muscle and nerve diseases

Question 1

what are some common symptoms associated with muscle disease?

Answer 1

weakness of skeletal muscle
short of breath
cardiomyopathy
myoglobinnuria
cramp/pain

Question 2

what are some common signs of muscular disease?

Answer 2

wasting/hypertrophy
reduced tone or reflexes
motor weakness but not sensory

Question 3

what investigations are important in suspected muscle disease?

Answer 3

creatine kinase
electromyography
muscle biopsy
genetic testing

Question 4

what are 5 different types of muscular dystrophy?

Answer 4

duchennes
beckers
facioscapulohumeral
myotonic dystrophy
limb girdle

Question 5

what are channelopathies?

Answer 5

disorders of calcium, sodium and chlorine channels

Question 6

whar are 4 different kinds of channelopathies?

Answer 6

familial hypokalemic periodic paralysis
hyperkalemic periodic paralysis
paramyotonia congenita
myotonia congenita

Question 7

what processes are responsible for metabolic muscle disease?

Answer 7

disorders of carbohydrate metabolism
disorders of lipid metabolism
mitochondrial myopathies/cytopathies

Question 8

what are 2 inflammatory muscle diseases?

Answer 8

polymyositis

dermatomyositis

Question 9

what are some symptoms of IMD?

Answer 9

painful weak muscles

DM has a characteristic rash

Question 10

what investigations are used to diagnose IMD?

Answer 10

creatine kinase increase
EMG - inflammation and myopathic
muscle biopsy

Question 11

what would be found on a muscle biopsy of a patient who has polymyositis?

Answer 11

CD8 cells

Question 12

what would be found on a muscle biopsy of a patient who has dermatomyositis?

Answer 12

B cells and CD4 cells

Question 13

what is the treatment for inflammatory muscle disease?

Answer 13

immunosuppression

Question 14

what is the clinical presentation of myasthenia gravis?

Answer 14

fatiguable weakness
ptosis
weakness after chewing and talking
diplopia
limb weakness
SOB

Question 15

what investigations are performed to help diagnose myasthenia gravis?

Answer 15

acetylcholine receptor (AChR) antibody test
anti MuSK antibody test
reptitive stimulation
EMG
tensilon test
CT chest

Question 16

how is myasthenia gravis treated?

Answer 16

acetylcholinesterase inhibitor to relieve symptoms

prednisolone and steroid saving agents for immunosuppression

Question 17

what disorder of the thymus is associated with myasthenia gravis in young patients?

Answer 17

thymic hyperplasia

Question 18

what disorder of the thymus is associated with older myasthenia gravis patients?

Answer 18

malignant thymoma

Question 19

when would a thymectomy be an appropriate treatment option?

Answer 19

females younger than 40

malignant thymoma

Question 20

what are some diseases of spinal nerve roots?

Answer 20

degenerative spine disease
inflammation
infiltration

Question 21

what are some lesions of individual peripheral nerves?

Answer 21

compressive/entrapment neuropathy

vasculitic (mononeuritis multiplex)

Question 22

what sensations can generalised peripheral neuropathy affect?

Answer 22

motor, sensory or both

Question 23

what are some metabolic causes of generalised peripheral neuropathy?

Answer 23

alcohol
b12 deficiency
DM

Question 24

what are some toxic causes of generalised peripheral neuropathy?

Answer 24

drugs

Question 25

what are some infectious causes of generalised peripheral neuropathy?

Answer 25

lymes disease HIV leprosy

Question 26

what are some malignant causes of generalised peripheral neuropathy?

Answer 26

paraneoplastic syndrome

Question 27

what are some inflammatory demyelinating causes of generalised peripheral neuropathy?

Answer 27

``` acute = guillain barre syndrome chronic = CIDP ```

Question 28

what are some signs of nerve root disease?

Answer 28

myotomal wasting and weakness reflex change dermatomal sensory change

Question 29

what are some signs of individual nerve disease?

Answer 29

wasting and weakness of innervated muscle | specific sensory change

Question 30

what are some symptoms of generalised peripheral neuropathy?

Answer 30

sensory AND motor symptoms starting distally and moving proximally

Question 31

what investigations are important in diagnosing nerve diseases?

Answer 31

``` blood tests genetic analysis Lumbar puncture nerve biopsy NCS (nerve conduction studies) ```

Question 32

what are some signs of motor neuron disease?

Answer 32

LMN = muscle fasciculations, wasting, weakness UMN = increased tone, brisk reflexes no sensory involvement

Question 33

how is MND diagnosed?

Answer 33

unique combination of UMN and LMN signs | EMG