What is Muscular Dystrophy? Physiotherapy Petaling Jaya

Introduction

Muscular Dystrophy (MD) is a group of genetically inherited diseases that cause muscles to weaken and waste away over time, affecting approximately 1 in 5,000 people worldwide. While MD can start at any age, it is most often diagnosed in childhood. The root cause of MD is the lack or absence of essential proteins, known as glycoproteins, in the muscle cell membranes. These proteins are crucial for muscle health and function; without them, muscles progressively weaken and deteriorate.

Physiotherapy is very important for individuals with muscular dystrophy. Physiotherapy interventions help them perform their activities of daily living (ADLs) independently, increasing their self-efficacy and mental well-being. Therefore, individuals with this condition should seek out physiotherapy nearby, such as searching for “physiotherapy Petaling Jaya,” to start their rehabilitation and maintain functional mobility.

Type + Sign & symptoms

Muscular dystrophy can be inherited through different genetic patterns. Duchenne muscular dystrophy is the most common in children, while myotonic dystrophy is the most prevalent in adults.

Duchenne Muscular Dystrophy (DMD)

Duchenne Muscular Dystrophy (DMD) is the most common type of muscular dystrophy. It primarily affects children assigned male at birth (AMAB), but children assigned female at birth (AFAB) can also develop a milder form of the disease. As DMD progresses, it can impact the heart and lungs, leading to significant health challenges.

Initially, children with DMD may have trouble walking and frequently fall. Over time, the muscle weakness becomes severe enough that daily activities become difficult, and many individuals will eventually require the use of a wheelchair.

• Signs & Symptoms
  • Frequent falls
  • Difficulty rising from a lying or sitting position
  • Waddling gait (An exaggerated movement of the upper body creates a duck-like walk)
  • Large calf muscles
  • Walking on the toes
  • Developmental delay

Myotonic Dystrophy: 

Myotonic dystrophy (MD) is the most common type of muscular dystrophy diagnosed in adulthood, affecting adults assigned female at birth (AFAB) and adults assigned male at birth (AMAB) equally. Myotonic Dystrophy is inherited in an autosomal dominant fashion, meaning that only one copy of the altered gene is needed to cause the disorder.

People with MD experience difficulty relaxing their muscles after using them. This condition can also impact the heart and lungs, and it may cause endocrine issues such as thyroid disease and diabetes.

• Signs & Symptoms
  • Myotonia (Inability to relax muscles following contractions)
  • Slurred speech
  • Temporary jaw lock
  • Cataracts (Clouding in the lens of your eye)
  • Cardiac conduction defects (Problems with the electrical signals that control the heartbeat)
  • Facial and Neck Muscle Weakness (The facial and neck muscles are often the first to be affected, leading to long, thin faces, drooping eyelids, and swan-like neck)

Risk Factors / Causes

Muscular dystrophy (MD) is primarily caused by genetic changes. Here’s a clear overview of how these genetic factors contribute to the development of MD:

Humans have 23 pairs of chromosomes, with one chromosome in each pair inherited from each parent. Among these, one pair determines a person’s sex (X and Y chromosomes), while the remaining 22 pairs, called autosomal chromosomes, govern other traits.

Genetic changes occur when mutations in a gene lead to a shortage of dystrophin, a crucial protein for healthy muscle function. This deficiency may result in the body producing too little dystrophin, producing it incorrectly, or failing to produce it altogether.

Medical Management

Treatment for MD focuses on managing symptoms, slowing disease progression, and enhancing quality of life. While there is no cure, various approaches can help improve daily functioning and overall well-being.

Conservative Management:

• Medication:

• • • Antiarrhythmics & ACE Inhibitors: Used to manage heart complications.
    • Sodium Channel Blockers: Medications like phenytoin, procainamide, or mexiletine help manage irregular heartbeats.
    • Steroids (e.g., Prednisone): These can slow the progression of muscular dystrophy.

• Assistive Devices:

• • Wheelchairs: Proper seating to support mobility and comfort.
  • Ankle-Foot Orthoses (AFOs): Lightweight or molded devices to support foot and ankle function.
• Physiotherapy: Helps maintain muscle strength, improve mobility, and manage physical function.
• Genetic Counseling: Provides information on the genetic aspects of the condition.
• Supportive Counseling: Addresses emotional and psychological needs, helping patients stay active and engaged.

Surgical Options:

• Contracture Release: Surgery to relieve tight muscles or joints.
• Cardiac Devices: Implantation of defibrillators or pacemakers to manage heart problems.
• Spinal Correction Surgery: Performed to correct scoliosis, which can help maintain respiratory function and walking ability.

How does physiotherapy help you?

Physiotherapy is essential for managing muscular dystrophy. It helps maintain muscle strength, flexibility, and prevents joint stiffness. By slowing the progression of the disease, physiotherapy enhances daily function and improves quality of life.

Intervention

• Strengthening Exercise: Muscle training to improve muscle endurance and muscle strength (prevent disuse atrophy)
• Stretching Exercise: Stretching tight muscles to prevent contractures and ease muscle spasms. 
• Posture & position correction: Correcting and varying positions to increase comfort and prevent pressure sores.
• Cardiorespiratory endurance exercise: Exercise to increase stamina and reduce fatigue
• Balance exercise: Activities to improve balance and make it easier for you to respond to differing surfaces such as slopes, hills, kerbs, gravel, and grass.
• Advice on mechanical support such as wheelchairs, walking aids and orthotic devices in order to improve functional ability.
• Hydrotherapy and massage to provide relief and improve muscle relaxation.
• Breathing Exercise: Breathing control and assisted coughing if appropriate to maintain a clear chest.

FAQs

1. What is Muscular Dystrophy?

Muscular Dystrophy is a genetic disorder that weakens muscles over time, leading to a decline in physical abilities.

2. How does physiotherapy help with Muscular Dystrophy?

Physiotherapy helps maintain muscle strength, flexibility, and mobility, slowing the progression of muscle weakening.

3. Is there a cure for Muscular Dystrophy?

Currently, there is no cure, but treatments like physiotherapy and medications can help manage symptoms and improve quality of life.

4. Can physiotherapy prevent the need for surgery in MD?

While physiotherapy cannot prevent all surgeries, it can delay the need for surgical interventions by maintaining muscle function and joint flexibility.

5. When should someone with Muscular Dystrophy start physiotherapy?

Early intervention is key—starting physiotherapy as soon as a diagnosis is made can help preserve mobility and delay the progression of symptoms.

Conclusion

Understanding muscular dystrophy and its impact on daily life is the first step toward managing the condition effectively. At Synapse Physiotherapy, we are dedicated to providing personalized care that addresses your unique needs and enhances your quality of life. Our expert physiotherapists are committed to offering tailored treatment plans that not only focus on managing symptoms but also aim to improve mobility, strength, and overall well-being. If you or a loved one is facing the challenges of muscular dystrophy, don’t hesitate to reach out to us.