muscular dysthrophies

Muscular dystrophies are primarily caused by:

• Excessive physical activity

• Viral infections

• Nutritional deficiencies

• Defects in many of the proteins important for normal muscle function

Some muscular dystrophies present with skeletal muscle-specific phenotypes, while others may include:

• Gastrointestinal issues

• Muscle weakness and cardiomyopathy or other organ involvement

• Respiratory infections

• Increased muscle strength and endurance

Dystrophinopathies are diseases of:

• Only smooth muscle

• only cardiac muscle

• Only skeletal muscle

• Both skeletal and cardiac muscle

Dystrophinopathies are characterized by which inheritance pattern?

• X-linked

• Mitochondrial inheritance
• Autosomal recessive

• Autosomal dominant

Mutations in which gene are associated with dystrophinopathies?

• Dystrophin (DMD) gene on Xp21.39

• Myostatin

• Actin

• Myosin

The incidence of Duchenne's muscular dystrophy (DMD) is:

• 1:10,000

• 1:35,000

• 1:1,000

• 1:3,500

Becker's muscular dystrophy (BMD) has an incidence of:

• 1:1,000

• 1:3,500

• 1:10,000

• 1:35,000

Which of the following statements best describes the spectrum of clinical presentations in dystrophinopathies?

• Includes only Duchenne's muscular dystrophy (DMD)

• Includes only Becker's muscular dystrophy (BMD)

• Includes both Duchenne's muscular dystrophy (DMD) and Becker's muscular dystrophy (BMD)

• Includes neither DMD nor BMD

The dystrophin protein is part of which complex?

• Myosin-actin complex

• Sarcoplasmic reticulum complex

• Dystrophin-glycoprotein complex (DGC)

• Troponin-tropomyosin complex

How many exons are in the dystrophin gene?

• 100

• 79
• 25

• 50