Advanced Spinal Muscular Atrophy (SMA) Treatment



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Spinal Muscular Atrophy (SMA)

Spinal Muscular Atrophy (SMA) is a rare, genetic, & progressive disease that affects nerves & muscles, causing muscles to become increasingly weak. This may affect crawling, walking ability, breathing, swallowing, & the movements of the arm, hand, head & neck. There are different forms of SMA & a wide spectrum of how severely children, young people & adults are affected. The most common form of SMA is broadly known as ‘5q SMA’. This condition can affect infants & children but the milder forms can also affect adults. There are four main types of SMA: 1, 2, 3 & 4 based on the age that symptoms begin & highest physical milestone achieved.

At Medcare, we offer a holistic approach towards the children diagnosed with SMA. The care is customised based on the clinical needs of a child & our care is in accordance with the International SMA standard of care guidelines. Medcare is one of the few hospitals in the world that manages & even delivers gene therapy in the SMA children with complex care needs, such as those with invasive ventilation via tracheostomy.

A: At Medcare, we provide:

  • A customised & competitive treatment cost for our gene package based on the patient's clinical needs. This includes not only the infusion of the drug, but also an assessment of the child by all the members of our multidisciplinary team & the necessary interventions as per their clinical needs during their stay in Dubai.
  • Patients support in answering queries regarding clinical & non-clinical queries, even before their arrival to Dubai. 
  • A specific email support address coordinated by the treating team as well as the International Healthcare Service team. 
  • Support in the visa process & air tickets as well as guidance on choosing an accommodation in Dubai.
  • A dedicated patient coordinator is available to support the patients with all their appointments, as well as accompanying them for the same or any other local issues. 
  • Translator services is available if the parents are non-English speakers.
  • Free pick-up & drop-off from & to airport, hospital & hotel, provided by Medcare.

A: The signs depend on the type of SMA. Some babies are “floppy” at birth or soon after birth and don't know how to roll or sit at the expected age. An older child might fall more often while walking or have difficulty lifting things. As the back muscles are weak, children get bending of the spine called scoliosis. If SMA is severe, a child may need help to eat & breathe as these functions require respective muscles to work in a normal way.

Types of Spinal Muscular Atrophy (SMA)

  • Type I: Also called infantile-onset SMA or Werdnig-Hoffmann disease, begins to affect infants from birth up to 6 months of age. Most babies show signs of the disease by 3 months. This is the most severe form of SMA. 
  • Type II: Begins to affect children between 7 & 18 months old. Children can sit independently, but cannot walk.  
  • Type III: Kugelberg-Welander syndrome or Juvenile SMA, affects children between 18 months to adolescence. Children can walk independently but have weakness in their arms & legs. This causes them to fall often. This is the mildest form of SMA in children. 
  • Type IV: It is the adult form of SMA. Symptoms usually begin after the age of 35 & slowly get worse over time. Because it develops slowly, many people with Type IV SMA don't know that they have it, until symptoms start to show & this can happen after years. 

A: In Spinal Muscular Atrophy (SMA), time is essential. As time passes without treatment, a child with SMA becomes weaker & weaker. In the absence of early treatment, almost two-third of the Type 1 SMA children die before the age of 2 & over 80% die before the age of 4. 

The availability of new treatments for SMA has changed the natural history of this disease. Early diagnosis & treatment of SMA can limit disease progression in children & adults, extending life expectancy & improving quality of life (QOL). 

A: Whether or not someone is receiving the drug treatment for Spinal Muscular Atrophy, getting good supportive care such as symptom management, prevention of complications, nutrition & bone health and mental wellness are important to achieving the best possible quality of life.


When the respiratory muscles weaken, air doesn’t move into & out of the lungs very well, with subsequent adverse effects on general health. In recent years, the availability of portable, effective ventilation devices has created more options for newborns with SMA, & in some cases has a greatly extended life. Assisted ventilation (either invasive or non-invasive) also can help children & adults with different forms of SMA.

It is hence important that all the affected children should see a paediatric pulmonologist or chest physician on a regular basis to assess their lung functions. Early interventions can prevent any further complications. A detailed sleep study is advised soon after the diagnosis of Spinal Muscular Atrophy. If the lung functions are compromised, the pulmonologist can advise alternate mode of ventilation (like CPAP or BiPAP). Those who cannot tolerate this through mask will often need tracheostomy. 

What is Tracheostomy?

A tracheostomy is a small, surgical opening through the skin into the windpipe (trachea). A curved plastic tube (tracheostomy tube) is inserted into the windpipe through a cut in the throat under general anaesthesia. The child will breathe through this tube instead of their nose & mouth. The tube doesn't go into the lungs.

There are many reasons why children may need a tracheostomy. The most common is to relieve severe breathing difficulties due to an obstruction (blockage) or narrowing in the upper airway. Other reasons include a child needing to be connected to a machine (ventilator) that helps with their breathing, or they need to have frequent suctioning of mucus from their airway if they can't swallow their saliva properly. 

The paediatric pulmonologist performs regular evaluations to determine when it is time to safely remove the tracheostomy tube. In some cases a child may need a long-term or permanent tracheostomy if he or she has chronic or worsening medical, pulmonary or neurologic conditions. Long-term care will be required from your family & your surgeon to help maintain a healthy tracheostomy. Although these things may seem scary at first, the more practice you have, the more confident you will feel. Many parents get trained to change the tracheostomy at home. If not, a specialised nurse or the paediatric pulmonologist or a paediatric ENT specialist can do this in the hospital.

Extra care & supervision are required for a child with a tracheostomy. A specialised team will help you learn the different procedures you will need to do when caring for your child after they leave hospital. This may include suctioning, planned replacement, emergency replacement & flushing.

The tracheostomy tube usually affects speech to some degree, & at first your child may not be able to produce any vocal sounds (speeking or crying). Even if the children with tracheostomy are not able to speak, it is important to spend time talking to them & allow them time to respond. Speech pathologists are often helpful in such situation.

Other necessary aspects of respiratory care in SMA include clearance of respiratory secretions, which can also be achieved with a mechanical device, & prevention of infection. Cough-assist is one type of device that can assist with clearing respiratory secretions from the airway.  To prevent respiratory infections, almost everyone with SMA should get a flu vaccine every year. 


Swallowing problems occur when the muscles of the mouth & throat are weak. Sucking weakness can lead to dehydration & poor nutrition while swallowing weakness can lead to obstruction of the airway & respiratory infections from inhaled food or liquids (aspiration). A thorough assessment of swallow function can be performed by a specialised speech therapist.

Babies with severe swallowing & sucking weakness can be fed by alternative methods, such as a feeding tube, often called a gastrostomy tube or g-tube. In most cases, a child with a tracheostomy can eat & drink without any trouble once they have recovered from the operation. A speech pathologist may assess your child's ability to swallow before your child is given any food or drink.


Weakness of the back muscles that support the flexible and growing spine, is a major problem in childhood. If it’s not corrected, the child may develop scoliosis — a side-to-side curvature of the spine. This can affect the function of the lungs.

Scoliosis in SMA is directly linked to the severity of the type of SMA. Individuals with SMA Type 1 or Type 2 are more likely to be affected by scoliosis than about 50% of the ones with SMA type 3. It causes problem in various ways:

  • The shape of the back affects how easy it is for the lungs to expand & allow full deep breathing; a case of severe scoliosis means that the lungs have less room to do their job.
  • Scoliosis also reduces mobility, & therefore encourages stiffening of the joints coming from the spine. This includes the hip joints, which may be held at an angle (also called subluxation).
  • It can worsen the gastric reflux causing additional lung problems

Regular spine x-ray can tell us how bad the scoliosis is. A measurement called Cobb’s angle is a useful tool. A spine surgeon should monitor this in the affected children. For children with SMA type 1 & 2, scoliosis with Cobb’s angle >20º should be monitored every 6 months. Such growing children with the scoliosis >20º need spinal orthoses (braces). A back brace or corset that supports a child in a certain position, is often prescribed to try to direct the spine as it’s growing. Braces don’t solve the problem, but they may slow the progression of a curve. 

The decision to surgically treat the scoliosis is usually taken if the scoliosis is >50º & the rate or progression is more than 10º per year. Scoliosis affecting the lung functions or causing adverse effect on the functional mobility of the child has to be treated in such way. The decision is taken by a spine surgeon based multiple factors, especially if the child’s respiratory status is good enough to withstand the surgery. The surgery is usually indicated in children over 4 years. In a growing child, if surgery is required, surgeons will insert magnetically controlled growing rods, which avoids the need for a repeated surgery. Once the child attain skeletal maturity by the age of 12 years, a definitive surgery of fusion of spine is performed.


Hip instability is very common in children with SMA. Such children need careful monitoring by orthopaedic surgeon & surgery is needed in children with significant pain.


Due to disuse, low levels of vitamin D & osteoporosis, the children are prone to fractures even with mild trauma or forces. Vitamin D level should be monitored on a regular basis & corrected accordingly. The children should also have a special scan periodically which measures the bone density. In case of a frequent fractures, a special infusion of drug called bisphosphonate can be considered. 


Physical therapy & occupational therapy programs can help children & adults learn the best ways to maximize their muscle function & accomplish activities of daily living. Stretching is often helpful which should be guided by a trained physiotherapist. Need for upper & lower limbs orthoses or splints should be consider to promote their range of motion & function. 

Exercising in a warm pool (85 to 90 degrees Fahrenheit) may be particularly beneficial. Standers, walkers, various kinds of powered and manual wheeled vehicles, and braces (orthoses) can help with standing and moving around. Custom and moulded wheelchair seating system as prescribed an occupational therapist as well as custom sleeping systems should be considered in all the children. 

The physiotherapy and occupation therapy teams can also guide on the function, assistive technology and adaptive equipments. Chest physiotherapy is an important aspect of physiotherapy as these children often cannot cough out or clear the lung secretions effectively. 

A: Since 2016, we have had access to various disease-modifying drugs that have revolutionised the treatment by altering the natural course of the disease.

  • Spinraza (Nusinersen) was the first disease-modifying therapy for SMA that the FDA approved in December 2016 to treat SMA in both infants and adults. The treatment also boosts the ability of the SMN2 gene to produce more functional SMN protein.  
  •  Evrysdi (Risdiplam) is the first oral treatment for all types of SMA in patients 2 months and older. The U.S. Food and Drug Administration (FDA) approved it in August 2020. 
  • Zolgensma (Onasemnogene abeparvovac-xioi), a gene therapy developed by AveXis, a Novartis company, uses a genetically engineered virus to deliver a healthy copy of the SMN1 gene to the body to increase the levels of functional SMN protein. It is hence like treating the root cause. The FDA approved Zolgensma in 2019 to treat all types of SMA. It is the first-ever FDA-approved gene-replacement therapy for any neuromuscular disease. This therapy is a one-time intravenous infusion that aims to halt the disease by producing sufficient levels of SMN protein. Zolgensma is designed to halt disease progression by producing sufficient and sustained levels of SMN protein required to improve motor neuron function in a manner that has a rapid onset of effect.  

Medical Expert in Spinal Muscular Atrophy (SMA) Treatment

Vivek Mundada











Dr. Vivek Mundada is a British Board-certified ​consultant paediatric neurologist ​trained in India and the UK. After completing his MBBS and DCH in India, he went to the UK for further subspeciality training. Upon completion of the subspeciality training in Paediatric Neurodisability and Neurology, he received CCT in this area. 

The Royal College of Paediatrics and Child Health, UK has awarded him the MRCPCH and DCH degrees as well as the prestigious fellowship (FRCPCH).  He has worked in several hospitals in the UK, including Royal London Hospital, Great Ormond Street Hospital, Addenbrookes Hospital, and Norfolk and Norwich University Hospital.


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