DMD is “incurable but not untreatable.” Young men with DMD face a difficult life, but they do not face a life without hope.
Every human being cherishes the opportunity of being independent & mobile. Who can understand this fact better than a physiotherapist, who encounters number of patients daily, who struggle to gain independence and mobility. Muscular dystrophy is one such devastating disease where this independence starts to disappear in small increments, rightly called a progressive & degenerative disease of the muscles. Affecting one in every 3500 to 6000 male births, historically, Duchenne boys have not lived beyond their mid-20s. Those that do are faced with progressively weaker muscles and pulmonary and cardiac failure. The potential now exists, however, to make a difference in their quality of life. It is often stated that Duchenne muscular dystrophy is "incurable but not untreatable". In other words, young men with DMD face a difficult life, but they do not face a life without hope. Researchers around the world are working on promising treatments to prolong life expectancy, improve quality of life, and even cure the disease.
Looking back over the past decades, the standard of care for DMD has advanced significantly in many areas of management including corticosteroid treatment, cell based therapies, ongoing research on genetic modification and replacement therapy, rehabilitative interventions, non-invasive ventilatory support, cardiac surveillance and prevention, surgical intervention & orthopedic management leading to marked improvements in the function, quality of life, health, and longevity of patients with DMD. With the realization that patients with DMD can now survive into adulthood, it is clear that standardization of care for patients with DMD in a multi-disciplinary approach and coordinated care that focuses on anticipatory and preventive measures as well as active interventions to address the primary and secondary aspects of the disorder is essential. This special issue of PHYSIOTIMES is an attempt to offer comprehensive management strategies in muscular dystrophy to empower you with the required knowledge and skills to help those who suffer from it live a useful and rewarding life. Right from rehabilitative interventions viz. physiotherapy, occupational therapy, speech therapy, psychological intervention, nutrition, yoga etc. to medical & surgical management to cell-based therapy, the issue discusses various strategies to alter the natural history of the disease and improve function & QoL in patients suffering from muscular dystrophy. The issue highlights the use of NRRT, a novel treatment approach through a case report of a 12 year old girl suffering from muscular dystrophy.
We thank Dr.Alok sharma, Director, NeuroGen Brain and spine institute, Mumbai and his entire team who have partnered this cause and helped us put together this special issue by contributing their expertise. We also thank Dr.V.C.Jacob and Dr.Nandini Gokulchandran, deputy directors at neurogen for their whole hearted support in providing valuable guidance. We wish to acknowledge the efforts of Dr.Khushboo Bhagwanani, Physiotherapist at NeuroGen, for coordinating with various authors & experts and helping us in every aspect to make this issue possible. Abraham Lincoln said. “ In the end, It’s not the years in your life that count. It’s the life in your years.” Although most of us want as many years of life as possible, improved therapies, treatment standards, and promising research are not only adding years to the lives of patients with DMD, they are improving the quality of those years.
May begin unconventionally with a case report though communication with patient-family. Communication is a challenge and requires equal if not more skill than our acquired professional skills with standard protocol.
The following incidence took place in a village in Karnataka while I had been there to decide about a Disability Detection and Advice Camp to expose BPT and MPT students. One of my colleagues Prof. Desai of Medical Electronics in our Department was a resident... Read More
Muscular dystrophies are a group of genetically determined disorders, in which there is progressive weakness of muscles that control movement. They commonly involve skeletal muscle, but heart muscle may be affected in some of them. They can affect children as well as adults. The commonest muscular dystrophy in children is Duchenne muscular dystrophy (DMD), followed by congenital muscular dystrophies. In adults the commonest muscular dystrophies are limb girdle muscular dystrophy (LGMD), myoto... Read More
Muscular dystrophy is a group of disorders that weakens the muscles and hampers mobility. It is characterized by progressive muscle weakness which is due to defects in the muscle protein, cell and tissue. The disease predominantly affects males, and rarely affects females. Most types of MD are multi-system disorder which may include the heart, gastrointestinal system, nervous system, endocrine glands and eyes.Read More
Purva Langde is a 13 year old girl from wardha who was diagnosed with muscular Dystrophy at the age of 5 Years. The road to recovery was full of obstacles and roadblocks, but purva has braved this debilitating disease with lot of courage and might. In conversation with her, we present the challenges she has faced due to her disability& her journey in coping with this devastating disease against all odds.Read More
My name is KhushbooGurnani and I am 24 years of age. I was diagnosed with this disease at age of 17 and with that received no information about the fast progression of the condition and the ill-effects of not following treatment. Since I knew very little of it, I did not take the disease seriously. I was a young college girl who did things that appealed to the heart. I happened to participate in an Art of living course at 17 that exposed me to some really cool notoriously wise people. I learn... Read More
Dr. V. C. Jacob (PT) has been a Physiotherapist at LTMG Hospital, Sion, Mumbai for 35 Years and is presently the head of Neuro-rehabilitation at Neurogen Brain and Spine Institute, Mumbai. For a period of 38 Years from 1968 to 2006, he was part of the Executive Committee of the Paraplegic Foundation, a Charitable Organization for the comprehensive care of the paraplegics. He is a Trustee of Nina Foundation which is an NGO set up for the rehabilitation of spinal cord injury persons. His main f... Read More
Authors: DR. V. C. JACOB, DR. JOJI GEORGE JOSEPH &DR.KHUSHBOO BHAGWANANI
Muscular dystrophy (MD) refers to a group of more than 30 genetic diseases that cause progressive weakness and degeneration of skeletal muscles used during voluntary movement. The word dystrophy is derived from the Greek dys, which means "difficult" or "faulty," and troph, or "nourish." These disorders vary in age of onset, severity of symptoms, rate of progres... Read More
AUTHORS - DR.HEMA BIJU, DR.JAYANTI YADAV&DR.JYOTI SUNDARAM
Muscular dystrophy is a disease that progressively weakens not just the patient, but affects the entire family too in their day to day living. Occupational therapists have a unique ongoing role in supporting and working with patients with muscular dystrophy as the patient’s needs are constantly changing. They need to assess and evaluate an individual’s physical, psychological and social needs... Read More
A 10-year-old boy with DMD has difficult in walking. He has bent knees (flexion deformity) and walks with equinus attitude. After few steps he ceases to walk independently and needs support with crutches to walk further.
A 16-year-old boy who is wheel-chair dependent has problems when transferring from chair to bed due to his inverted foot and ankle. He gets recurrent ankle pain because of the deformity.
Parents have noticed curvature in a spine of a 13 year old girl which... Read More
Introduction: Traditionally, muscular dystrophies are evaluated clinically with history and examination; electro-diagnostic testing (nerve conduction testing and electromyography); genetic testing; and muscle biopsy. Recently, there has been increasing interest in non-invasive imaging modalities, particularly muscle magnetic resonance imaging (MRI), for the diagnosis and assessment of disease progression for various neuromuscular diseases. In this article we shall... Read More