Physical disability - neuro and muscular Flashcards
(some on Anki)
What happens in Motor Neurone Disease (MND)? Explain simply
MND:
Degeneration of UMN and LMN
Signs and symptoms of UMN and LMN problems
What’s the most common form of MND?
Amyotrophic Lateral Sclerosis (ALS)
How many people diagnosed with ALS will die (and why) within 5 years following symptom onset?
70% will die within 5 years from symptoms onset of ALS -> due to respiratory muscles failure
Mean survival rate is 3 years
Pathophysiology of ALS
Progressive destruction of UMN and LMN by the mechanisms that will destroy the neurones (e.g. excitotoxicity, excessive intracellular and mitochondrial Ca2+, apoptosis, free radicals)
Investigations in MND/ALS
- MRI -> to exclude other structural lesions
- Electromyography (EMG) -> to look for muscle denervation
- Diagnosis is clinical
Management of ALS
- general (supportive and meds)
- drooling
- dysphagia
- joint pain
- respiratory problems (Mx at home)
- MDT support
- anti-glutamatergic medication -> Riluzole (MoA: Na+ channel blocker -> inhibition of release of glutamate) as glutamate may cause CNS damage *life prolonged by 3 months
- drooling: amitriptyline (anti-depressant), propantheline (anti-muscarinic)
- dysphagia: blend food, NG tube, percutaneous endoscopic gastrostomy
- joint pain: analgesics ladder (NSAIDs then opioids)
- respiratory failure: non-invasive ventilation at home
Complications of ALS
- depression
- frontal-type dementia
- immobility -> DVT. PE, aspiration pneumonia
- dysphagia -> malnutrition, weight loss
- respiratory failure -> weakness of respiratory muscles/ aspiration pneumonia
- What’s cerebral palsy?
- When does it need to appear to be diagnosed as CP
- What’s its nature? (progressive or non-progressive)?
- Persistent motor disorder
- appearing before age 3 yr
- nonprogressive lesion of the brain
Possible outcomes of cerebral palsy
- sensory abnormalities
- cognitive deficits
- epilepsy
- motor development may be impaired
*IQ is mostly nearly normal
Types of Cerebral Palsy and what happens in them
Possible causes of CP
Multiple - Can be divided into 3 groups
- Antenatal - maternal infection, intraventricular haemorrhage
- Perinatal – prematurity, hypoxia, birth trauma, neonatal jaundice (kernicterus)
- Postnatal – meningitis, encephalitis, CNS trauma, hypoglycaemia
General features (early symptoms) of CP
- Failure to achieve normal developmental milestones
- ‘floppy baby’
- Feeding difficulties
- Asymmetric hand movement
- hand preference before 12 months
Features of spastic CP
Spastic cerebral palsy (70%)
- UMN lesion signs -> Brief reflexes, Spasticity, Extensor plantar response Flexed arm, possibly extended leg, abnormal gait, trunk, the head may be affected (depends on type e.g. hemipelagic, diplegic, quadriplegic)
- Associated with seizures and reduced intellectual ability
Features of Ataxic Hypotonic CP
Ataxic Hypotonic Cerebral Palsy (10%)
- Typically symmetrical signs
- Hypotonia
- poor balance
- delayed movements
- Uncoordinated movements/tremor
- May be cerebellar lesion
Features of Dyskinetic CP
Dyskinetic (Choreoathetoid) Cerebral Palsy (20%)
- Fluctuating muscle tone
- Gives rise to involuntary movements
- Basal ganglia/extrapyramidal tract damage
- Usually affects all four limbs
- Especially apparent when stressed
- Chorea- irregular, sudden movements
- Athetosis (distal limbs) - simultaneous contraction then relaxation of opposing muscle groups
Diagnosis of CP
- Mainly clinical diagnosis
- Usually between 6m and 2y of age
*Might be suspected earlier in high risk situations
- Brain imaging may be used