Motor neuron disease Flashcards
what is motor neuron disease?
a group of relentlessly progressive neurodegenarative conditions
what is characteristic of MND?
only upper and or lower motor neurons are affected and there is sparing of the nerves relaying the sensory and autonomic signaling
what is the sign of paralysis in UMN?
spastic
what is the sign of muscle tone in UMN?
hypertonic
what are the signs of the reflexes in UMN?
hyperreflexia (brisk reflex)
do you see a babinski/hoffman signs?
yes
do you see fasiculations in UMn?
no
what is the sign of paralysis in LMN?
flaccid
what is the sign of muscle tone in LMN?
hypotonic
what is the sign of reflexes in LMN?
hyporeflexia or absent reflex
do you see the babinski/hoffman’s sign. in LMN?
no
do you see fasiculation in LMN?
yes
what familial gene mutations have been identified?
protein superoxide dismutase on chromosome 21 but are few and far between
what is associated with the overlap of ALS and frontotemporal dementia??
C9oRF hexanucleotide repeat expansion
what is the peak incidence of MND?
50-75
which gender is more affect by MND?
males
which race of people are more affected?
caucasians
what is the most common form of MND?
ALS
what is the presentation of ALS?
simultaneous upper and lower motor neuron symptoms often asymmetrical involvement of limbs
what are teh late stae symptoms of ALS?
dysarthria, dysphagia, dyspneoa, recurrent aspiration/pneumonia
what is progressive musclar atrophy?
this presents as purely LMN pathology
what is the least common phenotype of MND?
Primary lateral sclerosis
what is primary lateral sclerosis?
presents purely with UMN signs
what is progressive bulbar palsy?
LMN disease affecting CN 9,10 and 12
what Cranial nerves are affected in Progressive bulbar palsy?
9,10,12
what are the symptoms of Progresesive bulbar palsy?
dysphagia, dysarthria, tongue fasciculation and reduced jaw and gag reflex
what are the causes of of Progressive bulbar palsy?
ALS, Guillian-Barre, Myasthenia Gravis
what is pseudobulbar palsy?
UMN disease affect cranial nerves 9,10,12
what cranial nerves are affected by Pseudobulbar palsy?
9,10,12
what are the symptoms of pseudobulbar palsy?
dysphagia, slow sspeech and brisk hae jerk reflex
what are the causes of Pseudobulbar palsy?
ALS, MS, Stroke
what is the mainstay management of MND?
specialist MND servies and supportive care
what is the management for communication needs/
speech and language therapy
what is the management for nutritional needs?
dieticians, parentral feeding
what is the management of respiratory needs?
BiPAP ventilation at night
what is the pharmacological management of MND?
Riluzole
what is the mechanism of action of Riluzole?
blocks glutaminergic neurotransmissionin the CNS
on average how long does Riluzole extend life by?
3 months
what are the complications of MND? (6)
Facial weakness (haggard appearance)
Ptosis, opthalmoplegia and bilateral “Christmas tree-like” cataracts
HOllowing of the temples due to temporalis muscle wasting and atrophy of the jaw muscles
early frontal balding
