MD

Question 1

What are muscular dystrophies?

Answer 1

Inherited, genetic, disorder causing progressive muscle weakness & atrophy

Question 2

If a disorder is X-linked what does that mean?

Answer 2

Mutation in one of the mother’s X chromosomes; may not be passed to offspring, may be passed to daughter who is an asymptomatic carrier, may be passed to a son who will develop the disease

Question 3

If a disorder is autosomal dominant what does that mean?

Answer 3

You only need to get the abnormal gene from one parent who has it

Question 4

If a baby boy presents with weakness that starts in the trunk and spreads to the legs first and on labs you see elevated CK, what does he have?

Answer 4

Duchenne Muscular Dystrophy

Question 5

What is the pathogenesis of Duchenne Muscular Dystrophy?

Answer 5

X-linked defective gene causing dystrophin deficiency thus leading to muscle breakdown

Question 6

Is there any treatment for Duchenne MD?

Answer 6

corticosteroids, but prognosis is wheelchair by 12 and survival into late teens/20’s

Question 7

What if the boy is older presenting with central weakness that then spreads to the legs, with only low dystrophin levels?

Answer 7

Then it is known as Becker Muscular Dystrophy

Question 8

For Becker disease or Duchenne what are some of the complications and reasons why lifespan is shorter?

Answer 8

cardiomyopathy, respiratory infections, fractures, cognitive impairment

Becker = live to 40’s       
Duchenne = Live to teens/20’s

Question 9

For Becker or Duchenne how do you make the diagnosis?

Answer 9

Exam, CK, AST, ALT, genetic testing, EMG, and muscle biopsy

Question 10

Besides corticosteroids for Becker or Duchenne, what other treatment can you offer?

Answer 10

Ca/Vit D (for fractures); ACE & Beta Blockers (for Cardiomyopathy); Defibrillator (cardiomyopathy); Pulm support

Question 11

If a young patient presents with contractures at the elbows, ankle plantar flexion, and spine, what diagnosis?

Answer 11

Emery-Dreifuss MD

Question 12

How do you diagnosis Emery-Dreifuss MD and what are some of the complications?

Answer 12

EMG & genetic testing.
Complications = arrhythmias and cardiomyopathies

Most still ambulate 20 years after diagnosis

Question 13

If a patient finds that he goes to shake a person’s hand and cannot relax or let it go, what is this?

Answer 13

Myotonic Dystrophy

Question 14

What type of MD is the most common?

Answer 14

Myotonic Dystrophy

Question 15

If a patient develops MD as an adult or child with baldness, fatigue, and cataracts along with muscle stiffness?

Answer 15

Type 1 Myotonic Dystrophy

Question 16

If a person with Myotonic Dystrophy develops cardiac problems, stiffness, and respiratory functions?

Answer 16

Type 2 Myotonic Dystrophy

Question 17

What form of MD affects the shoulders and hips causing contractures?

Answer 17

Limb-Girdle MD

Question 18

How does Limb-Girdle MD affect the life?

Answer 18

Usually not affected; cardiac involvement is low; just need to do frequent stretching

Question 19

If a 25 year old patient presents with mild facial weakness – a pouting appearance – and on PE you also find shoulder weakness, with a history of frequent shoulder dislocations?

Answer 19

Fasiosapulohumeral MD

Question 20

How do you diagnose Fasiopsapulohumeral MD?

Answer 20

Try a push up & sit up. Scapular winging. Reversal of anterior axially folds. Decreased hearing. Genetic testing. EMG patterns.

Question 21

If a patient presents with ptosis and dysphagia with tongue atrophy, what is the diagnosis?

Answer 21

Oculopharyngeal MD

Question 22

If a patient has dysphagia, what are they at risk for?

Answer 22

Aspiration/pneumonia

Question 23

If a patient lacks muscle tone at birth - “floppy baby” – what diagnosis are you thinking?

Answer 23

Congenital MD

Question 24

In general, how do you diagnose most MD disorders?

Answer 24

Clinically & genetic testing