muscle and nerve diseases Flashcards
what are some common symptoms associated with muscle disease?
weakness of skeletal muscle short of breath cardiomyopathy myoglobinnuria cramp/pain
what are some common signs of muscular disease?
wasting/hypertrophy
reduced tone or reflexes
motor weakness but not sensory
what investigations are important in suspected muscle disease?
creatine kinase
electromyography
muscle biopsy
genetic testing
what are 5 different types of muscular dystrophy?
duchennes beckers facioscapulohumeral myotonic dystrophy limb girdle
what are channelopathies?
disorders of calcium, sodium and chlorine channels
whar are 4 different kinds of channelopathies?
familial hypokalemic periodic paralysis
hyperkalemic periodic paralysis
paramyotonia congenita
myotonia congenita
what processes are responsible for metabolic muscle disease?
disorders of carbohydrate metabolism
disorders of lipid metabolism
mitochondrial myopathies/cytopathies
what are 2 inflammatory muscle diseases?
polymyositis
dermatomyositis
what are some symptoms of IMD?
painful weak muscles
DM has a characteristic rash
what investigations are used to diagnose IMD?
creatine kinase increase
EMG - inflammation and myopathic
muscle biopsy
what would be found on a muscle biopsy of a patient who has polymyositis?
CD8 cells
what would be found on a muscle biopsy of a patient who has dermatomyositis?
B cells and CD4 cells
what is the treatment for inflammatory muscle disease?
immunosuppression
what is the clinical presentation of myasthenia gravis?
fatiguable weakness ptosis weakness after chewing and talking diplopia limb weakness SOB
what investigations are performed to help diagnose myasthenia gravis?
acetylcholine receptor (AChR) antibody test anti MuSK antibody test reptitive stimulation EMG tensilon test CT chest
how is myasthenia gravis treated?
acetylcholinesterase inhibitor to relieve symptoms
prednisolone and steroid saving agents for immunosuppression
what disorder of the thymus is associated with myasthenia gravis in young patients?
thymic hyperplasia
what disorder of the thymus is associated with older myasthenia gravis patients?
malignant thymoma
when would a thymectomy be an appropriate treatment option?
females younger than 40
malignant thymoma
what are some diseases of spinal nerve roots?
degenerative spine disease
inflammation
infiltration
what are some lesions of individual peripheral nerves?
compressive/entrapment neuropathy
vasculitic (mononeuritis multiplex)
what sensations can generalised peripheral neuropathy affect?
motor, sensory or both
what are some metabolic causes of generalised peripheral neuropathy?
alcohol
b12 deficiency
DM
what are some toxic causes of generalised peripheral neuropathy?
drugs
what are some infectious causes of generalised peripheral neuropathy?
lymes disease
HIV
leprosy
what are some malignant causes of generalised peripheral neuropathy?
paraneoplastic syndrome
what are some inflammatory demyelinating causes of generalised peripheral neuropathy?
acute = guillain barre syndrome chronic = CIDP
what are some signs of nerve root disease?
myotomal wasting and weakness
reflex change
dermatomal sensory change
what are some signs of individual nerve disease?
wasting and weakness of innervated muscle
specific sensory change
what are some symptoms of generalised peripheral neuropathy?
sensory AND motor symptoms starting distally and moving proximally
what investigations are important in diagnosing nerve diseases?
blood tests genetic analysis Lumbar puncture nerve biopsy NCS (nerve conduction studies)
what are some signs of motor neuron disease?
LMN = muscle fasciculations, wasting, weakness
UMN = increased tone, brisk reflexes
no sensory involvement
how is MND diagnosed?
unique combination of UMN and LMN signs
EMG
