motor neurone disease

Question 1

what is MND

Answer 1

umbrella erm for progressive, degenerative conditions involving selective degeneration of both upper motor neurone and lower motor neurone including cortical, brain step and spinal motor neurones.
motor neurones loose ability to communicate between brain and muscle

Question 2

causes and incidence

Answer 2

incidence of 2 per 100k, peak onset of around 60 year, 5-10% have a family history, suggesting an autosomal dominant inheritance
combination of both genetic and environmental factors
presence of nuclear protein TDP-43 in large inclusion in nerve cell bodies in 90-95% of cases similar to the presence of amyloid protein in dementia

Question 3

what does MND affect

Answer 3

affecting anterior horn cells of spinal cords, cortico-spinal tracts, and motor nuclei of brainstem
resulting in UMN and LMN lesions

Question 4

S and S MND

Answer 4

dysphagia, dysarthria, weakness, spasticity, hyperflexia, clonus, muscle atrophy, fasciculation, dyspnoea

Question 5

classification- UMN

Answer 5

primary lateral sclerosis (PLS), pseudobular palsy

Question 6

classification- LMN

Answer 6

spinal muscular atrophy (SMA), progressive muscular atrophy, progressive bulbar palsy (PBP)

Question 7

classification- UMN and LMN

Answer 7

amyotrophic lateral sclerosis (ALS)

Question 8

MND classification- amyotrophic lateral sclerosis

Answer 8

S and S wasting of the thenar eminence, spasticity and weakness in UL, bulbar signs- dysarthria and dysphagia
UMN and LMN

Question 9

classification- progressive bulbar palsy (25%)

Answer 9

LMN lesion
S and S tongue atrophy and fasciculation, emotional lability
short life expectancy, approx 2 year from diagnosis

Question 10

classification- primary lateral sclerosis

Answer 10

UMN lesion, cortiocosinal

S and S- tetraparesis, pseudobular palsy

Question 11

early signs

Answer 11

slurred speech- due to tongue muscle wasting which may develop into difficulty swallowing some foods, a weak grip due to the thenar muscles and 1st dorsal interossei wasting, proximal and symmetrical UL muscle wasting, muscle cramps and twitches, weakness in ankle or leg, weigh loss, emotional liability

Question 12

diagnosis

Answer 12

differential diagnosis between MND and other conditions (median time to diagnosis=14 months), EMG studies on nerve conduction, muscle biopsy and blood test scan diagnose

Question 13

information at diagnosis

Answer 13

likely needs and concerns, symptoms of MND, types and causes, how MND may progress, treatment options, crisis prevention, research opportunities, advance care planning

Question 14

management in MND

Answer 14

treatment comes in form of symptom management with this condition, progressive condition- focus on prevention of decline, prevention of complications and QOL

Question 15

types of wheelchair

Answer 15

tilt in space, power assist, lightweight, sports, heavy duty

powered- mid wheel drive, rear wheel drive, heavy duty

Question 16

wheelchair accessories

Answer 16

cushion-gel, foam, seat backs, arm rests, tables, brake extendors, wheels-size and tyres, seating system custom made

Question 17

wheelchair measurements and positioning

Answer 17

shoulder/ chest/ knee width, seat to top of head, seat to top of shoulder, seat to axilla, chest depth, seat depth, seat to footplate