Muscular Dystrophy and Related Disorders Flashcards Preview

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Flashcards in Muscular Dystrophy and Related Disorders Deck (24):
1

disorders of the motor nerve

  1. Polio
  2. Charcot  Marie Tooth
  3. ALS

2

Disorders at the neuromuscular junction:
 

Myesthenia Gravis 

3

Disorders of the muscle
 

  • Muscular Dystrophy
  • Spinal Muscular Atrophy
     

4

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

Duchenne Muscular Dystrophy

5

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

Becker Muscular Dystrophy 

6

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

Congenital Muscular Dystrophy

7

Onset Birth, slow progression with significant intellectual impairment 

Congenital Myotonic Muscular Dystrophy

8

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

Facioscapulohumeral

9

Werdniq-Hoffman Chronic AKA

SMA Type I

10

Werdniq-Hoffman acute AKA

SMA Type I

11

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Duchenne Muscular Dystrophy

12

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

male

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
 

Duchenne Muscular Dystrophy

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.
 

Creatine Kinase (CK)

15

Duchenne clinical presentation

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

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16

toe walker diseases

  • 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)

17

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

muscles of respiration
 

18

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

true

SO BE CAUTIOUS

19

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

Myotonic Dystrophy   (MTD) 

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20

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

Spinal Muscular Atrophy
 

21

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

Charcot Marie Tooth Disease 

22

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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. 

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. 

Charcot Marie Tooth Disease
CMT1

24

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

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Charcot Marie Tooth Disease