Demyelinating, myopathic and neuromuscular diseases:

Question 1

Myasthenia Gravis- Eti

Answer 1

• Young women- RA, SLE, thyrotox or thymic tumor
• Exacerbated by pregnancy, period
• Coincide infection

Question 2

Myasthenia Gravis- Sx

Answer 2

• Fluctuating weakness
• CN muscles
• Ocular: diplopia, ptosis,
• Difficulty swallowing, chewing
• Resp distress
• Limb weakness
• Normal pupillary response
• No reflex changes

Question 3

Myasthenia Gravis- Dx

Answer 3

• Elevated acetylcholine abs

- Electrophys indicating neurmusc disturbance

Question 4

Myasthenia Gravis- Tx

Answer 4

• Anticholinesterase- Neostigmine or pyridostimine

Question 5

Multiple sclerosis- Eti

Answer 5

• Onset in 20-50
• Women- 1st degree relative
• 1:100 white population- Canada, US, Europe
• Latitude- further from equator- Vit D, pathogen exposure,

Question 6

Multiple sclerosis- Sx

Answer 6

• Initial: weak, numb, tingling, sphincter disturbance- disappear after days to weeks
• Relapse: increased weakness, spasticity, ataxia, incontinence
• Optic atrophy, nystagmus, dysarthria, pyramidal deficits of limbs
• Secondary progressive- steady deterioration

Question 7

Multiple sclerosis- Dx

Answer 7

• Evidence of two or more different regions of central white matter have been affected at different times
• DIssemination in space,
• dissemination in time, > 1 month
• MacDonald criteria
• MRI
• Periventricular, juxtacortical, infratentorial, spinal

Question 8

Multiple sclerosis- Tx

Answer 8

• Disease modifying: Interferons injectable
• Glatiramer acetate
• IV methylprednisolone for acute relapse
• Immunosuppresants
• Vit D

Question 9

ALS- Eti

Answer 9

• Mixed, upper and lower motor neuron disorder
• 30 - 60 years
• Genetic, sporadic

Question 10

ALS- Sx

Answer 10

• Limb weakness and muscle wasting, fasiculations
• Cognitive decline, Parkinsonism
• No sensory or spincter disturbance

Question 11

ALS- Dx

Answer 11

• Abnormal resting muscle activity found in cervical, thoracic and lumbosacral spinal cord
• Musc biopsy- denrevation

Question 12

ALS- Tx

Answer 12

Riluzole, reduce presynaptic glutamate

Question 13

Duchenne Musc dystrophy- Eti

Answer 13

• Inherited, X linked recessive

- Onset 1-5 yrs

Question 14

Duchenne Musc dystrophy- Sx

Answer 14

• Pelvic, shoulder girdle, limb then resp musc distribution
• Rapid progression, death 15 yrs
• Retardation
• Skeletal deformities, contractures
• Cardiac involvement

Question 15

Duchenne Musc dystrophy- Dx

Answer 15

• Elevated creatine
• Myopathic weakness
• Histology

Question 16

Duchenne Musc dystrophy- Tx

Answer 16

• Prednisone

- Activity, PT

Question 17

Progressive bulbar palsy- Eti

Answer 17

• Genetic

- Bulbar degeneration

Question 18

Progressive bulbar palsy- Sx

Answer 18

• Primary motor nuclei of cranial nerves
• Drooping palate
• Depressed gag reflex
• Pooling saliva
• weak cough
• Wasted, fasiculaing tongue
• Difficulting swallowing, talking, breathing

Question 19

Progressive bulbar palsy- Dx

Answer 19

• Abn rectal bx
• Histologic changes of denervation, musc wasting
• Normal sensory conduction

Question 20

Progressive bulbar palsy- Tx

Answer 20

• Riluzole, reduction of presynaptic glutamate

- Gastrostomy, tracheostomy

Question 21

Multiple sclerosis- Relapse

Answer 21

• Lasts at least 24 hrs
• Separate > 1 month from pre exacerbation
• Absence of envt, metabolic or infectious processes
• Average 1 per year
• Median time to cane- 15 yrs
• Median wheel chair- 46 yrs
• Mortality is low