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specialties > Genetics- Multisystem Disorder > Flashcards

Genetics- Multisystem Disorder Flashcards

1
Q

How can the genetics of multisystem disorders exist?

A

Mutations or Inherited

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2
Q

What chromosomal mutations can exist?

A

Numerical

Structural

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3
Q

What is an example of a numerical chromosomal mutation?

A

Trisomy 21

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4
Q

What are examples of structural chromosomal mutations?

A

Translocations
Deletions
Microdeletions

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5
Q

What are single gene disorders that can cause multisystem disorders?

A

Autosomal dominant
Autosomal recessive
X-linked

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6
Q

What is an example of an autosomal dominant single gene disorder?

A

Muscular dystrophy

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7
Q

What is an example of an autosomal recessive single gene disorder?

A

Cystic fibrosis

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8
Q

What is an example of an X-linked single gene disorder?

A

Duchenne muscular dystrophy

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9
Q

What is a common problem with multisystem disorders?

A

Variable expression within as well as between families- sometimes difficult to predict phenotype from genotype

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10
Q

What type of condition is neurofibromatosis Type 1?

A

Autosomal dominant

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11
Q

What is the NHS diagnostic criteria for Neurofibromatosis Type 1?

A 
2 or more of:
•	café au lait spots - 6 or more
•	neurofibromas - 2 or more
•	axillary freckling
•	Lisch nodules (specks in iris) 
•	optic glioma
•	thinning of long bone cortex
•	family history
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12
Q

How is Neurofibromatosis Type 1 diagnosed?

A

Clinical diagnosis using diagnostic criteria

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13
Q

What is done for someone at risk of neurofibromatosis type 1 until diagnosis can be excluded?

A

Annual review of affected individuals and at risk children until diagnosis can be excluded (5 years)

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14
Q

What is checked for in someone with possible neurofibromatosis type 1?

A
  • BP
  • spine for scoliosis
  • tibia for unusual angulation
  • visual acuity and visual fields
  • educational assessment
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15
Q

What are some other possible features of Neurofibromatosis type 1?

A
  • Learning difficulties
  • Scoliosis
  • Pseudoarthrosis of the tibia
  • Raised BP
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16
Q

What gene is associated with NF1?

A

17q- tumour suppressor gene

17
Q

What are the main features of NF2?

A
  • acoustic neuromas- usually bilateral
  • CNS and spinal tumours
  • a few CAL spots
18
Q

Where is the gene for NF2 located?

A

Chromosome 22

19
Q

What is the classic triad of tuberous sclerosis?

A
  • Epilepsy
  • Learning difficulty
  • Skin lesions
20
Q

What can present in different organs with tuberous sclerosis?

A

Hamartomas

21
Q

What type of condition is tuberous sclerosis?

A

Autosomal dominant

22
Q

What are the 2 genes associated with tuberous sclerosis?

A

TSC1
TSC2
on different chromosomes

23
Q

How does tuberous sclerosis differ between family members?

A

Variable expression between family members- severity varies

24
Q

What are the clinical features of tuberous sclerosis?

A 
Learning difficulties 
Seizures 
Skin lesions 
Kidney cysts and angiomyolipomata 
Phakomas in the eye 
Rhabdomyomas in the heart
25
Q

What features of learning difficulties are present with TS?

A

Autistic features are common

26
Q

What type of seizures are common with TS?

A
  • infantile spasms

* myoclonic seizures

27
Q

What type of skin lesions are common with TS?

A
  • depigmented macules
  • angiofibromas
  • fibrous plaque forehead
  • shagreen patches
  • ungual fibromas
28
Q

Why is screening at risk relatives important for angiomyolipomata important?

A

They may develop renal tumours

29
Q

What examinations would you do for tuberculous sclerosis?

A
  • Nails
  • retinal examination
  • Cranial MR scan- brain features
  • Renal ultrasound- renal cysts or tumours
  • Echocardiogram
30
Q

What is myotonic dystrophy?

A

Distal muscles and diaphragm become weak

31
Q

What type of condition is myotonic dystrophy?

A

Autosomal dominant

32
Q

What is myotonic dystrophy caused by?

A

CTG repeat which exhibits anticipation with increasing severity in each generation

33
Q

How does myotonic dystrophy present?

A
  • Bilateral late-onset cataract
  • Typical: muscle weakness, stiffness & myotonia
  • Low motivation
  • Bowel problems
  • Sometimes diabetes mellitus
34
Q

What is a common cause of death in myotonic dystrophy?

A

Heart block

35
Q

Why does the patient need to be monitored post anaesthesia?

A

Risk of death

36
Q

What can present in congenital myotonic dystrophy?

A

Severe muscle disorder and learning difficulties

Death

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