Muscular Dystrophy

Question 1

What is muscular dystrophy?

Answer 1

Muscular dystrophy is a group of genetic disorders characterised by progressive muscle weakness and degeneration.

Question 2

What causes muscular dystrophy?

Answer 2

Mutations in genes responsible for producing proteins essential for healthy muscle function.

Question 3

What are the most common types of muscular dystrophy?

Answer 3

Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), and myotonic dystrophy.

Question 4

What is Duchenne muscular dystrophy (DMD)?

Answer 4

DMD is an X-linked recessive disorder caused by mutations in the dystrophin gene, leading to severe muscle weakness.

Question 5

What is Becker muscular dystrophy (BMD)?

Answer 5

BMD is a milder form of dystrophin-related muscular dystrophy with a later onset and slower progression compared to DMD.

Question 6

What is the function of dystrophin?

Answer 6

Dystrophin provides structural support to muscle fibres, linking the cytoskeleton to the extracellular matrix.

Question 7

What are the initial symptoms of Duchenne muscular dystrophy?

Answer 7

Delayed motor milestones, difficulty walking, frequent falls, and calf pseudohypertrophy.

Question 8

At what age do symptoms of Duchenne muscular dystrophy typically present?

Answer 8

Symptoms usually appear between 2 and 5 years of age.

Question 9

What is calf pseudohypertrophy in muscular dystrophy?

Answer 9

Enlargement of the calf muscles due to fat and connective tissue replacing muscle fibres.

Question 10

What is Gower’s sign?

Answer 10

A clinical sign where a child uses their hands to “climb up” their legs to stand, indicative of proximal muscle weakness.

Question 11

What are the complications of Duchenne muscular dystrophy?

Answer 11

Respiratory failure, cardiomyopathy, scoliosis, and joint contractures.

Question 12

How is muscular dystrophy inherited?

Answer 12

Most forms, including DMD and BMD, are inherited in an X-linked recessive pattern.

Question 13

What investigations are used to diagnose muscular dystrophy?

Answer 13

Serum creatine kinase (CK), genetic testing, muscle biopsy, and electromyography (EMG).

Question 14

What is the role of creatine kinase (CK) testing in muscular dystrophy?

Answer 14

Elevated CK levels indicate muscle damage and are a hallmark of muscular dystrophy.

Question 15

How is genetic testing used in muscular dystrophy?

Answer 15

It identifies mutations in specific genes, such as the dystrophin gene in DMD and BMD.

Question 16

What imaging techniques can support muscular dystrophy diagnosis?

Answer 16

MRI and ultrasound can assess muscle structure and detect fatty replacement of muscle tissue.

Question 17

What is the mainstay of treatment for muscular dystrophy?

Answer 17

Supportive care, including physiotherapy, corticosteroids, respiratory support, and management of complications.

Question 18

What is the role of corticosteroids in muscular dystrophy?

Answer 18

Corticosteroids (e.g., prednisolone) help slow disease progression and preserve muscle strength.

Question 19

What surgical interventions may be needed in muscular dystrophy?

Answer 19

Surgery to correct scoliosis, release joint contractures, or manage cardiac complications.

Question 20

What is the prognosis for Duchenne muscular dystrophy?

Answer 20

Life expectancy is reduced, with most patients living into their late teens or early twenties without advanced care.

Question 21

How does Becker muscular dystrophy differ in prognosis from Duchenne muscular dystrophy?

Answer 21

BMD has a slower progression and milder symptoms, with many patients living into middle or late adulthood.

Question 22

What are the respiratory complications of muscular dystrophy?

Answer 22

Weakness of respiratory muscles can lead to hypoventilation, chest infections, and respiratory failure.

Question 23

What cardiac issues are associated with muscular dystrophy?

Answer 23

Cardiomyopathy and arrhythmias are common, particularly in DMD and BMD.

Question 24

What are the goals of physiotherapy in muscular dystrophy management?

Answer 24

To maintain mobility, prevent contractures, and improve quality of life.

Question 25

What psychological support is essential for patients with muscular dystrophy?

Answer 25

Counseling and support groups can help manage the emotional impact of a chronic, progressive condition.