REVISION

MUSCULAR DYSTROPHY & RHEUMATOID ARTHRITIS

OVERVIEW OF CONDITIONS

Muscular Dystrophy

• A group of genetic diseases characterized by progressive weakness and degeneration of skeletal muscles that control movement.
• Key Symptoms:
  • Gradual loss of mobility.
  • Declining heart function requiring medications.
  • Dysphagia (difficulty swallowing) leading to chest infections and the potential need for a feeding tube.
  • Shortened life expectancy due to weakening of respiratory muscles or heart.
  • Associated mental health issues such as depression and anxiety.
• Common Type: Duchenne Muscular Dystrophy (DMD) that primarily affects young male children.

Rheumatoid Arthritis

• An autoimmune disease leading to chronic inflammation of the joints.
• Key Symptoms:
  • Chronic pain and limited mobility.
  • Inability to work due to pain and fatigue.
  • Economic stress.
  • Mental health issues like anxiety and depression.
  • Physical symptoms include high temperature, excessive sweating, poor appetite, and weight loss.
  • Additional risks: dry eyes, high blood pressure, increased risk of heart disease including pericarditis, and subacute inflammation of the lungs.

STARTER QUESTIONS

1. What is an NSAID?

   • A non-steroidal anti-inflammatory drug, examples include ibuprofen.

2. What are the side effects of NSAIDS?

   • Overuse can cause severe irritation to the stomach lining and may also affect heart health.

3. What is an autoimmune disease?

   • A disease in which the body’s immune system begins attacking its own tissues.

4. Describe a synovial joint.

   • Surrounded by a capsule and contains synovial fluid as a lubricant.
   • Ends of bones are cushioned with a layer of cartilage that acts as a shock absorber.

COMPARISON TABLE

IMPACT OF RHEUMATOID ARTHRITIS (RA)

• Chronic Pain: Leads to limited mobility and contributes to mental fatigue.
• Inability to Work: Results in economic stress and overall emotional wellbeing.
• Physical Health Issues:
  • High body temperature and excessive sweating.
  • Poor appetite leading to potential weight loss.
  • Risk of dry eyes and high blood pressure.
  • Increased risk of heart disease and pericarditis.
  • Potential for inflammatory lung disease including fluid buildup in the lungs.

TREATMENTS FOR RHEUMATOID ARTHRITIS (to ease symptoms)

1. NSAIDs and/or Paracetamol: For pain relief.
2. DMARDS (Disease-modifying anti-rheumatic drugs): e.g., Methotrexate.
3. Corticosteroids: Immune suppressors to reduce inflammation.
4. Biological treatments: Monoclonal antibodies used when DMARDS are ineffective.
5. Surgery: To alleviate severe damage or pain in affected joints.

DETAILS ON BIOLOGICAL TREATMENTS

• Monoclonal Antibodies: Certain antibodies manufactured from cell cultures, prescribed when other medications fail.
• Examples: Infliximab and adalimumab.
• Mechanism of Action: Bind to TNF (Tumor Necrosis Factor) in the blood, inhibiting the inflammatory responses affecting joints.
• Administration: Typically given by injection.

IMPACTS OF MUSCULAR DYSTROPHY

• Physical Limitations: Loss of mobility and independence.
• Heart Health: Possible decline in heart function, may necessitate Beta blockers.
• Swallowing Difficulties: Known as Dysphagia which may result in serious chest infections requiring feeding tubes.
• Life Expectancy: Reduced due to muscular and respiratory function deterioration.
• Mental Health: Individuals may experience depression and anxiety due to their condition.

TREATMENTS FOR MUSCULAR DYSTROPHY

• Steroids for Duchenne MD: Corticosteroids can enhance muscle strength and function for 6 months to 2 years, slowing muscle degeneration.
  • Formulation: Available in either tablet or liquid form.
  • Dosage: Current research indicates that daily dosing is most effective.
  • Side Effects: Long-term use can cause significant side effects, including weight gain and excessive hair growth.
• Physiotherapy: Aimed at maintaining muscle strength, preserving joint flexibility, and preventing stiffness.
• Exercise: Low-impact activities like swimming can help improve or retain mobility and muscle strength.

PLENARY QUESTIONS

1. Cause of Muscular Dystrophy: A mutation in the gene for Dystrophin.
2. Most Common Type: Duchenne Muscular Dystrophy; predominantly affects young male children.
3. Symptoms and Progression: Begins with weakness in specific muscle groups, which gradually spreads leading to significant physical limitations, including the inability to breathe.
4. Remission and Exacerbations:
   • Remission: Periods when symptoms of RA subside.
   • Exacerbations: Periods when symptoms worsen, causing significant pain and swelling in the joints.