With over 5 lakh cases of Duchenne muscular dystrophy (DMD) in the country, India is one of the countries with the highest population of people with this rare, incurable genetic disorder. Although research is going on in this field by doctors from India and Japan, a substantive solution has still not been found.
Muscular dystrophy is a group of genetic disorders characterised by progressive muscle weakness and degeneration. It is a heterogeneous group of hereditary degenerative disorders that affect the functioning of muscles in the body. The disorder is characterised by symmetrical or asymmetrical progressive muscle weakness that affects the capacity to move, walk, and carry out daily tasks. The muscles that support the operation of the heart and lungs can also be affected by this condition.
There are more than 30 variations of muscular dystrophy, among which DMD has the largest number of patients in the world. It is a rare and inherited condition caused by a mutation in the gene responsible for producing dystrophin, a protein crucial for maintaining muscle cell membranes. A severe form of this disorder primarily affects boys than girls, occurring approximately once in 50,000,000 live female births because the dystrophin gene is on the X chromosome, which is present only in one in boys and two in girls. So girls can almost always make working dystrophin using the dystrophin gene on their second X chromosome. The other types of muscular dystrophies are Becker muscular dystrophy (BMD), congenital muscular dystrophies (CMD), myotonic dystrophy, Emery-Dreifuss muscular dystrophy (EDMD), etc.
While DMD is the most common form of muscular dystrophy, BMD is the second most common type of muscular dystrophy, typically beginning in the teenage years. The severity of BMD varies from person to person. The most common type of muscular dystrophy that’s diagnosed in adulthood is myotonic dystrophy. EDMD mainly affects children and young adults, while FSHD most commonly affects muscles in the face, shoulders, and upper arms. Symptoms of FSHD tend to appear before age 20.
As an X-linked recessive condition, Duchenne muscular dystrophy (DMD) is inherited from mothers who bear the faulty gene on their X chromosome, but in rare cases it can also be inherited from fathers. Muscular dystrophy can be inherited in three ways: recessive, dominant, and sex-linked. Recessive inheritance involves a genetic mutation from both parents, while dominant inheritance requires a mutated gene from one parent. Sex-linked inheritance occurs when a genetic mutation on the X chromosome causes the condition, while sex-linked inheritance occurs when a gene is mutated in both male and female individuals. In rare cases, a de novo mutation can occur when a person develops muscular dystrophy spontaneously, indicating that the mutation occurred randomly and was not inherited.
Approximately two-thirds of DMD cases are thought to be inherited, and the other one-third are the result of spontaneous mutations. Due to the mutation’s impact on dystrophin production, muscle fibres become disorganised, degrade, and are replaced by connective tissue or fat. The signs of DMD appear early, typically before the age of 5, with muscle weakness being the primary symptom. The children affected by DMD may experience difficulty with motor skills such as walking, running, and climbing stairs, and even the most basic movements may become difficult for them. They may exhibit an awkward gait and a tendency to walk on their toes. As the disease progresses, muscle weakness spreads to other areas of the body, including the shoulders, neck, and respiratory muscles. This progressive muscle degeneration ultimately leads to a loss of mobility, with most affected individuals becoming wheelchair-bound by the age of 12.
Early diagnosis of DMD is crucial for implementing appropriate interventions and treatments. Genetic testing is the most reliable method for diagnosing the condition. It involves analysing a blood sample to identify a specific mutation in the dystrophin gene. Additionally, elevated levels of creatine kinase in the blood can serve as an indicator of muscle damage, further supporting the diagnosis. Also, electromyography (EMG) can be used to diagnose muscular dystrophy, in which a test measures the electrical activity of muscles and nerves in the body.
As rare as the condition is, so too are the available DMD treatments, which are few and expensive, costing up to Rs 2-3 crore per child annually, making them unaffordable for common Indian families. There are many instances where there are no family members, only a brother and sister, both of whom have muscular dystrophy. There are families where parents cannot work and do not have enough income to keep a caretaker for their children. So affording such treatments is out of their pockets. While there is currently no permanent, affordable cure for DMD, various treatment options and interventions aim to manage the symptoms and improve the quality of life. Physical therapy plays a vital role in maintaining muscle function and preventing contractures. Assistive devices, such as braces and mobility aids, can help with mobility and independence. Corrective surgeries, such as tendon lengthening, may also be recommended to improve function. Advanced stages of muscle degeneration require respiratory support, medications like corticosteroids and anticonvulsants, and gene therapy as a potential treatment, but further studies are needed to determine its long-term effectiveness. The life expectancy for individuals with DMD is typically around 26 years, although with advances in medical care, some individuals may live into their 30s or 40s.
According to Surajit Ghosh, Dean, Research and Development, IIT Jodhpur, there is currently no cure for DMD, but improvements in integrative treatment can slow down the disease progression and thereby extend the life expectancy of DMD patients. Patients with DMD have different forms of mutations at varying positions of the protein, resulting in the production of functionally compromised dystrophin, Ghosh said.
Various studies are going on in this field to learn more about this disorder and find an affordable solution. Recently, in partnership with the All India Institute of Medical Sciences (AIIMS) Jodhpur and the Dystrophy Annihilation Research Trust (DART), the Indian Institute of Technology (IIT), Jodhpur has developed a research centre for DMD which aims to establish research centres dedicated to finding innovative and cost-effective therapies for this rare and debilitating disease. There is an organisation in India which has been working for the last 30 years in this field, The Indian Association of Muscular Dystrophy. Integrated Muscular Dystrophy Rehabilitation Center is run by IAMD in Solan, Himachal Pradesh for transforming lives of Muscular Dystrophy and other neuromuscular disorder patients with its complete care and management. It provides best residential care, Physiotherapy, Hydrotherapy, Yoga, Pranayam, Meditation, Recreation and orientation, Genetic testing, Psychological counselling, etc. under one roof. The organisation also runs regular physiotherapy and counselling sessions at its Rahat centre which was established in April 2014. The centre is devoted to changing the lives of people with Muscular Dystrophy and their caregivers.
Affected people and their families may have severe emotional and financial effects as a result of living with Duchenne muscular dystrophy (DMD). Carers may have a significant burden due to the disease’s progressive nature and the requirement for specialised care and supplies. Families experience financial difficulties due to the expensive nature of treatments and medications as well as the probable requirement for long-term care. Despite the challenges posed by DMD, there is optimism surrounding ongoing research and advancements in treatment options. Researchers and medical professionals are actively working to develop more affordable and accessible treatments for individuals with the disorder.
This rare genetic illness known as Duchenne muscular dystrophy (DMD) has a major effect not only on the lives of those who are affected but also on their family members and close relatives. Despite the fact that there is no cure at the moment, improvements in medical care and ongoing research offer promise for better therapies and management techniques. If major players around the world could fund medical research, it would be a game-changing scenario. If governments can work together in the future for people with DMD or any other rare diseases or disorders, it will save many lives and also help people with mental illnesses, which are the side effects of these disorders. They can have full lives with improved quality of care and outcomes. Thus, raising awareness, encouraging early diagnosis, and supporting research initiatives are the way to go!
