Myopathies

Question 1

What is a steadily progressive, X-linked muscular dystrophy that occurs within the first 5 years of life?

Answer 1

Duchenne’s syndrome

Question 2

What are the cardinal clinical signs of Duchenne’s syndrome?

Answer 2

abnormal run, Gower’s sign, proximal muscle weakness, and gastrocnemius hypertrophy

Question 3

What is the life expectancy of an individual with Duchenne’s syndrome?

Answer 3

late teens, early 20s

Question 4

What is extremely elevated and is the key lab result for an individual with Duchenne’s syndrome?

Answer 4

Creatine Kinase

Question 5

At what age is an individual wheel chair bound with Duchenne’s?

Answer 5

by 12 years old

Question 6

What muscular dystrophy is the same as Duchenne’s except it has a later onset with slower progression?

Answer 6

Becker’s syndrome

Question 7

When is the typical onset of Becker’s?

Answer 7

After 5 years old

Question 8

What happens to the Creatine Kinase with Becker’s?

Answer 8

elevated then drops and keeps doing that

Question 9

What is a X-Linked Muscular Dystrophy that has a late childhood through adult presenting with difficulty walking, rigidity of neck/spine, along with cardiac arrhythmia?

Answer 9

Emery-Dreifuss syndrome

Question 10

What are the 4 cardinal clinical signs of Emery-Dreifuss syndrome?

Answer 10

Equinus of feet
flexion of elbows
rigidity of spine
wasting of muscles

Question 11

What Muscular dystrophy is dominantly inherited dystrophy affecting the facial and shoulder girdle muscles?

Answer 11

Facioscapulohumeral Muscular dystrophy

Question 12

What are the 4 cardinal clinical signs of Facioscapulohumeral Muscular dystrophy?

Answer 12

facial weakness
shoulder girdle weakness
terracing of shoulder on abduction
lordosis and pelvic girdle weakness

Question 13

What MD is an autosomal recessive MD of variable severity that resembles abnormal gait, lordotic posture, inability to hop or get up form floor, variable muscle weakness, and prominence in calves?

Answer 13

Limb-Girdle Muscular dystrophy

Question 14

What is a delayed relaxation after a sustained contraction?

Answer 14

Myotonia

Question 15

How is myotonia decreased?

Answer 15

with repeated contractions

Question 16

What type of myotonia is an inherited disorder in which myotonia is the only feature that presents with stiffness after rest or sustained activity, stiffness and immobility on waking, difficulty releasing grip or object, and sustained eye closure in crying infant?

Answer 16

Myotonia congenita

Question 17

What is another name for Myotonia congenita?

Answer 17

Thompsen’s Disease

Question 18

With Thompsen’s disease, what is the prominent sound you will hear with an EMG?

Answer 18

dive bomber sound

Question 19

What type of Myotonia has muscle weakness with atrophy, cataracts, premature balding, cardiomyopathy with condition defects, gonadal atrophy, intellectual deficit and dementia?

Answer 19

Myotonic dystrophy

Question 20

What’s another name for Myotonic dystrophy?

Answer 20

Steinert’s Disease

Question 21

What type of Myotonia is an autosomal dominant gene, intensifies with exercise, and is sensitive to the cold?

Answer 21

Paramyotonia congenita

Question 22

What is another name for Paramyotonia congenita?

Answer 22

Eulenberg’s Disease

Question 23

What type of paralysis does Eulenberg disease resemble?

Answer 23

hyperkalemic periodic paralysis