Access to funding and affordable treatments remain the main challenge in Duchenne muscle dystrophy care in India

Duchenne Muscle Dystrophy (DMD), identified as a rare disease by the World Health Organization (WHO), is the most common form of muscle dystrophy in childhood. This is a progressive genetic disease that mainly affects boys, leading to muscle degeneration and loss of motor function. In addition to physical symptoms, DMD is associated with brain-related comorbidities, including intellectual disability and attention deficit disorder, affecting a large number of affected individuals.

Mutations in the DMD gene encoding dystrophin destroy muscle function and can also affect brain development and function. Despite the need for more research, these comorbidities highlight a significant unmet need for diagnosis, treatment and support for patients and families, According to a published study exist nature.

The challenge of DMD care and the urgency of early diagnosis

Despite ongoing research and increasing awareness, children affected by DMD in India are still facing significant challenges in terms of timely diagnosis, affordable treatment and consistent government support.

According to Chandu P., a neurologist and epilepsy doctor of Kochi, early signs of DMD include walking, walking, stiffness, frequent falls, requiring a “walk” of legs lifting their legs from the leg or squat position due to difficulties in using the hip muscles – known positions. Symptoms usually start before an age, but diagnosis is often delayed due to lack of awareness and extensive screening. Simple blood tests of elevated creatine phosphorylase (CPK) and then genetic testing can confirm the condition, but such protocols are not always implemented nationwide.

Dr. Chandu stressed the urgency of early diagnosis, emphasizing that muscle loss in DMD is irreversible. Without proper intervention, most children lose the ability to walk between the ages of eight and twelve, and in their teens, many face life-threatening complications.

Treatment is still inaccessible

Current treatment focuses on slowing disease progression using steroids, physical therapy and respiratory support. However, emerging gene therapies such as exon skip and gene therapy are still out of reach for most Indian families. “These treatments are imported, with costs ranging from Rs 5 crore to Rs 26 crore per patient. There is no production yet in India,” said Arun Shastry, chief scientific officer of the Bangalore-based MDG Extinction Research Trust (DART), a parent-driven research program.

DART began in 2012 and represents a model of how patient families lead the gap in research in India. There is no clear policy to begin now, and clinical trials have been conducted for the treatment developed in India. “We had no choice. There were no institutional efforts to create treatments for DMD, so parents stepped in to start research themselves. We did receive some support from Indian research agencies like Indian Council for Medical Research (ICMR) , Department of Science and Technology’s Science and Engineering Research Board (DST-SERB), and Department of Biotechnology’s Biotechnology Industry Research Assistance Council (DBT-BIRAC), which helped us reach the clinical trials stage, along with the support In the DMD families that contribute to this cause, we need government and industry support to manufacture and distribute it,” said Dr. Arun.

Need better data, funding and multidisciplinary therapy

India also lacks comprehensive data on this situation. Although DMD affects about one-third of men born globally, the prevalence in India is unclear due to underreport. ICMR initiated a comprehensive biobank and genomic (IBG) registry, but participation remains incomplete, with approximately 75% of institutions contributing. This gap hinders policy planning, clinical research and resource allocation.

In addition, National Rare Disease Policy (NPRD) 2021, developed Provided by the Ministry of Health and Family Welfare (MOHFW), financial assistance of up to Rs 5 million per patient at designated Centres of Excellence (COE) (COES). Although the policy is intended to support patients with rare diseases including DMD, the Rs 5 million limit may not be sufficient to meet the broad and lifelong treatment needs of DMD patients.

In response, Dr. Chandu highlighted the need for a separate national DMD program to address these challenges and focused on early screening, awareness among general physicians, funding and structured family support. “We need dedicated government support not only in policy but also in practice,” he said. Currently, many families are struggling economically, emotionally and logically to care for affected children. The high cost of imported treatments, the lack of alternatives made in India and delayed or missed diagnosis exacerbates the burden.

“My main concern for patients with DMD is that they need multidisciplinary care, involving pediatric neurologists, physical therapists, respiratory doctors and metabolic skeleton specialists,” said Tarishi Nemani, consultant for Narayana Health in Bangalore – pediatric neurology. “However, accessing these services is difficult and costly in one place,” she said. Dr Tarishi also called for the speed at which Indian research can be translated into accessible therapies, as well as insurance and public health care systems covering rare diseases such as DMD.

Despite new hopes for scientific advances, experts stress that children with DMD in India will continue to lag without timely access to affordable treatment and ongoing funding.