Physical disability - neuro and muscular Flashcards

(some on Anki)

1
Q

What happens in Motor Neurone Disease (MND)? Explain simply

A

MND:

Degeneration of UMN and LMN

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2
Q

Signs and symptoms of UMN and LMN problems

A
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3
Q

What’s the most common form of MND?

A

Amyotrophic Lateral Sclerosis (ALS)

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4
Q

How many people diagnosed with ALS will die (and why) within 5 years following symptom onset?

A

70% will die within 5 years from symptoms onset of ALS -> due to respiratory muscles failure

Mean survival rate is 3 years

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5
Q

Pathophysiology of ALS

A

Progressive destruction of UMN and LMN by the mechanisms that will destroy the neurones (e.g. excitotoxicity, excessive intracellular and mitochondrial Ca2+, apoptosis, free radicals)

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6
Q

Investigations in MND/ALS

A
  • MRI -> to exclude other structural lesions
  • Electromyography (EMG) -> to look for muscle denervation
  • Diagnosis is clinical
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7
Q

Management of ALS

  • general (supportive and meds)
  • drooling
  • dysphagia
  • joint pain
  • respiratory problems (Mx at home)
A
  • MDT support
  • anti-glutamatergic medication -> Riluzole (MoA: Na+ channel blocker -> inhibition of release of glutamate) as glutamate may cause CNS damage *life prolonged by 3 months
  • drooling: amitriptyline (anti-depressant), propantheline (anti-muscarinic)
  • dysphagia: blend food, NG tube, percutaneous endoscopic gastrostomy
  • joint pain: analgesics ladder (NSAIDs then opioids)
  • respiratory failure: non-invasive ventilation at home
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8
Q

Complications of ALS

A
  • depression
  • frontal-type dementia
  • immobility -> DVT. PE, aspiration pneumonia
  • dysphagia -> malnutrition, weight loss
  • respiratory failure -> weakness of respiratory muscles/ aspiration pneumonia
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9
Q
A
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10
Q
  • What’s cerebral palsy?
  • When does it need to appear to be diagnosed as CP
  • What’s its nature? (progressive or non-progressive)?
A
  • Persistent motor disorder
  • appearing before age 3 yr
  • nonprogressive lesion of the brain
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11
Q

Possible outcomes of cerebral palsy

A
  • sensory abnormalities
  • cognitive deficits
  • epilepsy
  • motor development may be impaired

*IQ is mostly nearly normal

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12
Q

Types of Cerebral Palsy and what happens in them

A
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13
Q

Possible causes of CP

A

Multiple - Can be divided into 3 groups

  • Antenatal - maternal infection, intraventricular haemorrhage
  • Perinatal – prematurity, hypoxia, birth trauma, neonatal jaundice (kernicterus)
  • Postnatal – meningitis, encephalitis, CNS trauma, hypoglycaemia
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14
Q

General features (early symptoms) of CP

A
  • Failure to achieve normal developmental milestones
  • ‘floppy baby’
  • Feeding difficulties
  • Asymmetric hand movement
  • hand preference before 12 months
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15
Q

Features of spastic CP

A

Spastic cerebral palsy (70%)

  • UMN lesion signs -> Brief reflexes, Spasticity, Extensor plantar response Flexed arm, possibly extended leg, abnormal gait, trunk, the head may be affected (depends on type e.g. hemipelagic, diplegic, quadriplegic)
  • Associated with seizures and reduced intellectual ability
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16
Q

Features of Ataxic Hypotonic CP

A

Ataxic Hypotonic Cerebral Palsy (10%)

  • Typically symmetrical signs
  • Hypotonia
  • poor balance
  • delayed movements
  • Uncoordinated movements/tremor
  • May be cerebellar lesion
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17
Q

Features of Dyskinetic CP

A

Dyskinetic (Choreoathetoid) Cerebral Palsy (20%)

  • Fluctuating muscle tone
  • Gives rise to involuntary movements
  • Basal ganglia/extrapyramidal tract damage
  • Usually affects all four limbs
  • Especially apparent when stressed
  • Chorea- irregular, sudden movements
  • Athetosis (distal limbs) - simultaneous contraction then relaxation of opposing muscle groups
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18
Q

Diagnosis of CP

A
  • Mainly clinical diagnosis
  • Usually between 6m and 2y of age

*Might be suspected earlier in high risk situations

  • Brain imaging may be used
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19
Q

Management of CP

A
  • MDT (Physiotherapy OT Speech therapy Voluntary agencies Social services input)
  • MedicationBaclofen (muscle relaxant = GABA agonist), Botulinum toxin injections (prevents the release of Ach -> flaccid paralysis is caused)
  • Surgery - for contractures
20
Q

Complications of CP

A
  • Contractures GI symptoms: reflux, oropharngeal muscle disorder (affects swallowing and saliva clearance)
  • Pulmonary: aspiration pneumonia and bronchopulmonary dysplasia
  • Learning disability
  • Hearing loss (from hyperbilirubinaemia or exposure to ototoxic drugs)
  • Epilepsy
  • Squints
  • Speech and language difficulties
  • Behavioural disorders
21
Q

Simple pathophysiology of MS

A
  1. Autoimmune attack of T cells on nerve fibre (demyelination)
  2. Scar tissue forms in the place of damaged myelin
  3. # nerve signals along the axons -> wide variety of symptoms
22
Q

Describe type of MS

  • relapsing-remitting
A

Relapsing-remitting

  • symptoms come and go
  • period of good health and then sudden relapse
  • no disease progression in between relapses (however the level of disability will be increasing as it will accumulate after each relapse over the time)
23
Q

Describe type of MS

Primary progressive

Secondary progressive

A

Primary progressive: progression of the disease from the onset is continuous

Secondary progressive: initially will be a relapsing-remitting type but then continuous progression

24
Q

Types of MS

A
25
Q

What pattern of symptoms is needed to make a clinical diagnosis ofMS??

A

Symptoms must be disseminated in time and space = 2 attacks in 2 different locations affected

26
Q

How diagnosis of MS is made?

A
  • the clinical picture of the symptoms
  • MRI
  • electrophysiology (measurement of flow of ions and electric voltage)
27
Q
A

Symptoms of MS

28
Q

What blood tests should be done to exclude other causes than MS?

A
  • FBC
  • CRP/ESR
  • TFTs
  • LFT’s
  • U&Es
  • Calcium
  • Glucose
  • vitamin B12
  • HIV serology
29
Q

MS management:

  • general approach
  • lifestyle
  • notification
A
  • MDT: consultant neurologist, specialist nurse, physio, OT, SALT, psychologicts, social care, continence specialist
  • lifestyle: quit smoking - as it will increase the progression, flu vaccines - but may induce relapse, pregnancy - will cease the relapse but induce it 3-6months following birth
  • notify DVLA

- exercise

30
Q

Symptoms relief (examples) in MS

A
  • supervised exercise programme -> for mobility issues
  • Sildenafil (viagra - increase NO release) -> for erectile dysfunction
  • gabapentin (GABA analogue) or baclofen (GABA agonist -> relax skeletal muscles)-> for spasticity

-

31
Q

Management of acute (relapse) attack of MS

A

0.5 mg oral methylprednisolone for 5 days or IV 1g for 3-5 days (if oral does not work or the attack is severe)

32
Q

Pharmacological management of relapsing-remitting MS

A

Interferon Beta (immunosupressant)

Glatiramer (immunomodulator - to reduce frequency of relapses)

Dimethyl fumarate (anti-inflammatory)

33
Q

Pharmacological management of active relapsing-remitting MS

A

Teriflunomide (immunomodulatory agent)

Alemtuzumab (a monoclonal antibody that binds to CD52 on the surface of lymphocytes and marks them for destruction)

34
Q
A

New York HF criteria

35
Q

Pharmacological treatment of RA

(names and class)

A
  • Methotrexate - antimetabolite - stops growing cells and suppresses immune system
  • Hydroxychloroquine - anti-malaria, but also RA and SLE
  • Sulfasalazine - anti-inflammatory
  • Anti-TNF (e.g. etanercept or infliximab) - monoclonal antibody
36
Q

Methotrexate

mode of action

A

MoA: Inhibits enzymes involved in purine metabolism → accumulation of adenosine, inhibition of T-cell activation and suppression of intracellular adhesion molecule expression by T-cells, selective down-regulation of B-cells, increasing CD95 sensitivity of activated T-cells (death receptor), inhibition of methyltransferase activity

37
Q

Methotrexate

side effects

contraindication

A

Side effects: bone marrow suppression (fbc check if sore throat, fever, symptoms/signs infection), pulmonary fibrosis and pneumonitis, liver toxicity

Contraindication: pregnancy, breast feeding, hepatic impairment, severe renal impairment, bone marrow suppression

38
Q

Monitoring in Methotrexate use

A

baseline then weekly FBCs, u+e, LFTs initially until stable then monthly

39
Q

Hydroxychloroquine

MoA

A

Blocks toll-like receptors on plasmacytoid dendritic cells (innate immune cells that when activated produce high levels of interferon (IFN-α and IFN-β)) -> reducing activation and reducing production of interferon and the inflammatory process

40
Q

Hydroxychloroquine

Side effects

Contraindications

A

Side effects: GI disturbance, headache, skin reactions (rashes, pruritus), retinal damage (stop drug if any vision change), convulsions, blood disorders (inc agranulocytosis)

Contraindications: ocular abnormalities (should be screened before commencing treatment). use with caution in neurological disorders (esp epilepsy), severe GI disorders. May exacerbate psoriasis

41
Q

Hydroxychloroquine

monitoring

A

visual acuity (before treatment and annually during treatment)

42
Q

Sulfasalazine

Side effects

Contraindications

A

Side effects: GI disturbance, lung disorders (eosinophilia, fibrosing alveolitis), renal dysfunction (nephrotic syndrome, interstitial nephritis), blood disorders (agranulocytsis, thrombocytopenia – FBC check if any bruising/bleeding/purpura/sore throat/malaise), hepatitis.

Contraindications: salicylate hypersensitivity

43
Q

Sulfasalazine monitoring

A
  • FBC and LFT (every 2 weeks for 3/12 then every 4 weeks for 3/12 then every 3/12 once stable)
  • U+E monthly for 3/12 then as clinically indicated
44
Q

Anti-TNF

MoA

A

TNF-α is a pro-inflammatory mediator; part of the destructive process that occurs in joints in RA.

Biologics that inhibit the action of TNF-α are used to modify the disease process in RA.

45
Q

Anti- TNF

Side effects

Contraindications

A

Side effects: Hypersensitivity reactions, infections (greatest risk in first 6m), GI disturbance, hepatic impairment, increased risk of malignancy (esp non-melanoma skin cancers), interstitial lung disease

Contraindications: active/latent TB, severe infections, heart failure (moderate/severe), history of malignancy, demyelinating CNS disorders

46
Q

Anti-TNF

monitoring

A
  • FBC, CRP, U+E, LFT every 3-6 months
  • TB screening before treatment, during and 6m after tx if develops any symptoms
  • hepatitis B for those at risk
47
Q
A