neuro - motor disorders

Question 1

spinal muscle atrophy

Answer 1

autosomal recessive
degeneration of anterior horn cells
progressive weakness and wasting of skeletal muscles

Question 2

spinal muscle atrophy type 1

Werdnig-Hoffmann disease

Answer 2

presents from birth to 3 months
reduced fetal movements during pregnancy
alert expression
tongue fasciulations
flaccid
no reflexes
intercostal recession
weak cry, poor suck, pooling of secretions

die from respiratory failure about 1 year old

Question 3

Charcot-Marie-Tooth disease

Answer 3

symmetrical, progressive distal muscular wasting

preschool - tripping up, bilateral foot drop no ankle reflexes - then no knee reflexes
motor and sensory nerves are affected - demyelinated then attempt to remyelinate

Question 4

Guillain Barre syndrome

Answer 4

often 2-3 weeks after viral URT infection
ascending, progressive symmetrical weakness over a few days to 2 weeks
loss of relexes

can get HR^/v, arrhythmias, BP ^/v
MRI spine to rule out lesion.

90% better after 2 years
IV immunoglobulin

Question 5

bells palsy

Answer 5

lower motor neuron lesion of 7th nerve

can lead to eye infection as it doesnt close properly, so give lubricating drops/ointment/patch

?compressive lesion at cerebellopontine angle

Question 6

myasthenia gravis

Answer 6

muscle fatiguability which improves with rest of anticholinesterase drugs

less functional receptors available for neuromuscular junction transmission because of antibodies

there is a congenital form

Question 7

Becker muscular dystrophy

Answer 7

like Duchenne’s but not as bad
presents around 11
wheelchair in 20s
die middle/old age

Question 8

friedreich ataxia

Answer 8

autosomal recessive
FXN triplet repeat

worsening ataxia and dysarthria
distal wasting in lower limbs - no relexes
posterior columns affects (vibration and positional sense)

Question 9

ataxia telangiectasia

Answer 9

DNA repair disorder - autosomal recessive
mild motor developmental delay
oculomotor problems
complex eye movement problems - nystagmus etc

telangiectasia on conjuctiva, and neck/shoulder

more likely to get cancer/lung problems

Question 10

Duchenne muscular dystrophy

Answer 10

X linked recessive
no dystrophin protein (which connects cytoskeleton to extracellular matrix - means there is a Ca influx into cell ->myofibril necrosis)

high creatine kinase levels
waddling gait, language delay, Gowers sign (and slow running/climbing stairs) 
big calves (fat and collagen not muscle)

progressive - wheelchair at 10-14
cardiomyopathy, respiratory problems - die in 20s

physiotherapy
CPAP
corticosteroids if mobile
Ataluren - produce small amounts of dystrophin