Motor Neuron Disease Flashcards
How do MND patients present?
Muscle weakness and wasting secondary to motor neuron degeneration
Speech problems
Swallowing problems
Breathing problems
What is the percentage of familial and sporadic cases?
10% familial
90% Sporadic
What is MND?
An untreatable and rapidly progressive neurodegenerative condition
What is the clinical path the disease takes?
Initially a focal onset, followed by continuous spread, eventually resulting in generalised paresis
Which motor neurones does the disease affect?
It can affect upper and/or lower motor neurones without sensory symptoms
What is the site of onset?
10% upper motor neurone
90% lower motor neurone
What is the bulbar variant of MND?
Affects cranial nerves IX to XII
Causing speech and nasal problems, swallowing problems and flaccid tongue
What are the 4 clinical patterns of MND?
Amyotrophic lateral sclerosis
Progressive bulbar palsy
Progressive muscular atrophy
Primary lateral sclerosis
Pathology and features of ALS?
Loss of motor neurons in motor cortex and anterior horn of spinal cord
Weakness with UMN signs and LMN wasting
Pathology and features of PMA
Anterior horn cell lesion i.e. no UMN symptoms, affect distal muscle groups more than proximal
Weakness and wasting
Usually in one limb then spreads
Pathology and features of PLS
Loss of Betz cells in motor cortex
Mainly UMN signs with marked spastic leg weakness and pseudobulbar palsy.
How is MND diagnosed?
No definitive test, more a diagnosis of exclusion.
Largely based on clinical findings
Treatment of MND?
Riluzole (Increase life by 3 months)
Propantheline or amitriptyline for drooling
Dysphagia- blend food, or NG or PEG
Analgesics
Ventilation if required
What is the gene responsible for Familial MND and what does it do
Mutation in free radical scavenging enzyme superoxide dismutase (SOD-1)
