neuromuscular bits + chronic fatigue Flashcards
Guillain-Barre syndrome
immune-mediated demylination of the peripheral nervous system often triggered by an infection (campylobacter jejuni)
Guillain-Barre presentation
initial = back/leg pain
progressive, symmetrical weakness of all the limbs
- weakness is classically ascending (legs first)
- reflexes reduced / absent
- few sensory signs (distal paraesthesia)
extra systemic features seen in Guillain-Barre
hx of gastro
resp muscle weakness
cranial nerve involvement
- diplopia
- bilateral facial nerve palsy
- oroppharyngeal weakness
autonomic involvement
- urinary retention
- diarrhoea
sometimes - papilloedema, 2nd to reduced CSF absorption
Guillain-Barre investigations
lumbar puncture
- rise in protein with a normal white blood cell count
nerve conduction studies
- decreased motor nerve conduction velocity (due to demyelination)
inheritance pattern of Becker muscular dystrophy
X-linked recessive dystrophinopathy
(thought of as a “less severe” version of Duchennes)
what genetic changes causes beckers
mutation in gene encoding dystrophine (Xp21)
Duchennes = frameshift, one or both binding sites lost (more severe)
Beckers = non-frameshift insertion, both binding sites preserved (milder)
features of Beckers muscular dystrophy
develops after age of 10
intellectual impairment much less common than in Duchennes
Duchenne mucular dystrophy inheritance pattern
X-linked recessive
- in dystrophin genes
features of duchennes
progressive proximal muscle weaknesss from 5 years
- calf psudohypertrophy
- Gower’s sign - uses arms to stand up from a squatted position
- 30% have an intellectual impairment
management of guillain barre
1st line = IV immunoglobulins
2nd = plasmapheresis
supportive care
VTE prophylaxis
is resp failure - ICU, intubation
(takes long time to recover, lasting affects)
Duchennes investigations (definitive diagnosis)
raised creatinine kinase
genetic testing = definitive diagnosis
prognosis of Duchennes
most kids cant walk by 12yrs
typically live till 25-30
what cardiac condition is duchennes assoc with
dilated cardiomyopathy
diagnosis of chronic fatigue syndrome
at least 3 months of disabling fatigue affecting mental + physical function more than 50% of the time
(in absence of other disease which may explain symptoms)
psychiatic history impact on chronic fatigue
NO
not been shown to be a risk factor
chronic fatigue investigations
screening blood tests to exclude other pathology
e.g. FBC, U&E, LFT, glucose, TFT, ESR, CRP, calcium, CK, ferritin, coeliac screening and also urinalysis
management of chronic fatigue syndrome
refer to CFS specialist
CBT - supportive
CFS has better prognosis in kids
