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Special 2 > Genetics- Conditions > Flashcards

Genetics- Conditions Flashcards

1
Q

What is neurofibromatosis 1?

A

Genetic disorder characterised by the development of multiple benign tumours of nerves and skin (neurofibromas) and areas of abnormal skin colour (pigmentation).

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2
Q

What type of condition is Neurofibromatosis 1?

A

Genetic condition- Autosomal dominant

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3
Q

What is neurofibromatosis 1 characterised by?

A

The development of multiple benign tumours of nerves and skin (neurofibromas) and Areas of abnormal skin colour (pigmentation).

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4
Q

What causes neurofibromatosis 1?

A

Defect in 17q tumour suppressor gene

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5
Q

What are the main features of Neurofibromatosis 1?

A
  • Cafe au lait spots (6+)
  • Neurofibromas (2+)
  • Axillary Freckling
  • Lisch nodules (iris specks)
  • Optic glioma
  • Thinning of long bone cortex
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6
Q

How many cafe au lait spots are diagnostic of neurofibromatosis 1?

A

6+

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7
Q

How many neurofibromas are diagnostic of neurofibromatosis 1?

A

2+

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8
Q

How many clinical features need to be present for the diagnosis of Neurofibromatosis 1?

A

2 or more clinical presentations

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9
Q

What is there annual review of in someone with Neurofibromatosis 1?

A
  • BP
  • Spine for scoliosis
  • Tibia angulation
  • Visual acuity/fields
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10
Q

Is there a cure for neurofibromatosis 1?

A

No- there is no cure

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11
Q

What is neurofibromatosis 2 commonly associated with?

A

Acoustic neuromas

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12
Q

What is neurofibromatosis 2 characterised by?

A

Benign tumours develop occur on the nerves for balance and hearing leading to the inner ear.

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13
Q

What type of condition is neurofibromatosis 2?

A

Hereditary condition

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14
Q

What causes neurofibromatosis 2?

A

NF gene on chromosome 22

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15
Q

What are the main features of Neurofibromatosis 2?

A
  • Acoustic neuromas- usually bilateral
  • CNS and spinal tumours
  • A few CAL spots
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16
Q

Is there a cure for neurofibromatosis 2?

A

No

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17
Q

What type of condition is Tuberous sclerosis?

A

A rare multisystem genetic disease

18
Q

What is tuberous sclerosis characterised by?

A

Benign tumours to grow in the brain and on other vital organs such as the eyes, heart, lungs, liver, kidneys, and skin.

19
Q

What causes tuberous sclerosis?

A

Two genes on different chromosomes with identical phenotypes (TSC1, TSC2).

20
Q

What are the 2 genes that cause tuberous sclerosis?

A

TSC1 and TSC2

21
Q

What is the genetic inheritance of tuberous sclerosis?

A

Autosomal dominant

22
Q

What is the classic triad of tuberous sclerosis?

A

1) Skin lesion
2) Epilepsy
3) Learning difficulty

23
Q

What skin lesions can tuberous sclerosis present with?

A 
Depigmented macules
Angiofibromas
Fibrous plaque forehead
Shagreen patches
Ungual fibromas
24
Q

Which seizures are associated with tuberous sclerosis?

A

Infantile spasms

Myoclonic seizures

25
Q

What learning difficulty is associated with tuberous sclerosis?

A

Autism

26
Q

What heart problem is associated with tuberous sclerosis?

A

Rhabdomyomas in the heart

27
Q

What kidney problems as associated with tuberous sclerosis?

A

Kidney cysts

Angiomyolipomata

28
Q

What eye condition is associated with tuberous sclerosis?

A

Phakomas

29
Q

Is there treatment for tuberous sclerosis?

A

No

30
Q

What does myotonic dystrophy cause?

A

Progressive muscle weakness and wasting.

31
Q

What is myotonic dystrophy the most common form of

A

Muscular dystrophy that occurs in adulthood

32
Q

What type of inheritance does myotonic dystrophy have?

A

Autosomal dominant

33
Q

What gene is affected with myotonic dystrophy?

A

Chromosome 19

34
Q

What are possible symptom of myotonic dystrophy?

A
  • Muscle weakness
  • Muscle stiffness
  • Myotonia (inability to relax voluntary muscle after vigorous effort)
  • Bilateral late-onset cataract
  • Bowel problems
  • Congenital myotonic dystrophy (Death / severe muscle disorder and learning difficulty)
  • Heart block
35
Q

What is Huntington’s Disease?

A

Inherited neurodegenerative condition

36
Q

How does Huntington’s disease progress?

A

Progressive and incurable condition that typically results in death 20 years after the initial symptoms develop.

37
Q

What type of inheritance does Huntington’s disease have?

A

Autosomal dominant

38
Q

What genetic abnormality is characteristic of Huntington’s disease?

A

Trinucleotide repeat disorder: repeat expansion of CAG

39
Q

What happens in successive generations in terms of the disease with Huntington’s?

A

Disease is presents at an earlier age in successive generations because it is a trinucleotide repeat disorder

40
Q

Which gene is affected with Huntington’s disease?

A

Due to defect in huntingtin gene on chromosome 4

41
Q

When do the features of Huntington’s typically develop?

A

After 35 years of age

42
Q

What are the characteristic features of Huntington’s disease?

A

chorea
personality changes (e.g. irritability, apathy, depression) and intellectual impairment
dystonia
saccadic eye movements

Special 2 (14 decks)

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