Neuro - genetic disease, infections, headaches Flashcards
what is Duchenne Muscular Dystrophy
X-linked recessive disease causing deficiency is dystrophin
what are the symptoms of Duchenne Muscular Dystrophy
delay in motor development = not walking by 18months
muscle weakness at 3-4yrs
toe walking
gower’s sign
what is the investigations of Duchenne Muscular Dystrophy
electromyography (EMG)
muscle biopsy
genetic testing
what is Huntington’s disease
progressive neurodegenerative disorder
what is the cause of Huntington’s disease
autosomal dominant expansion of CAG trinucleotides
what are the symptoms of Huntington’s disease
progressive involuntary movements dementia issues with activities requiring dexterity (including walking) weight loss
what is the investigation for Huntington’s disease
genetic testing
MRI = loss of caudate heads
what is spinal muscular atrophy
progressive loss of anterior horn cells in spinal cord and brain stem nuclei
what is the cause of spinal muscular atrophy
autosomal recessive SMN1 deficiency
what causes alzheimer’s disease
loss of cortical neurones and presence of neurofibrillary tangles and senile plaques
what is a senile plaque
extracellular deposit containing amyloid beta protein
what is encephalitis
inflammation of the brain parenchyma
what are the symptoms of encephalitis
seizures stupor/coma confusion/changed mental state focal/neurological signs behaviour/speech disturbances
what are the investigations of encephalitis
lumbar puncture
EEG
MRI
what is the treatment of encephalitis
pre-emptive IV aciclovir
when should you consider mengio-encephalitis
if the patient has features of encephalitis + headache. fever and neck stiffness
what is meningitis
inflammation of the meninges which are surround the brain and spinal cord
what are the symptoms meningitis of
fever stiff neck altered conscious headache vomiting photophobia non-blanching red rash
what are the investigations of meningitis
lumbar puncture CT blood culture swab rash throat swab
when would you not bother doing a lumbar puncture in suspected meningitis
if you were confident on the clinical diagnosis with a typical rash
when would a lumbar puncture be contraindicated? what would you do instead?
high ICP/ papilloadema
immunocompromised
new onset seizure
altered consciousness
do CT instead
what is the treatment of meningitis? when is it given
given BEFORE lumbar puncture
cefotaxime + dexamethasone IV
what is the treatment of meningitis if over 60
IV cefotaxime + dexamethasone IV + amoxicillin
what is the treatment of meningitis if penicillin allergic
chloramphenicol + dexamethasone IV
what is the contact prophylaxis treatment of meningitis
ciprofloxacin PO
rifampicin PO 12hrly x4
what is aseptic meningitis
non-pyogenic bacterial meningitis
what is the investigation for aseptic meningitis? what would you expect to find?
CSF
low WBC
minimally elevated protein
normal glucose