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Specialties > Genetics > Flashcards

Genetics Flashcards

1
Q

Examples of Multi-system Genetic Disorders

A
  • Neurofibromatosis types 1 +2
  • Tuberous Sclerosis
  • Myotonic Dystrophy
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2
Q

What is Neurofibromatosis type 1?

Recklinghausen’s disease

A

Genetic disorder

  • Autosomal dominant due to 17q gene (inherited or spontaneous mutation 50/50)
  • Multiple benign tumours of nerves and skin (neurofibromas)
  • Pigmentation
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3
Q

Diagnostic features for NF1?

A
  • Café Au Lait Spots (6+)
  • Axillary freckling
  • Neurofibromas (2+)
  • Lisch Nodules (specks in iris)
  • Optic glioma
  • Thinning of long bone cortex
  • Family History of having NF1
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4
Q

Additional features of NF1?

A
  • Macrocephaly
  • Epilepsy
  • Scoliosis
  • Short Stature
  • Dysmorphic features ‘Noonan Look’
  • Learning difficulties
  • Pseudoarthrosis of tibia
  • Raised BP (pheochromocytoma)
  • Neoplasia (CNS, optic glioma, Endocrine)
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5
Q

Management of NF1?

A

NO CURE
Regular monitoring and treatment of problems that occur
- BP check, Spine for scoliosis, tibia, visual acuity and fields
- Education assessment and psychological support
- Physiotherapy
- Surgery to remove tumours/bone abnormality

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6
Q

What is Neurofibromatosis type 2?

A

Hereditery conditioin

  • Benign tumours on nerves leading to the inner ear for balance
  • Commonly associated with bilateral vestibular schwannomas
  • NF2 gene is on Chromosome 22
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7
Q

Diagnostic features of NF2?

A
  • Acoustic neuromas (bilateral vestibular schwannomas)
  • Few Café Au Lait spots
  • CNS and Spinal tumours
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8
Q

Treatment for NF2?

A

NO CURE

  • Surgery (tumours)
  • Hearing aid
  • Learning to lip read
  • Mobility Device
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9
Q

What is Tuberous Sclerosis (TS)?

A

Rare multisystem genetic disease

  • Benign tumours grow on the brain and other vital organs
  • Autosomal dominant with 2 causative genes (one phenotype) 60% new mutations
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10
Q

Presentation of Tuberous Sclerosis?

A

TRIAD
1.) Skin Lesion - Macules, angiofibromas, plaque forehead, shagreen patches

  1. ) Epilepsy - Seizures in 65%, infantile spasms, myoclonic
  2. ) Learning difficulty - 40%, autistic features
  • Phakomas in the eye
  • Rhabdomyomas in the heart
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11
Q

Screening for relatives at risk of TS?

A

Siblings and Parents may be mildly affected

Clinical examination
Cranial MRI
Echocardiogram
Renal ultrasound

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12
Q

Treatment for Tuberous sclerosis?

A

NO CURE
Treat any problems that occur
e.g. surgery or medication for patients with epilepsy
e.g. educational support for learning difficulties

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13
Q

What is Myotonic Dystrophy?

MMD

A

Inherited disorder - part of muscular dystrophies

  • Progressive muscle weakness and wasting
  • Appears in adulthood
  • Autosomal dominant on Chromosome 19, CTG repeat sequence
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14
Q

Presentation of Myotonic Dystrophy?

A

Congenital presentation: club foot, learning difficulty, death etc
Mainly in adulthood
- Muscle weakness and stiffness (Myotonia)
- Bilateral late-onset cateract
- Bowel problems
- Heart Block
- DM

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15
Q

Treatment for Myotonic Muscular dystrophy?

A

No Cure, just treat problems that occur

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16
Q

What is Huntington’s disease?

A

Inherited condition, autosomal dominant (50% chance of passing it on)

  • Stops parts of the brain working properly over time
  • Adult onset (late 30’s), Progressive disease
17
Q

Movement symptoms of Huntington’s disease?

A
  • Chorea (neurological disorder, jerky involuntary movements)
  • Athetosis (abnormal contraction - writhing movements)
  • Myoclonus (Spasmodic jerky contractions)
  • Rigidity
18
Q

Cognitive presentation of Huntington’s Disease?

A
  • Poor planning and memory

- Subcortical dementia (executive function - not classical dementia)

19
Q

Psychiatric presentation of Huntington’s Disease?

A
  • Personality change: Disinhibition, apathy, irritable, self-centred, loss of empathy
  • Depression
  • Paranoia
  • Psychosis
20
Q

Management of Huntington’s Disease?

A 
NO CURE
Treat symptoms
- physiotherapy
- speech and language therapy
- OT aids
- Anti-depressants

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