week 5 - DMD Flashcards

1
Q

What are Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) referred to?

A

Xp21 dystrophies bc of genetic basis being variants in the DMD gene, which encodes dystrophin, at this locus

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2
Q

is DMD or BMD more severe?

A

DMD

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3
Q

incidences od DMD

A

approx 1:3500

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4
Q

incidences of BMD

A

approx 1:20k

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5
Q

When does DMD present itself in male patients?

A

between ages 2-4 with slowly progressive muscle weakness resulting in awkward gait, inability to run quickly, difficulty rising form the floor

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6
Q

How can DMD patients get up from the floor?

A

Gower’s sign - climbing up the legs and tight

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7
Q

when do most affected boys require a wheelchair by?

A

age 11, due to severe proximal weakness

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8
Q

what are more severe consequences of DMD?

A

lumbar lordosis, joint contractures, cardiorespiratory failure

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9
Q

What is the life expectancy for boys with DMD?

A

late teens, early 20s

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10
Q

Is there a cure?

A

no, beneficial treatments such as steroids and respiratory support in the form of continuous positive airways pressure (CPAP)

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11
Q

What is unusual about male calves when DMD or BMD is present?

A

increase in size, but mainly due to replacement of muscle fibres by fat and connective tissue - pseudohypertrophy

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12
Q

What about intellectual ability in DMD patients?

A

1/3 of boys show mild-moderate intellectual impairment, mean intelligence quotients of 83

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13
Q

How severe is BMD in comparison?

A

similar but less aggressive course, mean age of onset is 11, many remain ambulant until well into adult life, life expectancy only slightly reduced

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14
Q

What is the genetic basis of DMD and BMD?

A

X-linked recessive

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15
Q
A
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