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Effects of Posture and Quality of Life in Duchenne Muscular Dystrophy Children
Duchenne muscular dystrophy (DMD) is a progressive, disabling genetic neuromuscular disorder in children caused by an absence of dystrophin protein, that helps maintain muscle integrity. It is inherited in an X-linked recessive manner. Duchenne muscular dystrophy (DMD) was first identified by the French neurologist Guillaume Benjamin Amand Duchenne in the 1860s. However in 1987, the protein linked to this gene was discovered and named dystrophin.The estimated incidence in children is 1 in 3,800. The absence of dystrophin in muscle cells makes them vulnerable and prone to damage. The initial symptoms include trouble climbing stairs, a waddling gait, and frequent falls, which typically appear in patients around the ages of 2 to 3. Muscle weakness is the primary symptom of Duchenne muscular dystrophy (DMD). Initially, the weakness affects the proximal muscles, followed by the distal limb muscles, leading to wheelchair dependency and severe complications in their late teens. Typically, the lower extremity muscles are impacted before the upper extremity muscles, children may struggle with activities such as jumping, running, and walking. Later on the heart and respiratory muscles are also affected, resulting in impaired cardiac and pulmonary function. Another type related to DMD is Becker muscular dystrophy (BMD), which is a milder form of the disease caused by deletions in the dystrophin gene. This results in comparatively mild muscle weakness, allowing individuals to maintain mobility throughout their lives, although it can also lead to severe muscle dysfunction similar to that seen in Duchenne muscular dystrophy (DMD). As the disease progresses, maintaining upper extremity function becomes crucial for preserving the ability to independently perform daily activities, such as self-care, using a computer, and operating manual or powered wheelchairs. Therefore, clinical assessments of disease-modifying treatments should prioritize the preservation of pulmonary, cardiac, and upper limb function to enhance quality of life.
Commonly used outcomes to evaluate Duchenne muscular dystrophy (DMD) include the Gowers’ maneuver, the time taken to get up from the floor, the 6-Minute Walk Test, increased tendency to fall compared to peers, and speech difficulties, all of which reflect the progression of the disease. In children with Duchenne muscular dystrophy (DMD), a multidisciplinary approach is employed to provide supportive therapies, such as treadmill walking, which helps enhance adaptive mechanisms necessary for coordination, body orientation, balance control, and maintaining an upright position. Additionally, cycling is considered an aerobic exercise that improves repetitive functional activities.
In patients with Duchenne muscular dystrophy (DMD), the upper limb maintain their strength and function longer than any other muscle group, unlike the respiratory system. Notably, the distal muscles of the upper limb tend to preserve their function for an extended period, even in the later stages of the disease to improve quality of life. Low-intensity aerobic exercises aimed at enhancing activity levels in children with Duchenne muscular dystrophy (DMD), such as assisted bicycle training, provide valuable practices that promote effective management and boost confidence, ultimately leading to an improved quality of life.The quality of life and life expectancy of patients with Duchenne muscular dystrophy (DMD) have improved due to advancements in technology and multidisciplinary care. Proposed treatments have effectively slowed disease progression, delaying both functional dependence and cardio respiratory impairments.
Finding optimal treatment for Duchenne muscular dystrophy has become challenging due to the complexity of the condition. The treatment options for Duchenne muscular dystrophy vary based on the child’s symptoms and age, with the goal of improving quality of life and postural control. While there are various tools available to assess upper limb function, postural control, and quality of life, these assessments are particularly important at stages when patients experience a loss of postural control and a decline in quality of life. The Alexander technique is used to enhance quality of life and postural tone, while also helping to modify body schema.This approach emphasizes the mind-body interaction, consciously inhibiting inefficient movements to enable the body to generate stronger and more comfortable movements, that allows the head and shoulder to balance forward and upward, thereby improving postural control of the upper limbs. Given that postural control and improved quality of life are benefits of the Alexander technique, it is based on the AID method. Here, A stands for awareness of muscle tone and poor postural habits, I represents the conscious inhibition of ineffective movements, and D refers to direction.
The Alexander technique is recognized as an effective treatment for upper limb postural control and quality of life; however, its specific effects on Duchenne muscular dystrophy (DMD) remain no known. So there should a study on effect of the Alexander technique on upper limb postural control and quality of life in children with DMD. Therefore the aim of this to determine the effects of the Alexander technique on upper limb posture control and quality of life in children with Duchenne muscular dystrophy
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A Gene Transfer Therapy Study to Evaluate the Safety of and Expression From Delandistrogene Moxeparvovec (SRP-9001) in Participants With Duchenne Muscular Dystrophy (DMD)
Actively Recruiting
2+ Years
Restoring or Replacing Dystrophin
Actively Recruiting
Therapeutic Approach:Restoring or Replacing Dystrophin
Variant Requirement:Duchenne - variant criteria varies by cohort
A Study to Investigate the Safety and Biodistribution of a Single Intrathecal (IT) Injection of INS1201 in Ambulatory Males With Duchenne Muscular Dystrophy (DMD)
Actively Recruiting
2 Years to <5 Years
Restoring or Replacing Dystrophin
Actively Recruiting
Therapeutic Approach:Restoring or Replacing Dystrophin
Variant Requirement:Duchenne - variants in exons 18 to 58
A Gene Transfer Therapy Study to Evaluate the Safety and Efficacy of Delandistrogene Moxeparvovec (SRP-9001) in Non-Ambulatory and Ambulatory Participants With Duchenne Muscular Dystrophy (DMD)
Active, Not Recruiting
8 Years to 18+ Years
Restoring or Replacing Dystrophin
Active, Not Recruiting
Therapeutic Approach:Restoring or Replacing Dystrophin
Variant Requirement:Duchenne - Excluding any deletion of exon 8 and/or 9
Safety, Tolerability, Pharmacodynamic, Efficacy, and Pharmacokinetic Study of DYNE-251 in Participants With Duchenne Muscular Dystrophy Amenable to Exon 51 Skipping
Active, Not Recruiting
4 Years to <17 Years
Restoring or Replacing Dystrophin
Active, Not Recruiting
Therapeutic Approach:Restoring or Replacing Dystrophin
Variant Requirement:Duchenne - amenable to exon 51 skipping