New Delhi, Aug 30 Training ASHA workers to identify red flags in babies with Spinal Muscular Atrophy can be a major boost in the fight against the rare disease in India, said health experts on Saturday.
SMA is a rare genetic disorder that affects the motor capabilities of the person affected.
In SMA, intellectual capacities remain normal, but motor capacities are affected.
Speaking to IANS, Dr. Rahul UR, State Nodal Officer - Child Health and Rare Diseases, National Health Mission, Kerala, said that understanding the disease process is crucial.
“SMA is a genetic disorder that presents in early childhood and is often mistaken for a simple developmental delay, unlike adult motor issues that might lead to needing a wheelchair,” Rahul said.
SMA is categorised into four types -- numbered as type 0, 1, 2, 3, and 4.
Type 0 are those babies who don't survive the labour process due to a lack of muscle function, resulting in death. In Types 1 to 4, the recruitment of the motor units is affected, resulting in a neuromuscular disorder.
The expert cited that a key problem is that many parents are unaware of the major developmental milestones a child should achieve by a certain age.
Therefore, building awareness starts with understanding the normal stages of a child's development. This education can easily be integrated into existing national health programmes.
“Missing key milestones, such as attaining neck control or learning to stand by the appropriate age, are critical indicators that require further evaluation,” Rahul said.
For example, a child with Type 1 SMA will never achieve neck control without treatment. Unfortunately, some families might believe their child will simply catch up later.
"This causes them to wait, delaying both evaluation and diagnosis. For a child with Type 1 SMA, such a delay can be fatal within the first year of life," Rahul told IANS.
To avoid this, “community health professionals, like ASHA workers, can be trained to identify red flags. This must be complemented by a push for early screening and newborn testing programmes to catch these conditions systematically,” the expert said.
Importantly, the expert cited the lack of standard guidelines or protocols for the management of SMA as well as the lack of a national registry to understand the number of SMA patients. There is also a lack of sustainable funding, which can help improve diagnostics and treatments for the disease.
“As per literature, the estimated number of SMA cases in India is around 1 in 7,500. However, we do not have an exact registry or records of this condition. This issue is not limited to the case of Spinal Muscular Atrophy but most rare diseases in India,” the doctor said.
“Today, the SMA ecosystem in India faces critical gaps -- delayed diagnosis and initiation of treatment due to limited awareness and inadequate access to genetic testing facilities, limited number of Centres of Excellence with trained specialists and multidisciplinary teams to provide holistic care and lack of sustainable funding to access treatment,” Professor Sheffali Gulati, neurologist at the Department of Paediatrics, AIIMS, New Delhi, told IANS.
The continued delay in building robust data systems threatens public health significantly because the healthcare workers cannot plan for sustainable, population-level support without it.
Gulati noted that although innovative therapies are now available and have shown proven outcomes in preserving motor function and improving quality of life, access remains a major challenge.
“To truly change the trajectory for patients, India urgently needs a sustainable funding mechanism that ensures equitable access to these life-changing therapies,” she added.
To bridge these gaps, the experts urged governments, NGOs, patient bodies, the medical fraternity, and the industry to come together with a shared commitment.
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