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Neurology > Patho- Genetic disorders > Flashcards

Patho- Genetic disorders Flashcards

1
Q

Describe the genetics of Duchenne MD

A

X-linkes

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2
Q

What is the pathology of DMD?

A

Dystrophin links actin/myosin to cell membrane. Loss prevents myocytes from renewing.

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3
Q

What are some symptoms of DMD?

A

Delayed motor development
Pelvic and pectorial girdle weakness at 3-4YO: Gives accentuated lumbar lordosis and Gower’s sign
Calf hypertrophy- Toe walking
Death by resp muscle failure

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4
Q

How do you diagnose DMD?

A

Clinically
Muscle biopsy: Muscle fibre size variation, Necrosis and Replacement with fat
Genetic testing
Raised CK

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5
Q

What is a mild form of DMD?

A

Becker’s MD

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6
Q

What is the differential for DMD?

A

Autosomal recessive limb girdle muscular dystrophies

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7
Q

How do you treat DMD?

A

No cure
Physio for muscle contractions
Resp support

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8
Q

Describe the genetics of Huntington’s

A

Autosomal dominant on Ch4

Multiple CAG repeats in Huntington gene

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9
Q

Describe the pathology of Huntington’s

A

Cerebral atrophy: Loss of caudate nucelus and Loss of putamen
Reduced Ach and GABA synthesis
Raised somatostatin

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10
Q

How do the number of CAG repeats dictate the severity of Huntington’s?

A

More repeats the worse the disease

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11
Q

How many CAG repeats are considered pathological in Huntington’s?

A

36

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12
Q

When does Huntington’s tend to start?

A

30-50

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13
Q

What are some early signs for Huntington’s?

A 
Clumsiness
Agitation
Irritability
Apathy
Anxiety
Disinhibition
Hallucinations
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14
Q

What are some later signs of Huntington’s disease?

A 
Chorea
Dystonia
Involuntary movements
Balance/walking deficits
Slow voluntary movements
Difficulty initiating movement
Loss of control of movement
Rigidity
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15
Q

How do you treat Huntington’s?

A

No treatment

Phenothiazines for chorea

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16
Q

What is multiple sclerosis?

A

Chronic inflammation of the CNS

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17
Q

What part of the CNS does MS affect?

A

White matter

18
Q

What are the symptoms of MS?

A 
Motor weakness
Optic neuritis
Brainstem demyelination
Spinal cord lesion
Sensory symptoms
Cognitive impairment
Epilepsy
Fatigue
19
Q

How does optic neuritis present in MS?

A

Blurring of vision in one eye
Mild pain
Develops over hours
Recovery in 2 months

20
Q

How does brainstem demyelination present in MS?

A 
Diplopia
Vertigo
Nystagmia
Facial numbness
Dysarthria
Dysphagia
21
Q

How does a spinal cord lesion present in MS?

A

Spastic paraparesis developing over days or weeks
Lhermitte’s sign- Feels like electrical shock down legs
Lower urinary tract dysfunction

22
Q

What are the sensory symptoms in MS?Pain

A

Pain
Parastesia
Loss of proprioception

23
Q

How do you diagnose MS?

A

MRI

MacDonald Criteria

24
Q

Describe the MacDonald Criteria for MS

A

2 or more attacks (relapses)/2 or more objective clinical lesions -> None
2 or more attacks/ 1 objective clinical lesion
1 attack/ 2 or more objective clinical lesions
1 attack/ 1 objective clinical lesion (clinically isolated syndrome)  Dissemination in space and time
Insidious neurological progression suggestive of MS (primary progressive MS)

25
Q

What is the differential for MS?

A

Vasculitis
Granulomas
Vascular
Infection

26
Q

What is the patho of MS?

A

Multiple demyelination plaques
Increase in inflammatory cells in lesions
Over time axons are damaged

27
Q

What are the main types of MS?

A

Relapsing remitting
Primary progressive
Secondary progressive

28
Q

Describe relapsing remitting MS

A

Period of symptoms then get better

29
Q

Describe primary progressive MS

A

Progressive symptoms without relapse

30
Q

Describe secondary progressive MS

A

Relapsing remitting the changes to progressive

31
Q

How do you treat MS?

A

Exercise
Stop smoking
Treat exacerbation
Give disease modifiers

32
Q

How can you treat exacerbations of MS?

A

Symptomatic treatment
Steroids
Admit and IV steroids

33
Q

What are some first line disease modifiers in MS?

A 
Beta interferon for RR
Glitiramer acetate (copaxone)
Tecfidera
34
Q

What are some second line disease modifiers in MS?

A

Tysabri- Associated with Progressive multifocal leukoencephalopathy (PML).
Fingolimod

35
Q

What are some third line disease modifiers in MS?

A

Mitoxantone- Cardiotoxic

36
Q

What is cerebral palsy?

A

Inter-uterine or neonatal brain damage

37
Q

What are some symptoms of cerebral palsy?

A

Learning problems- Failure to meet normal milestones
Physical disability- Spastic diplegia
Infantile hemiparesis
Congenital ataxia

38
Q

What are some causes of cerebral palsy?

A 
Hypoxia
Neonatal cerebral haemorrhage and/or infarction 
Trauma
Prolonged seizures
Hypoglycemia
39
Q

What are some Neuroectoderm syndromes?

A

Neurofibromatosis type 1
Neurofibromatosis type 2
Von Hippel-Lindau syndrome

40
Q

What is a symptom of Neurofibromatosis type 1 ?

A

Café-au-lait patches

41
Q

What can Neurofibromatosis type 2 cause?

A

Neurotumours

42
Q

What kind of neurotumors can Neurofibromatosis type 2 cause?

A 
Meningioma 
Acoustic neuroma (often bilateral) 
Glioma (including optic nerve glioma) 
Plexiform neuroma (massive cutaneous overgrowth) 
Cutaneous neurofibroma

Neurology (30 decks)

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