandal, Additional Professor Medical Genetics Department Sanjay Gandhi Post-Graduate Institute of Medical Sciences, Lucknow

[Disclaimer: The information provided in the article, including treatment suggestions shared by doctors, is intended for general informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified healthcare provider with any questions you may have regarding a medical condition.]