Neurological Progressive Disorders

Question 1

What is Motor Neurone Disease?

Answer 1

A clinically and pathologically heterogenous group of neurologic diseases characterised by progressive degeneration of motor neurons. Can be either or both UMN and/or LMN.

Question 2

What are the common types of motor neurone disease?

Answer 2

Amyotropic lateral sclerosis (ALS), Spinal Muscular atrophy (SMA), progressive bulbar palsy and primary lateral sclerosis.

Question 3

What is Amyotrophic lateral sclerosis and what is it known as in the USA?

Answer 3

Amyotrophic - muscle wasting, sclerosis - breakdown of muscle fibre. It is a progressive neurological disease that affects both UMN and LMN. In Australia, there are 2 deaths per day (respiratory muscle complications) and 2 new cases diagnosed per day. It also know in the USA as Lou Gehrig’s disease (after famous baseball player).

Question 4

Does Amyotrophic lateral sclerosis have a cure?

Answer 4

No

Question 5

What causes Amyotrophic lateral sclerosis?

Answer 5

Several factors: genetic, toxicity to glutamate, damage to mitochondria, environmental causes, infections, auto-immune, inflammatory process, smoking.

Question 6

What LMN signs may you see in amyotrophic lateral sclerosis?

Answer 6

Muscle atrophy, hypotonia, hyporeflexia, muscle weakness, fasciculation (muscle twitching), cramps and fatigue.

Question 7

What UMN signs may you see in Amyotrophic lateral sclerosis?

Answer 7

Hypertonia, hyperreflexia, spasticity, muscle weakness, muscle atrophy, bulbar symptoms.

Question 8

What is primary lateral sclerosis or upper motor neuron predominant ALS?

Answer 8

Clinical signs of UMN problems. Slow progression but involves up to all regions. Is diagnosed if there is no LMN signs after 4 weeks.

Question 9

What is progressive muscular atrophy or lower motor neuron predominant ALS?

Answer 9

Clinical signs of LMN problems. Slow progression but can involve all regions. Confirmed if there has been no UMN signs after 4 weeks.

Question 10

What is progressive bulbar palsy and pseudobulbar palsy?

Answer 10

PBP: involves bulbar region and predominantly LMNs.

Pseudobulbar palsy: involves bulbar region and predominantly UMNs.

Question 11

What is the bulbar region?

Answer 11

Consists of the cerebellum, medulla oblangatta and pons. Bulbar palsy affects CN’s 9, 10, 11, 12. (glossopharyngeal, vagus, accessory, hypoglossal). Therefore, loss of taste to posterior 1/3 of tongue and troubles swallowing. Parasympathetic sensory and motor issues. Weakness of sternocleidomastoid and trapezius. Tongue motor loss.

Question 12

What are the stages of amyotrophic lateral sclerosis?

Answer 12

1-5. Mod (functional gait, ADLs and speech), mod, severe (increased dependency in ADLs and transfers, dysphagia and/or dysphasia), severe (complete loos of function in 2 areas + mod-severe deficit in 3rd area), death (life expectancy 2-5 years).

Question 13

What are the characteristics of Spinal/progressive Muscular Atrophy?

Answer 13

Muscle weakness and wasting, loss of weight and muscle twitching (LMN impacts).

Question 14

How is Spinal/Progressive Muscular Atrophy classified?

Answer 14

By age of onset and clinical onset. Type 4 is onset at 30-70 years old.

Question 15

What are the risk factors for Spinal/Progressive Muscular Atrophy?

Answer 15

Exposure to chemicals: agrotoxics, solvents, mercury, lead. Farm work. Electrical shock. Strenuous physical activity.

Question 16

What clinical signs are seen in bulbar palsy?

Answer 16

Dysphagia, dysphonia (due to physical disorder of tongue, mouth, throat or vocal cords), fasciculations and atrophy of the tongue.

Question 17

What is Guillian-Barre Syndrome?

Answer 17

A group of demylinating inflammatory poly radiculo-neuropathies (radiculo: spinal root, neuro: peripheral nerve). 70% of patients report illness within 6 weeks of signs of GBS. Process: molecular mimicry - immune response detects flu pathogen, mistakes myelin cells as pathogen = destruction of myelin sheath and schwann cells.

Question 18

What are the 2 main type of GBS?

Answer 18

1) AMAN: Acute Motor Axonal Neuropathy (affects alpha motor neuron/axon at the spinal root).
2) AIDP: Acute Inflammatory Demyelinating Polyneuropathy (affects the myelin sheath and schwann cells)

Question 19

Is GBS permanent?

Answer 19

No, can last for 2-4 weeks before re-myelination occurs.

Question 20

What are the clinical signs of GBS?

Answer 20

First signs: weakness in legs, then typically ascends up the body (can affect cranial nerves).
Sensory symptoms (abnormal sensation, reflex loss) present in 50-70% of pts.
Continued process = respiratory musculature affected = respiratory failure = ICU.
Autonomic nerves can be affected = bowel and bladder and cardiac system.

Question 21

In GBS pts, what are some important factors to remember during rehab?

Answer 21

Bladder/bowel issues and cardiac issues, so take to toilet before rehab and monitor BP and HR.

Question 22

What is the pathophysiology of muscle disorders?

Answer 22

1) Loss of structural proteins in the muscle
2) Defect of production of enzymes
3) Defect of sarcolemma’s repairing mechanism

Question 23

What are the four most common muscle disorders?

Answer 23

1) Duchenne Dystrophy
2) Fascioscapulohumeral Dystrophy
3) Limb Girdle Dystrophy
4) Myasthenia Gravis

Question 24

List facts and common signs of Duchenne Dystrophy.

Answer 24

Facts: almost all affected are male, onset is around 2-5 years of age. Rapidly progressive. Death usually before 25 years (cardiac/respiratory issues).
Signs: hip girdle weakness followed by shoulder girdle weakness. Weaknesses start from proximal to distal.
Waddling gait. Gower’s sign (getting up from the ground). Weakness in abdominals, hip and knee extensors. Becker form. Loss of gait at 10-12 years.

Question 25

List facts and common signs of Facioscapulohumeral dystrophy.

Answer 25

Facts: Both sexes. Onset in adolescence. Mild and slow progression. No cardiac issues. Signs: Wasting of facial, pectoral and shoulder girdle muscles. Normal longevity possible. Winged scapulas. Weakness in trapezius. Hyperlordosis (weak abdominals). Deltoids preserved. Asymmetric involvement.

Question 26

List facts and common signs of Limb Girdle Dystrophy.

Answer 26

Facts: both sexes. Onset at adolescence or adulthood. Mild progression. Cardiac impairments. Signs: affects either shoulder (traps, SA, lats, rhomboid and pecs) or hip girdle (glut max, IP and quads).

Question 27

What is Myasthenia Gravis?

Answer 27

A muscle disorder (skeletal muscle weakness) caused by an autoimmune disease

Question 28

What are the characteristics of Myasthenia Gravis?

Answer 28

Rapid fatiguability and loss of strength during periods of activity, improving after rest. Facts: can onset when adult, transient neonatal or viral onset autoimmune response.

Question 29

What is the pathophysiology behind Myasthenia Gravis?

Answer 29

Antibodies block, alter or destroy AcH receptors at the NMJ = impaired muscle contraction. Note: Snape analogy Treated with drugs - can lead normal lives (3% mortality rate)

Question 30

What are the signs and symptoms of Myasthenia Gravis?

Answer 30

Fatigue, exhaustion, muscle atrophy, eyes, face, lips, tongue, throat, neck, limbs. Unstable/waddling gait, eye droop, inability to open one eye, difficulties chewing, swallowing, laughing and speech. Blank expressionless face. SoB. Ventilator dependency. Myasthenic or cholinergic crisis (excess AcH at NMJ = bronchospasms. Progression: ocular >>> facial >>> bulbar >>> trunk mms >>> limb mms.

Question 31

At what time period do you see the maximum severity of symptoms in Myasthenia Gravis?

Answer 31

Within 3 years before stabilising or improving. Prenatal symptoms usually subside at 2-3 months. >40 years has worse Dx.