Flashcards in Motor neurone disease Deck (14):
What is motor neurone disease?
untreatable and rapidly progressive neurodegenerative condition
-progressive motor poblems with both UMN and LMN features
-no sensory problems
-focal onset and continuous spread
What is the average survival time for motor neurone disease?
What is the genetic inheritance of motor neurone disorder
When does MND usually present and what clinical symptoms and signs should make you think of motor neuron disease?
It rarely presents before 40 years
-the absence of sensory signs/symptoms*
-the mixture of lower motor neurone and upper motor neurone signs
-wasting of the small hand muscles/tibialis anterior is common
-doesn't affect external ocular muscles
-no cerebellar signs
-abdominal reflexes are usually preserved and sphincter dysfunction if present is a late feature
What are the five different types of MDN?
amyotrophic lateral sclerosis,
primary lateral sclerosis,
progressive (or spinal) muscular atrophy,
progressive bulbar palsy
Amyotrophic lateral sclerosis - is this common? what signs are seen? In familial cases where is the gene responsible located?
typically LMN signs in arms and UMN signs in legs
in familial cases the gene responsible lies on chromosome 21 and codes for superoxide dismutase
Primary lateral sclerosis - what signs are seen?
UMN signs only
-leg weakness and is found to have a relatively pure spastic parapesis
Progressive muscular atrophy:
What signs are seen?
Which muscles are affected?
LMN signs only
affects distal muscles before proximal
carries best prognosis
Progressive bulbar palsy
-what is a bulbar palsy?
-what are the signs/symptoms?
-F:M? what age
bulbar palsy is a lower motor neuron lesion of cranial nerve IX, X and XII
-what is a pseudobulbar palsy?
pseudobulbar palsy = upper motor neurone lesion of cranial nerve IX, X and XII
-increased gag/jaw jerk reflex
- palatal movement is absent
-spastic speech (monotonous/slurred/high pitch = donald duck)
How is MND diagnosed?
clinically - diagnosis of exclusion (after ix have ruled out other DDx)
-UMN and LMN signs in bulbar region + 2 or more spinal regions
-OR UMN and LMN signs in 3 spinal regions
-UMN and LMN in 2 or more spinal regions with some UMN signs rostral to LMN
-UMN and LMN in 1 spinal region
-LMN signs and 2 or more spinal regions
-LMN signs are found rostral to UMN signs
What UMN signs exist?
-extensor (up going) plantar reflexes - babinski sign
What LMN signs exist?