Muscular Dystrophy: Symptoms & Causes - Mayo Clinic

Overview

• Muscular Dystrophy: A group of diseases causing progressive muscle weakness and loss of muscle mass due to genetic mutations affecting muscle proteins.
• Commonality: Different types exist, with some forms appearing in childhood (mostly boys) and others in adulthood.
• Management: No cure available but symptoms can be managed through medications and therapy.

Symptoms

• General Sign: Progressive muscle weakness.
• Duchenne Muscular Dystrophy: Most common type, mainly affects boys.
  • Symptoms in early childhood:
    • Frequent falls
    • Difficulty rising from sitting or lying position
    • Trouble running and jumping
    • Waddling gait
    • Walking on toes
    • Large calves
    • Muscle pain and stiffness
    • Learning disabilities
    • Delayed growth
• Becker Muscular Dystrophy: Similar to Duchenne but milder and slower progression.
  • Symptoms usually begin in teens or later.
• Other Types:
  • Myotonic: Difficulty relaxing muscles post-contraction. Affects facial and neck muscles first.
  • Facioscapulohumeral (FSHD): Weakness in face, hips, shoulders. Shoulder blades may stick out.
  • Congenital: Present at birth or early childhood. Varies in progression and severity.
  • Limb-girdle: Affects hip and shoulder muscles first, leading to frequent tripping.

When to See a Doctor

• Seek medical advice if noticing signs of muscle weakness such as increased clumsiness and frequent falls.

Causes

• Genetic mutations affect genes responsible for muscle fiber protection.
• Each type of dystrophy correlates with specific genetic mutations, often inherited.

Risk Factors

• Affects both sexes, all ages, and races.
• Duchenne is more common in young boys.
• Family history increases risk of development or transmission to children.

Complications

• Mobility Issues: Trouble walking, using arms, can lead to wheelchair need.
• Contractures: Shortening of muscles/tendons around joints.
• Breathing Problems: May require ventilator support.
• Scoliosis: Curvature of the spine due to muscle weakness.
• Heart Problems: Heart muscle efficiency reduced.
• Swallowing Problems: Can lead to nutritional issues and aspiration pneumonia.

Research and Clinical Trials

• Mayo Clinic is involved in ongoing research and offers clinical trials for muscular dystrophy.

Additional Information

• Associated Procedures:
  • Electromyography (EMG)
  • Genetic testing
  • Ultrasound
• Resources:
  • Mayo Clinic Family Health Book
  • Mayo Clinic Health Letter

Contact and Further Steps

• Request an Appointment: Available through Mayo Clinic.
• Newsletter Subscription: Updates on research and health tips available.

Note: For personalized advice and diagnosis, consulting a medical professional is recommended.