Muscular Dystrophies

Question 1

Most common type of dytstrophy

Answer 1

Duchenne

Question 2

Onset for DMD

Answer 2

1-5 years old

Question 3

Progression for DMD

Answer 3

loss of walking by 9-10 y/o; death in late teens

Question 4

Inheritance for DMD

Answer 4

X-Linked

Question 5

Characterized by slow progression

Answer 5

BMD

Question 6

Onset for BMD

Answer 6

5-10 y/o

Question 7

Inheritance for BMD

Answer 7

X-Linked

Question 8

Progression/course of BMD

Answer 8

Maintains walking past 16 y/o; Life span lasts up until the 3rd decade

Question 9

Characterized by shortened lifespan

Answer 9

CMD

Question 10

Onset for CMD

Answer 10

Birth

Question 11

Inheritance for CMD

Answer 11

Recessive

Question 12

Characterized by significant intellectual impairment

Answer 12

Congenital Myotonic Dystrophy (CMyD)

Question 13

Inheritance for CMyD

Answer 13

Dominant

Question 14

Onset for CMyD

Answer 14

Birth

Question 15

Presents with loss of walking in later life

Answer 15

Childhood-Onset Fascioscapulohumeral (COFS)

Question 16

Onset for COFS

Answer 16

1st decade

Question 17

Inheritance for COFS

Answer 17

Either Recessive/Dominant

Question 18

Characterized by cardiac abnormality but has a normal lifespan

Answer 18

Emery-Dreifuss Muscular Dystrophy (EDMD)

Question 19

Onset for EDMD

Answer 19

Childhood to early teens

Question 20

Inheritance for EDMD

Answer 20

X-linked

Question 21

Caused by thyroid gland dysfunction

Answer 21

Endocrine myopathy

Question 22

Presents with inflamed muscles that cause pain

Answer 22

Inflammatory myopathy

Question 23

Where does muscle weakness present in pts c DMD

Answer 23

Proximal

Question 24

Sign commonly seen in pts c DMD

Answer 24

Gower’s sign

Question 25

Mean IQ for pts c DMD

Answer 25

88

Question 25

Orthotic management for pts c DMD

Answer 25

HKAFO Scoliosis brace Assistive devices

Question 26

Brace for above T6

Answer 26

Milwaukee

Question 27

Brace for below T6

Answer 27

Miami

Question 28

Brace for below T8

Answer 28

Boston Yamamoto Wilmington

Question 29

Hypertrophied muscles in DMD

Answer 29

Gastrocsoleus

Question 30

Second most common type of DMD

Answer 30

BMD

Question 31

Common site of weakness in pts c COFS

Answer 31

Facial muscles Scapular stabilizers Biceps/Triceps Peroneals

Question 32

Type 1 LGMD

Answer 32

Dominant

Question 33

Type 2 LGMD

Answer 33

Recessive

Question 34

Common sites of affectation in LGMD

Answer 34

Arms and Shoulders Hips and Legs

Question 35

Characterized by the inability to relax muscles

Answer 35

Myotonic Dystrophy (CMyD)

Question 36

Myotonic Dystrophy is more common among what age group?

Answer 36

Adults

Question 37

Clinical features of Myotonic Dystrophy

Answer 37

Fish-shaped mouth Atrophied forearms Bi-temporal narrowing

Question 38

Foot deformity commonly found among pts c Myotonic Dystrophy.

Answer 38

Club foot

Question 39

Inability to relax muscles

Answer 39

Myotonia

Question 40

Characterized by contractures in the neck, elbows, spine, and heels

Answer 40

EDMD

Question 41

EDMD is more common in what sex?

Answer 41

Males

Question 42

Clinical manifestations for pts c EDMD

Answer 42

Toe walking Cardiac problems by 20 y/o

Question 43

Increased in thyroid hormones

Answer 43

Hyperthyroidism; Grave's disease

Question 44

Decreased thyroid hormones

Answer 44

Hypothyroidism; Hashimoto's disease

Question 45

Hypoparathyroidism results in

Answer 45

hypocalcemia

Question 46

Excess in cortisol

Answer 46

Hyperadrenalism; Cushing syndrome

Question 47

Lack of cortisol and aldosterone

Answer 47

Hypoadrenalism; Addison's disease

Question 48

3 types of inflammatory myopathy

Answer 48

Polymyositis Dermatomyositis Inclusion body myositis

Question 49

which affects skeletal muscles on both sides of the body

Answer 49

Polymyositis

Question 50

which causes skin rashes and progressive muscle weakness

Answer 50

Dermatomyositis

Question 51

which is characterized by slow, progressive muscle weakness and muscle shrinking and loss of muscle

Answer 51

Body Inclusion Myositis