Neurology disease Flashcards
Symptoms of muscle disease?
weakness of skeletal muscle, SOB, poor swallow, cardiomyopathy, cramp, pain, stiffness, myoglobinuria
Signs of muscle disease?
wasting/ hypertrophy, normal or reduced tone and reflexes, motor weakness (nOT sensory)
What are the congenital genetic classes of muscle disease?
structural- muscular dystrophies
Contractile- congenital myopathies
Coupling- channelopathies
Energy- enzymes/ mitochondria
What are the acquired classes of muscle disease?
metabolic, endocrine (thyroid, adrenal, vit D), inflammatory muscle disease, iatrogenic: medication (steroids/statins)
Examples of muscular dystrophies?
Duchenne’s MD, Becker’s MD, facioscapulohumeral MD, myotonic dystrophy, limb-girdle MD
What are channelopathies and give examples?
Disorders of Ca, Na, K and Cl channels,
examples include: familial hypokalemicperiodic paralysis (all Ca, Na, K), hyperkalemic periodic paralysis (Na), paramyotonia congenita (Na), myotonia congenita (Cl)
Examples of metabolic muscle diseases?
disorders of carbohydrate metabolism (glycogenoses), disorders of lipid metabolism, mitochondrial myopathies/ cytopathies
Examples of inflammatory muscle disease?
polymyositis, dermatomyositis
Investigations used for inflammatory muscle disease?
high CK, EMG (inflammation and myopathic), biopsy (polymyositis: CD8 cells, dermatomyositis: humeral-mediated, B cells and CD4 cells)
How do you treat inflammatory muscle diseases?
immunosuppresion
What is myasthenia gravis a disease of anf how does it present?
Myasthenia Gravis is a disease of the NMJ, and symptoms include: fatiguable weakness of limbs, muscles of mastication, ptosis, SOB and diplopia
What investigations would you use for Myasthenia gravis?
AChR ab, anti MuSK ab, neurophysiology (repetitive stimulation, jitter), CT chest
How would you treat myasthenia gravis?
symptomatic: acetylcholinesterase inhibitor (pyridostigmine), immunosuppresion (prednisolone, steroid saving agent (eg. azathioprine), immunoglobin/ plasma exchange, thymectomy
What does the peripheral nerve consist of?
sensory axons (small fibres for pain and temp and large fibres for joint position sense and vibration), motor axons, autonomic axons and nerve sheath (myelin)
Causes of generalised peripheral neuropathy?
Hereditary
Infectious (lyme, HIV, leprosy)
Metabolic (alcohol, diabetes, renal, B12)
Toxic (drugs
Inflammatory demyelinating (acute= Guillain Barre syndrome, chronic= chronic inflammatory demyelinating polyneuropathy)
Malignacy (paraneoplastic)
HIM TIM
Symptoms of disease of nerve root?
myoromal wasting and weakness, reflex change, dermatomal sensory change
Symptoms of disease of individual nerve?
wasting and weakness of innervated muscle, specific sensory change
Symptoms of disease of generalised peripheral neuropathy?
sensory and motor symptoms, usually starting distally and moving proximally
Investigations for disorders of the peripheral nerve?
blood tests, genetic analysis, nerve conduction studies, lumbar puncture (CSF analysis), nerve biopsy (nb sensory nerve)
What disease is caused from disorder of the anterior horn cell?
Motor neuron disease (amyotrophic lateral sclerosis)
Symptoms of motor neuron disease?
Combination of UMN and LMN signs: muscle fasciculations, wasting, weakness, increased tone, brisk reflexes (no sensory involvement)
Treatment of Motor Neuron disease?
supportive- PEG feed, non-invasive ventilation, physio, OT
Riluzole
Anticipatory/ palliative care
What are the expected signs of cord pathology on upper motor neuron?
no wasting, increased tone, increased reflexes (extensor plantar), pyramidal pattern of weakness
What are the expected signs of root pathology on lower motor neuron?
decreased tone, decreased reflexes (flexor plantar), weakness