Continuing our 28 Days, 28 Rare Diseases campaign by KIMSHealth, Trivandrum, Kerala, India, today we focus on Spinal Muscular Atrophy (SMA)—a genetic neuromuscular disorder that leads to progressive muscle weakness and loss of movement.
Under the expert guidance of Dr. Roshan Daniel (MBBS, MD, DM Medical Genetics), one of the leading medical geneticists in India, our center has supported numerous families in understanding, diagnosing, and managing SMA and other inherited neuromuscular disorders.
What is Spinal Muscular Atrophy (SMA)?
Spinal Muscular Atrophy (SMA) is a genetic disorder that affects nerve cells in the spinal cord, leading to muscle weakness, paralysis, and loss of mobility. It is caused by mutations in the SMN1 gene, which is responsible for producing Survival Motor Neuron (SMN) protein—essential for muscle function.
Without SMN protein, motor neurons gradually deteriorate, leading to:
✔ Weak muscle tone and floppy limbs (especially in infancy)
✔ Delayed or lost motor milestones (sitting, standing, or walking)
✔ Breathing and swallowing difficulties
✔ Recurrent lung infections and pneumonia
✔ Loss of independent movement over time
Despite the physical challenges, intellect is usually preserved, meaning children with SMA can learn, talk, and engage with their surroundings—they just struggle to move.
Since SMA is progressive, early diagnosis and medical intervention are crucial for improving mobility and survival.
Our Experience with Spinal Muscular Atrophy at Our Center
Families often seek help when they notice:
🔹 Decreased baby movements during pregnancy – A frequent concern among mothers in our experience
🔹 Floppy or weak limbs in a newborn
🔹 Delayed milestones—babies struggling to sit or stand
🔹 Recurrent pneumonias and breathing difficulties
🔹 Children who initially seem normal but later develop muscle weakness
Over the years, we have managed varied cases:
✔ Some babies never achieve motor milestones and unfortunately, do not survive beyond early infancy
✔ Others develop symptoms later and may initially sit but gradually lose mobility
✔ Many require ventilator support due to weak breathing muscles, and some struggle to be weaned off the ventilator
At KIMSHealth, we specialize in:
✅ Genetic testing to confirm SMA diagnosis
✅ Genetic counselling for recurrence risk and future pregnancy planning
✅ Medical management, including respiratory and nutritional support
✅ Guidance on advanced therapies like gene therapy and SMN-modifying drugs
Since SMA is caused by a missing or mutated SMN1 gene, genetic testing is the only way to confirm the diagnosis. The recommended test costs around ₹5,000 – ₹8,000 and results typically take two to three weeks.
Advances in SMA Treatment & Management
The landscape of SMA treatment has transformed in recent years. Previously, the condition was thought to be untreatable, but today, several groundbreaking therapies exist:
🔹 Gene Therapy (Zolgensma) – A one-time treatment that delivers a functional copy of the SMN1 gene, significantly improving survival and motor function (most effective when given early).
🔹 SMN-Modifying Drugs (Spinraza, Risdiplam) – These therapies increase SMN protein levels, slowing disease progression and improving mobility.
🔹 Physical Therapy & Assistive Devices – Helps maintain muscle function, prevent contractures, and support daily activities.
🔹 Ventilator & Breathing Support – Since many SMA patients experience breathing difficulties, ventilator support is often needed, but we have seen that some children struggle to be weaned off it.
New treatment options are emerging, offering hope for longer and healthier lives for children with SMA.
Frequently Asked Questions (FAQs) on Spinal Muscular Atrophy
💡 What causes Spinal Muscular Atrophy?
SMA is caused by mutations in the SMN1 gene, which leads to a deficiency of SMN protein. Without this protein, motor neurons gradually die, leading to muscle weakness and paralysis.
💡 Is Spinal Muscular Atrophy inherited?
Yes. SMA follows an autosomal recessive inheritance pattern, meaning both parents must be carriers for a child to inherit the condition. If both parents are carriers, each child has a 25% chance of having SMA.
💡 Can Spinal Muscular Atrophy be diagnosed before birth?
Yes. If there is a family history of SMA, genetic testing can be done:
✔ Carrier screening for both parents before conception
✔ Prenatal genetic testing (CVS or amniocentesis) during pregnancy
✔ Preimplantation Genetic Diagnosis (PGD) for IVF
At our center, we have guided many families in preventing SMA in future pregnancies using prenatal testing and IVF-based genetic selection.
💡 Can a child with SMA learn and speak normally?
Yes. Unlike many neurological disorders, SMA does not affect intelligence. Children with SMA can learn, speak, and engage with the world—they simply struggle with movement due to weak muscles.
💡 Why do SMA patients frequently suffer from pneumonia?
In our experience, many children with SMA develop recurrent lung infections due to weak respiratory muscles. This can lead to:
✔ Frequent pneumonias
✔ Need for ventilator support
✔ Difficulty in weaning off ventilators
Respiratory care and early intervention are key to reducing complications and improving survival.
💡 Is there a cure for SMA?
Currently, there is no complete cure, but gene therapy and SMN-enhancing drugs have transformed SMA care, allowing children to live longer and achieve milestones previously thought impossible.
💡 Can SMA occur again in a future pregnancy?
Yes, once a child is affected, there is a 25% chance of SMA occurring again in future pregnancies.
However, we have multiple ways to prevent it:
✔ Invasive prenatal testing (CVS or amniocentesis) to check the baby’s SMN1 gene
✔ IVF with Preimplantation Genetic Diagnosis (PGD) to select unaffected embryos
We have helped several families successfully prevent genetic conditions like SMA in future pregnancies using these advanced techniques.
Genetic Testing and Counselling for Spinal Muscular Atrophy
At KIMSHealth, Trivandrum, under the leadership of Dr. Roshan Daniel, we provide comprehensive genetic care for families affected by Spinal Muscular Atrophy. Our services include:
✔ Genetic testing for SMA and related neuromuscular disorders
✔ Carrier screening for families planning pregnancy
✔ Prenatal genetic testing & counselling
✔ Personalized medical management for SMA patients
✔ Online genetic consultations for remote patients
If you have concerns about muscle weakness, recurrent pneumonias, or a family history of SMA, early genetic testing and expert consultation can make all the difference.
Join Us in Spreading Awareness!
Spinal Muscular Atrophy is no longer a hopeless diagnosis—early screening, modern treatments, and genetic counselling can help families navigate this condition with confidence.
📢 No disease is too rare to care. Join us in spreading awareness and helping families access life-changing treatments for SMA.
For expert guidance on genetic testing, counselling, or SMA management, reach out to our center today! 💙