At Medcare Royal Speciality Hospital, we offer:

• Customised gene therapy treatment plans, based on clinical needs, including not only the drug infusion but full multidisciplinary assessment and support during the patient’s stay in Dubai.
• Pre-arrival support, answering all clinical and non-clinical queries.
• Dedicated communication, with a specific email address managed by the clinical and International Patient Services teams.
• Logistical assistance, including visa and flight support and help in securing accommodation.
• Patient coordinators, available to support with appointments and local arrangements.
• Interpreter services for non-English-speaking families.
• Complimentary airport, hospital, and hotel transfers.

Symptoms depend on the type. Infants may appear "floppy" and struggle to sit or roll over. Older children might fall often or have difficulty lifting objects. Spine weakness can lead to scoliosis. In severe cases, children may need help to eat and breathe due to muscle weakness.

• Type I (Werdnig-Hoffmann disease): Appears from birth to 6 months. Most severe form.
• Type II: Onsets between 7–18 months. Children can sit but not walk independently.
• Type III (Kugelberg-Welander): Appears after 18 months. Children can walk but often fall and have muscle weakness.
• Type IV: Adult-onset SMA, typically after age 35, progressing slowly.

Early intervention is crucial. Without timely treatment, children with Type 1 SMA face a high risk of death by age 2. New treatments have significantly improved life expectancy and quality of life, especially when started early.

Regardless of treatment status, quality supportive care is essential. This includes:

Respiratory Care

Weak breathing muscles impact overall health. Non-invasive or invasive ventilation (e.g., CPAP, BiPAP, or tracheostomy) may be needed. Regular follow-up with a paediatric pulmonologist and early interventions such as sleep studies can prevent complications.

What is Tracheostomy?

A tracheostomy is a surgical opening in the windpipe to assist breathing. It’s often required in children with severe respiratory issues. Though it may initially affect speech, proper training and support help families manage it at home. A specialised team provides education on tracheostomy care, suctioning, and emergency management.

Speech therapists can support children with communication despite a tracheostomy. Devices such as cough-assist machines and annual flu vaccines are vital to maintain respiratory health.

Feeding

Swallowing issues can lead to malnutrition or respiratory infections. A speech therapist assesses swallowing. A gastrostomy (G-tube) may be used for nutrition in severe cases. Children with tracheostomy often resume oral feeding after recovery.

Spinal Health

Weak back muscles can cause scoliosis, affecting lung function and mobility.

• Monitoring: Cobb’s angle measures scoliosis severity.
• Bracing: Recommended for scoliosis >20º.
• Surgery: Considered for scoliosis >50º or rapid progression. Magnetically controlled growing rods may be used in younger children, followed by spinal fusion at skeletal maturity (around age 12).

Hip Instability

Frequent in SMA. Monitored by orthopaedic surgeons. Surgery is considered in cases of pain.

Fracture Risk

Low bone density increases fracture risk. Vitamin D monitoring and bone density scans are important. Bisphosphonate therapy may be considered in recurrent cases.

Physiotherapy & Rehabilitation

Tailored physical and occupational therapy improves mobility and quality of life.

• Stretching and orthotic devices help preserve function.
• Hydrotherapy in warm pools can be especially beneficial.
• Standers, walkers, and mobility aids are incorporated as needed.

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): This was the first disease-modifying therapy for SMA that the FDA approved for both infants and adults. Given via spinal injection, it helps the body make more SMN protein to support nerve and muscle function. 
• Evrysdi™ (Risdiplam): An oral medication for patients 2 months and older that also boosts SMN protein levels.
• Zolgensma® (Onasemnogene abeparvovac-xioi): Developed by AveXis, a Novartis company, this is a one-time gene therapy that targets the root cause by replacing the faulty SMN1 gene.

These therapies offer renewed hope and improved quality of life for children and families affected by SMA.