Motor deficits: Part 2 (MS, MND) Flashcards
What is MND (motor neuron disease)? Mean onset? Who does it affect more? Prognosis?
Refers to a group of progressive neurological disorders that destroy motor neurons -the cells that control voluntary muscle activity.
E.g. speaking, walking, breathing, and swallowing.
Mean onset 50-60years
Male
Poor prognosis
Examples of motor neurone disease?
ALS (amyotrophic lateral sclerosis)
Progressive bulbar palsy
Primary lateral sclerosis (PLS) (VERY RARE)
Progressive spinal muscular atrophy (VERY RARE)
What is ALS (amyotrophic lateral sclerosis)?
Progressive neurodegenerative disease that attacks BOTH upper and lower motor neurons.
Results in muscle weakness and atrophy.
Presentation of ALS (amyotrophic lateral sclerosis)?
- Fasciculations / Twitching
- Stiffness
- Weight loss / muscle atrophy
- Worsening fatigue
- Muscle weakness in facial and limb muscles
- Atrophy
- Hyper-reflexia
- Drooling
- Emotionally labile
NO SENSORY SYMPTOMS or LOSS OF BOWEL/BLADDER CONTROL.
NO PAIN or DIFFICULTIES WITH EXTRA-OCULAR MOVEMENTS.
Treatment of ALS (amyotrophic lateral sclerosis)?
Riluzole
Symptomatic tx
Speech language therapy
Psychological/Social work care
What is Primary lateral sclerosis (PLS)?
Has upper motor neurone damage ONLY
Deficits ONLY in the limbs
What is Progressive spinal muscular atrophy?
Has lower motor neurone damage ONLY
More often familial than other forms of MND
What is Progressive bulbar palsy?
Pt primarily has weakness of muscles innervated by cranial nerves.
Causes of MND (motor neuron disease)?
misfolding of the TDP-43 protein
inherited
mutation in the SOD-1 gene
Presentation of MND (motor neuron disease)?
Affects both upper and lower limbs.
Upper motor neuron signs include:
- Spasticity
- Hyperreflexia
- Upgoing plantars
Lower motor neuron signs include:
- Fasciculations
- Muscle atrophy
Eye and sphincter muscles are generally spared until late in the disease course.
Compare both upper and lower motor neuron signs?
BOTH upper and lower neuron lesion have:
- weakness
UPPER:
- ABSENT or MILD MUSCLE ATROPHY
- no fasciculations
- hyperreflexia
- increased tone
LOWER:
- muscle atrophy
- fasciculations
- reduced/delayed reflexes
- reduced tone
IVx of MND (motor neuron disease)?
TFTs (exclude thyrotoxicosis syndrome)
Protein electrophoresis (rule out paraproteinaemias)
MRI of brain and spinal cord (assess lesions or cervical spondylopathy)
EMG and nerve conduction studies
Management of MND (motor neuron disease)?
Supportive tx
Riluzole
Analgesia
Treat spasticity and contractures with baclofen and botox injections
Anticholinergics -manage drooling
Supporting feeding via an NG or PEG tube as bulbar disease progresses.
Discuss advanced care planning early in disease progression.
What is multiple sclerosis? Who does it affect more? Mean onset?
A chronic, inflammatory, autoimmune disease of the CNS.
Characterised by the demyelination and axonal loss of neurons.
Females are more affected.
Mean onset age 30 years
Causes of multiple sclerosis?
potential viral pathogens
CD4-mediated destruction of oligodendroglial cells and a humoral response to myelin binding protein are key features of the disease.
Presentation of multiple sclerosis?
Symptoms depend on the affected area of the brain or spinal cord.
Patchy paraesthesia
Optic neuritis -loss of central vision and painful eye movements
Internuclear ophthalmoplegia
Subacute cerebellar ataxia
Spastic paraparesis (Lhermitte’s sign)
- Balance difficulties
- Urinary urgency, frequency, incontinence
- Constipation
- Sexual dysfunction
- Cognitive loss
- Debilitating fatigue
How is multiple sclerosis classified?
Relapsing-remitting (pts return normal or near-normal function between attacks)
Secondary progressive (relapsing-remitting course that becomes steadily progressive)
Primary progressive (progressive from the onset, symptoms generally do not remit)
Transverse myelitis (demyelinating lesions
of the spinal cord which can associated be with MS
or independent of MS)
Diagnosis of MS (multiple sclerosis)?
Clinical hx/examination
MRI (periventricular white matter lesions; looks bright white on scan)
Oligoclonal bands in the CSF
Acute management of MS?
glucocorticoids
IV methylprednisolone (every 24 hours for 3 days)
Plasma exchange (if no response to glucocorticoids)
Check bloods and urine dip to rule out intercurrent infection.
Chronic management of MS?
Long-term management of relapsing remitting MS:
- DMT (disease modifying therapies)
- symptomatic therapies
1ST LINE:
- beta-interferon OR glatiramer
New oral agents such as dimethyl fumarate, teriflunomide and fingolimod.
Biologics such as natalizumab and alemtuzumab.
Symptomatic therapies include:
- Physiotherapy
- Baclofen and Botox for spasticity
- Modafinil and exercise therapy for fatigue
- Anticholinergics for bladder dysfunction
- SSRIs for depression
- Sildenafil for erectile dysfunction
- Clonazepam for tremor
