How Physiotherapy is helpful in Duchenne muscular dystrophy?
1 year ago 320What exactly is Duchenne muscular dystrophy (DMD)?
Duchenne muscular dystrophy (DMD) is a genetic illness characterised by progressive muscle degeneration and weakening caused by mutations in a protein called dystrophin, which aids in the maintenance of muscle cells. DMD is one of four dystrophinopathies (conditions characterised by a lack of dystrophin). Becker Muscular Dystrophy (BMD, a mild form of DMD); an intermediate clinical presentation between DMD and BMD; and DMD-associated dilated cardiomyopathy (heart disease) with little or no clinical skeletal, or voluntary, muscle illness are the other three disorders in this category. DMD symptoms commonly appear in early childhood, between the ages of 2 and 3. The condition typically affects boys, however it can also affect girls in rare situations.
What are the signs and symptoms of DMD?
The majority of the muscular weakening is in the 'proximal' muscles, which are those closest to the trunk of the body, around the hips and shoulders. Weakness usually begins proximally in the lower extremities and progresses distally. Weakness in the upper extremities usually manifests later. This implies that tiny motions, such as those made with the hands and fingers, are less impacted than larger ones, such as walking.
Symptoms often appear between the ages of 1-3 years and may include:
• Difficulties with walking, running, leaping, and stair climbing. Walking with a 'waddling' gait may appear unusual. The boy may be slow to learn to walk (although many children without DMD also walk late).
• Because of the looseness of the muscles surrounding the shoulder, it may feel as though the child'slips through your hands' when you lift him up.
• Toe-walking, Children in this gait pattern walk on their toes with their feet apart to assist maintain balance, with a greater curvature in the lower back.
• Frequently occurring falls
• Although the calf muscles are not strong, they may appear bulky. • As the youngster grows older, he may use his hands to assist him get up, giving the impression that he is 'climbing up his legs.' This is known as 'Gower's symbol.'
• Some boys with DMD also struggle with learning. Normally, this is not a serious problem.
• Developmental delay is sometimes the first indicator of DMD. Speech development in the youngster may also be delayed. As a result, a youngster whose growth is delayed may be offered a DMD screening test. However, DMD is simply one of many potential reasons of developmental delay; there are other additional factors that are unrelated to DMD.
• Contractures are a common occurrence in DMD. It occurs when typically flexible tissues, such as muscle fibres, are replaced with rigid, non-stretchy tissue. They are often regarded as a primary source of impairment. They obstruct normal movement and are most common in children with DMD's legs, particularly the calf and muscles around the hip.
• Progressive heart hypertrophy
What factors contribute to DMD?
DMD was initially reported in the 1860s by the French neurologist Guillaume Benjamin Amand Duchenne, but nothing was understood about the aetiology of any type of muscular dystrophy until the 1980s. In 1986, MDA-funded researchers discovered a specific gene on the X chromosome that, when faulty (mutated), causes DMD. The protein linked with this gene was discovered and termed dystrophin in 1987. Muscle cells that lack the dystrophin protein are frail and readily injured. DMD is an X-linked recessive inheritance pattern and is inherited from the mother, who is known as a carrier.
Because of the way the illness is inherited, boys are more likely to be affected. The sons of carriers of the illness (women with a faulty gene but no symptoms themselves) have a 50% risk of developing the condition. Each of the daughters has a 50% probability of being carriers. Females are only very seldom afflicted by the condition. Duchenne muscular dystrophy affects around 1 in every 3600 male babies. A family history of Duchenne muscular dystrophy is one of the concerns since this is a hereditary illness.
What exactly are DMD "carriers"?
Females with DMD have a normal dystrophin gene on one X chromosome and a defective dystrophin gene on the other. The majority of DMD carriers do not exhibit symptoms of the illness, although a small percentage do. Symptoms can range from minor skeletal muscular weakness to severe weakness or cardiac involvement, and they can appear in childhood or maturity.
What is the current state of DMD research?
Gene therapy, exon skipping, stop codon read-through, and gene repair are just a few of the fascinating options being pursued by MDA-supported researchers in DMD. Some of these techniques are undergoing human clinical trials. For an overview of DMD research efforts as well as the most recent research news.
Physiotherapy Management
Physiotherapy is critical in the treatment of Duchenne's disease. Monitoring the physical signs of the disease is critical, and physiotherapy can help keep the youngster active for as long as feasible. Physiotherapists will work with parents and caregivers to provide knowledge and manual skills that will benefit the kid.
Contractures are one of the most common side effects addressed by a physiotherapist. They will do this through a stretching exercise that may be given to the parents as well.
Physiotherapists will also be in charge of counselling parents on orthoses such as AFOs and sending them to a paediatric orthotist if necessary. They will also assist families in determining the mobility aids and equipment the youngster may require.
The physiotherapist will be involved in keeping the youngster active in the early stages of the ailment. During the later phases of the disease, the physiotherapist will also assist with respiratory difficulties.
Physiotherapists will observe the child's posture while he or she is sitting, lying, or standing. They can advise parents on how to assist their children sit, stand, and lay in proper postures by utilising cushions or splints. To assist preserve the child's posture over time, a sleep system and night splints may be prescribed at night.
The NorthStar Ambulatory Assessment is widely used by physiotherapists to objectively track the child's progress. It is a tool made exclusively for children with DMD that requires the kid to complete up to 17 actions, including standing, head-raising, hopping, and running. It was launched in 2003. This examination is only used for youngsters who can still walk. It is standardised, with each kid receiving the identical instructions and their aptitude being graded on a scale of 0 to 2. It is simple to administer and takes around 10 minutes to complete. These are helpful when talking with other medical professionals and informing them on the child's physical condition.
DMD sufferers will struggle with numerous daily tasks due to muscular loss induced by dystrophin deficiency. Physiotherapists can assist in the treatment of neuromusculoskeletal issues. They can aid in the slowing of range of motion, muscular strength, everyday function, and act to enhance gait pattern and posture/alignment. Physiotherapy can also help with any discomfort that the patient is feeling. As the patient's ability to walk and stand deteriorates, the physiotherapist may decide to start a standing programme.
