Could Weak Muscles, Respiratory Problems In Newborns Indicate Spinal Muscular Atrophy?

Living with SMA type 1 means constant muscle weakness, breathing difficulties, swallowing problems, said a doctor.

SMA is often overlooked or misdiagnosed, and without timely intervention, patients struggle to manage their symptoms. (Representational image/Freepik)

There are many health issues and diseases that affect newborn babies. Some of them are unknown and rare, which is why parents need to be aware of the signs and symptoms and seek immediate medical help. Progressive muscle weakness in newborn children, for instance, can signify a potential manifestation of spinal muscular atrophy (SMA), which is a rare neuromuscular disorder. SMA patients -- especially those who have severe type 1 -- struggle with even the most basic motor functions like turning over. Unfortunately, due to a lack of awareness, SMA is often overlooked or misdiagnosed, and without timely intervention, patients struggle to manage their symptoms. In some cases, it may also lead to death.

SMA Type 1

According to Dr Mary Iype of the paediatric neurology department, Medical College Trivandrum, living with SMA type 1 means:

• Constant muscle weakness
• Breathing difficulties
• Swallowing problems
• Infants affected by SMA display reduced strength and coordination, which can become apparent in the early months of life.

"While new gene therapy advancements offer hope, their high cost and limited availability necessitate a holistic approach to patient care," she said.

SMA Management

The doctor added that SMA management requires a 'collaborative multidisciplinary approach' to enhance the quality of life for individuals. Palliative care is a 'crucial lifeline' beyond treating the disease to prioritise the quality of life for patients and their families, she said.

Palliative Care For SMA Patients

According to Dr Iype, palliative care goes beyond the realm of medication. It focuses on the physical and emotional needs of SMA patients:

1. Pain and symptom management: Pain can be a significant concern in SMA, and physicians work closely with patients to implement effective pain relief strategies. This involves a combination of medications and physiotherapy.
2. Respiratory support: Managing breathing difficulties is crucial for SMA patients. Physicians provide guidance on techniques like positioning, cough assist devices, and non-invasive ventilation, empowering patients to breathe easier and live fuller lives.
3. Nutritional support: Difficulty swallowing often leads to weight loss and nutritional deficiencies in SMA patients. Physicians assess nutritional needs and recommend specialised feeding tubes or dietary modifications to ensure proper nourishment and energy levels.
4. Psychological and emotional support: The emotional burden of living with a rare disease can be immense. Psychologists offer counselling and support to patients and their families, helping them cope with anxiety, grief, and the challenges of living with SMA.