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NEUROPATHIES - Coggle Diagram

- - - - prominent radicular involvement
        
        pain (especially back)
        
        onset over 4 weeks
        
        ascending numbness/weakness
        
        loss of reflexes
  - - - demyelination NB F waves
    - - raised protein, no cells
    - - anti-GM1 (most common)
      - anti-GM2 (CMV)
      - anti-GD1a (AMAN)
- - - - proximal and distal weakness
        
        demyelination causes inconsistent velocity of signal
        
        reduced/absent reflexes (inconsistent velocity due to demyelination)
        
        symmetrical
        
        diagnosis
        
        CSF
        
        raised protein, no cells
        
        nerve conduction studies
        
        demyelination/conduction block
        
        steroids, IV immunoglobulin, plasma exchange, steroid-sparing agents (azathioprine, mycophenolate)
        
        progresses over ≥8 weeks
- - - - painful burning feet
  - - - duloxetine (or gabapentin/pregabalin) for painful neuropathy
  - - - inflammation, oxidative stress, altered gene expression, mitochondrial dysfunction
        
        nerve dysfunction and death i.e. axonal neuropathy
- - - - hands can become involved too if it progresses past knees
- - - - dysfunctional dystrophin protein
        
        rapidly progressive muscle weakness
        
        calf hypertrophy and speech delay
        
        wheelchair dependent by teens
        
        die of respiratory/cardiac complications in 20s
        
        intellectual disabilities (sometimes)
        
        delayed milestones e.g. walking, standing
      - DMD gene
        
        confirm diagnosis with genetic testing
        
        small deletion leads to frameshift and therefore severe disease (Duchenne)
        
        large deletion (multiple of 3) results in partially functional dystrophin = Becker MD (mild)
        
        point mutation (TAA/STOP codon)
    - - anti-inflammatory drugs, genetic therapies (ataluren - read through premature stop, exon skipping), gene replacement, gene editing e.g. CRISPR
  - - - progressive muscle weakness
        
        proximal SMA
        
        distal SMA (distal hereditary motor neuropathy)
    - - SMA5q or survival motor neuron (SMN)-related SMA
        
        causes 95% of SMA
        
        SMN1 encodes SMN protein, which is essential for alpha motor neurons