Muscular Dystrophy

Question 1

What is the most prevalent form of muscular dystrophy in adults?

Answer 1

Myotonic Muscular Dystrophy

Question 2

What type of muscular dystrophy occurs when there is an intronic mutation consistent of an unstable expansion of CTG (DMPK gene)?

Answer 2

DM 1

Question 3

What type of muscular dystrophy is caused by a DNA expansion of CCTG repeat?

Answer 3

DM 2

Question 4

What type of muscular dystrophy are you more likely to see evidence of myotonia on EMG?

Answer 4

DM1, not consistent with DM2

Question 5

What lab test are you going to order when suspecting muscular dystrophy?

Answer 5

Serum CK to rule out other cause

CK will be normal to mildly elevated

Question 6

What tests are you going to order to diagnose and type muscular dystrophy?

Answer 6

Serum CK
Muscle Biopsy
EMG
ECG (heart block in DM1)

Question 7

What do you need for a definitive diagnosis for muscular dystrophy?

Answer 7

Genetic testing

Question 8

What medication can be prescribed to treat arrhythmia in muscular dystrophy?

Answer 8

Mexiletine

Question 9

What muscle groups are seen in DM2?

Answer 9

Mainly proximal muscles

Question 10

What muscle groups are seen in DM1?

Answer 10

Distal muscles

Question 11

What is the most common and severe form of childhood muscular dystrophy?

Answer 11

Duchenne Muscular Dystrophy

Question 12

What type of genetic condition is Duchenne Muscular Dystrophy?

Answer 12

X-linked recessive caused by mutations in the dystrophin gene, affects males exclusively

Question 13

What are common manifestations of Duchenne Muscular Dystrophy?

Answer 13

Symmetric, progressive proximal muscle weakness (shoulder and hip girdles more common)

Question 14

What is Gowers sign?

Answer 14

Calf muscle pseudohypertrophy in which child will get up from sitting and climb their legs with their hands

Question 15

What is the life expectancy of a child with Duchenne’s?

Answer 15

15-18 years of age

Question 16

What are you going to see on a diagnostic EKG for Duchenne’s?

Answer 16

Cardiomyopathy and deep Q waves across the pericardium

Question 17

What are the complications of Duchenne’s?

Answer 17

Respiratory failure
Respiratory infections
Aspiration pneumonia
Acute gastric dilation
CHF
Cardiac arrhythmia

Question 18

What is important in the treatment of Duchenne’s?

Answer 18

Do not limit mobility, patients should not have prolonged bracing and do routine passive muscle stretching but also should not do heavy weight lifting