Muscular Dystrophy

WHAT IS MUSCULAR DYSTROPHY (MD)

Muscular Dystrophy refers to a progressive neuromuscular genetic disorder where the muscles gradually lose their strength leading to complete immobility and dependence on others for everyday activities. Muscular Dystrophy can occur at any age. Sometimes it affects more than one sibling in a family. Mainly there are 9 types, each influencing different muscle groups, with signs and symptoms appearing at different ages, and varying in severity. There may be various different genetic types within each kind of muscular dystrophy, and people with the same kind of muscular dystrophy may encounter different symptoms There's no cure for muscular dystrophy. But medications and therapy can help manage symptoms and slow the course of the disease extend the time a person with the disease can remain mobile. In India, more than 4000 children are born with Muscular Dystrophy each year. Indian Association of Muscular Dystrophy is working for rehabilitation and awareness generation of Muscular Dystrophy in the country.

TYPES OF MUSCULAR DYSTROPHIES:

  • Duchenne muscular dystrophy
  • Becker muscular dystrophy
  • Congenital muscular dystrophy
  • Emery Dreifuss muscular dystrophy
  • Facioscapulohumeral muscular dystrophy
  • Limb-Girdle muscular dystrophy
  • Myotonic muscular dystrophy
  • Occulopharyngeal muscular dystrophy

SYMPTOMS

Symptoms vary with different types of muscular dystrophies that include:

  • Muscle weakness that slowly gets worse
  • Bulged out calf muscles
  • Drooping Shoulders
  • Scoliosis of Spine
  • Frequent falls
  • Wadding Gait
  • Loss in muscle size
  • Loss of strength in a muscle or group of muscles as an adult

LIVING WITH MUSCULAR DYSTROPHY – IMPLICATIONS AND MANIFESTATIONS

  • Delayed onset of the disease causes huge mental trauma to the patient and the family -who try to “find a cure” – at any cost.
  • Leading a life of despondence, isolation and fear not knowing what is happening and why?
  • 100% dependence on others, for basic day to day living and survival.
  • Muscular dystrophy shortens the natural life-span.
  • A normal person cannot imagine the state of disability and pain of the sufferer.
  • It is progressive, which makes it more severe than other disabilities.

PHYSIOTHERAPY IS THE ONLY KNOW CURE FOR MUSCULAR DYSTROPHY :

Integrated Muscular Dystrophy Rehabilitation Center offers state of the art therapy with special gadgets. Hydrotherapy has been outlined by doctors as excellent treatment. It is believed that it improves and maintains mobility, strength and flexibility of muscles and is a good form of aerobic exercise. IMDRC has an indoor heated pool and Steam facility for all its patients.

ROLE OF PHYSIOTHERAPY IN MUSCULAR DYSTROPHY

Muscular dystrophy is a disorder of the musculoskeletal system that is characterised by progressive weakening of various muscle groups. This disorder has many genetic presentations giving rise to its different types and forms. In the present times, this disorder is amongst the most challenging hurdles that human science has ever come across. Physiotherapy is a therapeutic science that makes use of manual skills and thermal modalities to correct the deviations from normal health process. Muscular dystrophy is a life disabling condition, that makes a person dependent upon a wheelchair in later stages of the disease, demands maintenance of the bodily functions and reconditioning of affected tissues. This can be primarily brought about by physiotherapy which has no side effects. An early referral from the hospital for physiotherapy is imperative to prevent unnecessary degradation of the patients’ functioning. This disorder is disabling but consistent efforts on part of the patient and his/her physiotherapist, which is generally ignored. Your Support can make this world a better place to live for the patients having Muscular Dystrophy.

THE COURSE OF THE DISEASE, RISK FACTORS AND SYMPTOMS

Muscular dystrophy has a gradual onset and a progressive course. With medications and Physiotherapy, the course of the disease can be modified and delayed but not stopped. The presence of an ancestral history of Muscular dystrophy makes the progenies of that pedigree more susceptible to get affected. Environmental variations of the sorts that might cause genetic mutations in the foetus are a risk factor too. Males are prone to be affected by most forms of Muscular dystrophy. Besides the specific symptoms of each type, in general, there is a muscular weakness of various muscle groups in the patient. A few sites like the hips and the calves seem to develop greater muscle bulk when actually that is purely fatty tissue deposition. This is called pseudohypertrophy. Clinically, when a child with Duchene’s Muscular dystrophy is asked to stand up from a crouched-on-floor position, he uses his hands in a manner as if trying to climb over oneself in an attempt to stand erect. (GOWER’S SIGN ) Defects of vision and difficulty in swallowing are a key representation of the oculopharyngeal type of Muscular dystrophy. Involvement of face muscles is primarily seen in the facioscapulohumeral type of Muscular dystrophy. Sensory changes are rarely seen.involvement of the heart and respiratory muscles are the cause of fatality in few of the types of Muscular dystrophy.

THE LIFESTYLE OF A PATIENT WITH MUSCULAR DYSTROPHY

A patient with muscular dystrophy faces many challenges in life. Besides the physical limitations that render the patient dependent upon his/her family members for the basic functional requirements, there are many psycho-social aspects to this disorder as well. Gradually intricate and in the long run even the gross motor functions are lost. The patient becomes dependent upon others for most of the activities of daily living. It is in such situations that a feeling of invalidity develops in the minds and hearts of these patients. Depending on age groups different psychosocial behaviour is seen amongst the patients. The lack of play amongst toddlers, lack of companionship in young adults and family insecurity in all of them are the key features of their psychosocial status. For the many challenges they face, the patients deserve support not sympathy, we need to empathize and re-integrate them in the normal social functioning for their well-being.

ROLE OF MODALITY IN MUSCULAR DYSTROPHY

The main goal of physiotherapy in patients with Muscular dystrophy is to maintain the available function in their limbs and attain maximum possible improvement in the associated disabilities. This would help the patient attain a socially functional status so that he/she can function in the surroundings, of their own accord, bringing about a sense of independence in the patients. The therapeutic practices involved and their importance in the life of an Muscular dystrophy patient are as follows:

ELECTROTHERAPY: A patient with Muscular dystrophy often complains of musculoskeletal pains at various sites. Electrotherapeutic modalities like paraffin wax bath over the fractured limb, TENS, IFT, Ultrasonic therapy for tender points and Contrast Bath can be done to relieve such pains. Passive movement: Passive movements are a technique that involves movement of limbs by the physiotherapist, in all ranges, in a manner so as to maintain joint and muscle integrity. Long term immobilization in patients due to the weakness of the muscles can render the muscle fibrotic and the joint may become stiff. To avoid the development of these comorbidities one needs to maintain the integrity of structures by passive movements.

ACTIVE ASSISTED MOVEMENTS: The Muscular dystrophy patient has limited muscle power. Therefore, with maximum effort, they can attain only a limited range by active contraction of their muscle. To maintain this power, the maximum amount of activity up to the fatigue threshold should be encouraged in these patients. While the patient maintains muscle force, the physiotherapist should assist the completion of this movement in the normal biomechanical pattern. This will maintain the joint proprioception i.e. the sense of joint position in space.

STRETCHING MANOEUVRES: Often again due to immobility and poor power of muscles, the muscles shorten in length. The joints adapt a gravity-assisted position and internal muscular forces cannot work against the external gravitational force. As a result of this joint contractures develop. To open up these joints and retain the normal muscle length, stretching is done on the joints. A sustained long duration stretch with crepe bandages or taping can be given initially and this can be toned down a bit in later stages to short-duration stretches with greater repetitions given manually.

JOINT MOBILIZATION: Due to the imbalance of muscular forces, the joints often get displaced from their normal anatomical position. To guide them back so that proper weight bearing can be done on the joints without causing any harm to the associated structures, the physiotherapist passively mobilizes the bones of each joint to bring them in place.

BALANCE AND GAIT TRAINING: Muscular imbalances are so profound in Muscular dystrophy that sitting and standing balance are greatly affected in the patients. So with gradual progression from kneeling to quadruped to high sitting to standing position, balance training should be given. As the balance improves the patient will be able to function better by himself/herself. With gradual degradation of power in lower extremities, the locomotion or gait is affected. So gait training involving proper training in parallel bars progressing from supported to unsupported walking should be done under the supervision of the physiotherapist.

HYDROTHERAPY: Hydrotherapy or aquatic exercises are an innate part of physiotherapy rehabilitation protocol for Muscular dystrophy. Activities are performed in water at a warmer temperature than the body. This helps in the following manner: The buoyancy of water protects and braces the weak joints. In the water, a person can feel very little of his/her own weight so this makes activities of partial weight-bearing possible. Adding floatation devices can assist the movements while adding high-pressure water jet can help in performing mild resistance training in better muscle groups. Warmer water helps in maintaining good thermo-stasis in the body and keeps the active muscle warm and hence at ease. Cardiac Pacing and Breathing Exercises: As the muscles of the heart and respiratory system weaken, greater chest and cardiac congestion are seen in the patients with Muscular dystrophy. To avoid the deleterious effects of an insufficient cardiopulmonary system, one needs to keep in mind a few points.

CHEST PHYSIOTHERAPY:The clear airway should be maintained by passive chest manipulations given by the physiotherapist. The patient should be taught huffing and coughing to aid him in spitting out the chest secretions. Deep breathing exercises should be taught to condition the general cardiorespiratory performance and endurance. Each therapy session lasts for as much as 45 to 60 minutes.

COUNSELING: Besides the therapy sessions, it is the duty of the physiotherapist to counsel the patient about what his/her condition is and how he/she may expect to change in the course of the disease. The parents/guardians/caretaker should be enlightened about the progressive and degrading condition of the disease and the fatality of the condition if applicable. They should be explained the necessity of the physiotherapy regime that needs to be followed back at home as well after one or two sessions under the physiotherapist’s supervision.

GENETIC COUNSELLING: A prime part of counseling involves Genetic Counselling. As Muscular dystrophy is an inheritable disorder, patients with Muscular dystrophy who are in their youth or adulthood should be explained the risks involved in having their biological progeny. This can increase the risk of developing a similar problem in the child as well. Only by chance can the presence of this condition skip a few generations but the innate problem of the affected gene remains. Thus if not now, the condition can easily present in one or the other following generations. To avoid this, even if one generation is of adopted children, the risk of affections in the future progenies is greatly reduced. The physiotherapist’s duty also includes the prescription of orthoses and wheelchairs in conjunction with other rehabilitation professionals.

ROLE OF A REHABILITATION TEAM

OCCUPATIONAL THERAPIST: An occupational therapist has a very vast role to play. The OT is responsible for training the affected individual in a manner that he/she can attain a good level of independence in the Activities of Daily Living. Besides this, modified workplace and home designs as per the patients’ ergonomic requirements and designing of assistive devices like long-handled spoons, scooting chairs etc. are done by the OT.

NUTRITIONIST/DIETICIAN: Muscular dystrophy patients need to take a balanced diet in a manner that they do not put on weight due to lack of physical activity and that they get adequate proteins to make up for the deficiency of the same in their diet. A nutritionist is responsible for setting up diet plans for the patients. Speech Therapist: In muscular dystrophies like Occulopharyngeal and Facio-scapular-humeral dystrophy, speech articulation can be affected. Thus under the supervision of a trained speech therapist, the patient can be taught to recruit accessory muscles for speech articulation.

PROSTHESIS AND ORTHOTICS ENGINEER: These rehabilitation professionals are specialized in designing necessary orthoses for the patients according to their specific measurements and requirements. They also give basic lessons upon the usage of those orthoses.

Conclusion Muscular Dystrophy is a physically limiting condition that can be a source of frustration to the patients. However, with constant counselling and Physiotherapy, most of the functions can be retained and maintained. As the whole physiotherapy helps, but while treating the children with Duchenne’s Muscular dystrophy one can at most try and maintain the available range of motion and bodily functions. Progression of Duchenne’s Muscular dystrophy cannot be delayed any better than any other form of Muscular dystrophy. We can only try and provide a better quality of life. Besides all, one’s own will to lead a happier life is the key to successful therapy.

Conclusion Muscular Dystrophy is a physically limiting condition that can be a source of frustration to the patients. However, with constant counselling and Physiotherapy, most of the functions can be retained and maintained. As the whole physiotherapy helps, but while treating the children with Duchenne’s Muscular dystrophy one can at most try and maintain the available range of motion and bodily functions. Progression of Duchenne’s Muscular dystrophy cannot be delayed any better than any other form of Muscular dystrophy. We can only try and provide a better quality of life. Besides all, one’s own will to lead a happier life is the key to successful therapy.