Lecture on Muscular Disorders: Dystonia and Spinal Muscular Atrophy

Introduction

• Muscles power every move, but for some, the muscular system is beyond control.
• Two case studies:
  • Jason Dunn: Muscles flex involuntarily.
  • Ami Anketz: Muscles have vanished due to a genetic disorder.

Jason Dunn and Dystonia

Overview

• Jason Dunn suffers from dystonia, causing up to 500 muscles to stay flexed.
• Dystonia results in involuntary muscle contractions, affecting posture and speech.
• Brain defects send faulty commands to muscles, causing them to contract unexpectedly.

Causes and Characteristics

• Dystonia often linked to genetic mutations (e.g., DYT1 gene mutation).
• Skeletal muscles are primarily affected, working in opposing pairs to facilitate movement.
• Normal muscle control is lost due to chaotic brain cell activity in the basal ganglia.

Treatment and Adaptation

• Limited understanding and treatment options available.
• Jason uses muscle relaxants to reduce involuntary contractions.
• Engages in weightlifting to tire out muscles and alleviate symptoms.

Deep Brain Stimulation (DBS)

• DBS involves implanting electrodes in the brain to stabilize nerve signals.
• The process of adjusting DBS settings is complex and ongoing.
• Shows limited improvement but offers hope for better control.

Ami Anketz and Spinal Muscular Atrophy (SMA)

Overview

• Ami Anketz has SMA Type 2, a genetic disorder causing muscle tissue loss from infancy.
• Affects nerves that control muscle movement, leading to muscle atrophy.

Symptoms and Challenges

• Muscles do not receive commands to move, leading to severe atrophy.
• Weighs only 39 lbs due to loss of muscle tissue.
• Speech and swallowing muscles are heavily affected.
• Respiratory muscles weakened, posing life-threatening risks.

Coping and Aspirations

• Ami lives independently with help and has a zest for life despite limitations.
• Uses a feeding tube for nutrition due to inability to swallow.
• Plans adventurous trips, sustaining his will to live and explore.

Scientific and Medical Insights

Dystonia

• Faulty brain signals are primary cause, particularly in the basal ganglia.
• DBS offers potential treatment, but results vary.

Spinal Muscular Atrophy

• Genetic mutation affects nerve cells that control skeletal muscles.
• Loss of nerve cell function leads to permanent muscle atrophy.
• No cure available, but ongoing research aims to find solutions.

Personal Stories and Resilience

• Both Jason and Ami demonstrate incredible resilience and determination.
• Live full lives despite severe physical limitations.
• Inspire medical research and hope for future breakthroughs in treatment.