Loading....
Coupon Accepted Successfully!

Paediatric

Open Flashcards

Neurology

Question
68 out of 92
 

Duchenne Muscular Dystrophy is a disease of (LQ)



A Neuromuscular junction

B Sarcolemmal proteins

C Muscle contractile proteins

D Disuse atrophy due to muscle weakness

Ans. B

Sarcolemmal protein

DUCHENNE MUSCULAE DYSTROPHY: (PSEUDOHYPERTROPHIC MUSCULARDYSTROPHY)

o Duchenne muscular dystrophy is the most common hereditary neuromuscular disease affecting all races and ethnic groups.

o Inheritance : X linked recessive

o Presentation occurs between ages 3 and 5 [disorder does not present at birth or in infancy]

Pathogenesis

o Duchenne muscular dystrophy is caused by a mutation in the gene responsible for producing dystrophIn.

o Dystrophin is 'subsarcolemmal protein' localized to the inner surface of the sarcolemma of the muscle fibre.

o Dystrophin is part of Dystrophin - Glycoprotein sarcolemmal complex and this protein deficiency leads to secondary loss of sarcoglycans and dystroglycans resulting in weakness of sarcolemma, causing membrane tears and muscle fiber necrosis.

Clinical manifestations:

o Gower's sign is positive

o Pseudohypertrophy of calf is seen (muscle is replaced by fat & connective tissue)

o Loss of muscle strength is progressive.

o Proximal muscles and neck flexors are involved more

o Leg involvement is more severe than arm involvement.

o Contractures of heel cords and iliotibial band occurs (by age of 6 years)

o progressive scoliosis develops.

Complications:

Chest deformity (scoliosis): Impairs pulmonary function

By age of 16 and 18 years patients are predisposed to serious pulmonary fatal infections.

Cardiac: Cardiomyopathy and CHF may be seen

Cardiac cause of death is uncommon

Intellectual impairment: is common (IQ is one SD below the mean)

Neurology Flashcard List

92 flashcards
1)
2)
3)
4)
5)
6)
7)
8)
9)
10)
11)
12)
13)
14)
15)
16)
17)
18)
19)
20)
21)
22)
23)
24)
25)
26)
27)
28)
29)
30)
31)
32)
33)
34)
35)
36)
37)
38)
39)
40)
41)
42)
43)
44)
45)
46)
47)
48)
49)
50)
51)
52)
53)
54)
55)
56)
57)
58)
59)
60)
61)
62)
63)
64)
65)
66)
67)
68)
69)
70)
71)
72)
73)
74)
75)
76)
77)
78)
79)
80)
81)
82)
83)
84)
85)
86)
87)
88)
89)
90)
91)
92)