Muscular Dystrophy and Related Disorders

Question 1

disorders of the motor nerve

Answer 1

1. Polio
2. Charcot Marie Tooth
3. ALS

Question 2

Disorders at the neuromuscular junction:

Answer 2

Myesthenia Gravis

Question 3

Disorders of the muscle

Answer 3

• Muscular Dystrophy
• Spinal Muscular Atrophy

Question 4

Onset 1-4 years, x-linked, rapid progression

Answer 4

Duchenne Muscular Dystrophy

Question 5

Onset 5-10 years, x-linked, slower progression

Answer 5

Becker Muscular Dystrophy

Question 6

Onset at birth, recessive, slow progression, shortened life-span

Answer 6

Congenital Muscular Dystrophy

Question 7

Onset Birth, slow progression with significant intellectual impairment

Answer 7

Congenital Myotonic Muscular Dystrophy

Question 8

Onset in 1st decade, slow progression, late loss of ambulation, variable life expectancy

Answer 8

Facioscapulohumeral

Question 9

Werdniq-Hoffman Chronic AKA

Answer 9

SMA Type I

Question 10

Werdniq-Hoffman acute AKA

Answer 10

SMA Type I

Question 11

Answer 11

Duchenne Muscular Dystrophy

Question 12

In Duchenne’s, _____ offspring inherit the disease from their asymptomatic mothers

Answer 12

male

Question 13

Absence of dystrophin leads to a reduction in all of the dystrophin-associated proteins in the
muscle cell membrane. Causes a disruption in the linkage between the subsarcolemma cytoskeleton and the extracellular matrix

Answer 13

Duchenne Muscular Dystrophy

Question 14

In Duchenne’s, __________levels in the blood are significantly elevated, 100x in the early stages of the disease and are elevated even at birth.

Answer 14

Creatine Kinase (CK)

Question 15

Duchenne clinical presentation

Answer 15

• Progressive wekaness, lordosis, waddling gait
• Toe walking
• Pseudohypertrophy of the calves
• Gower’s sign

Question 16

toe walker diseases

Answer 16

• Autism
• Cerebral Palsy (Spasticity, stiffness)
• Duchenne (big calves, Gower’s sign, weakness)
• Habitual toe walkers (associated with speech and language delay, but can walk normally)

Question 17

The major cause of respiratory complications in DMD is the progressive weakness of the

Answer 17

muscles of respiration

Question 18

true or false. Dystrophin deficient muscle is very susceptible to exercise induced muscle injury

Answer 18

true

SO BE CAUTIOUS

Question 19

Symptoms are first noticed during adolescence and are characterized by myotonia, a delay in muscle relaxation time, and muscle weakness:

Answer 19

Myotonic Dystrophy (MTD)

Question 20

a disorder that is manifested by a loss of anterior horn cells

Answer 20

Spinal Muscular Atrophy

Question 21

also known as hereditary motor and sensory neuropathy (HMSN) or peroneal muscular atrophy, comprises a group of disorders that affect peripheral nerves

Answer 21

Charcot Marie Tooth Disease

Question 22

Answer 22

Charcot Marie Tooth Disease

• Foot deformities
• weakness of the foot and lower leg muscles, which may result in foot drop and a high-stepped gait with frequent tripping or falls.

Question 23

an autosomal dominant disease that results from a duplication of the gene on chromosome 17 that carries the instructions for producing the peripheral myelin protein-22 (PMP-22). The PMP-22 protein is a critical component of the myelin sheath.

Answer 23

Charcot Marie Tooth Disease
CMT1

Question 24

Patients experience weakness and atrophy of the muscles of the lower legs beginning in adolescence; later they experience hand weakness and sensory loss.

Answer 24

Charcot Marie Tooth Disease