Genetic Diseases Flashcards

1
Q

What pattern of inheritance does Duchenne muscular dystrophy (DMD) follow?

A

X-linked recessive

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2
Q

Where is delay in motor movement and muscle weakness usually present in DMD?

A

Pelvic and shoulder girdles

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3
Q

When does death typically occur in DMD and why?

A

Between 20 and 30 years old

Cardiorespiratory muscle dysfunction

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4
Q

List some clinical features of DMD

A

Thigh muscle wasting
Gower sign
Exaggerated lumbar lordosis

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5
Q

Which protein is deficient in DMD? Why is it important?

A

Dystrophin

Connects contractile cell elements together - without it muscles can’t renew or operate

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6
Q

What type of genetic abnormalities affects the dystrophin gene in DMD?

A
Large deletions (70%)
Point mutations, small insertions and deletions (30%)
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7
Q

List investigations for DMD

A

Serum CK (raised)
Electromyography
Muscle biopsy
Genetic screen

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8
Q

Asymptomatic carriers of the DMD gene can have raised serum CK. True/False?

A

True

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9
Q

When is the usual onset for Huntington disease?

A

Between 30-50 years old but can vary

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10
Q

List the clinical features of Huntington disease

A
Involuntary, semi-purposeful movements
Clumsiness
Irritability/agitation
Apathy
Delusions/hallucinations
Depression
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11
Q

What inheritance pattern does Huntington disease follow?

A

Autosomal dominant

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12
Q

What happens to the basal ganglia in the brain in Huntington disease?

A

Caudate nucleus atrophy

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13
Q

What is the molecular genetic defect in Huntington disease?

A

Trinucleotide CAG repeat expansion (extra glutamine produced)

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14
Q

Alzheimer disease is a multifactorial genetic disease. Which inheritance patterns can it follow?

A
Autosomal dominant (10%)
Trisomy 21 (with Down syndrome)
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