CNS: Amyotrophic Lateral Sclerosis (ALS)

• ALS stands for Amyotrophic Lateral Sclerosis, also known as Lou Gehrig's Disease.

What is it?

• ALS is a progressive, fatal neurodegenerative disorder with no cure.
• Degeneration and scarring of motor neurons cause gradual paralysis in the spinal cord, brainstem, and cerebral cortex.
• Upper motor neurons extend from the brain to the brainstem and SC synapse with lower motor neurons which send nerve impulses to contract.
• Motor neurons break down and die, leading to muscle weakness, atrophy, and paralysis
• Areas of the brain controlling coordinated movements (cerebellum) and cognition (frontal cortex) are NOT affected.
• Approximately 80% of diagnosed people die within 2-5 years, but some can live 10+ years.

A note on cognitive function

• Between 30% and 50% of people with ALS experience cognitive and/or behavioral difficulties, affecting thinking and personality.
• People with ALS may show inattention, difficulty in speech, facial or reading comprehension, verbal communication difficulties, obsessive or unusual behavior, or apathy/depressive behavior.
• Recognize some symptoms may not be related to biological disease, and it is not advised to associate them with cognitive impairment without professional support
• Specialized tests help detect cognitive changes associated with ALS/FTD.

Etiology

• The cause of ALS is unknown and there is no cure.
• It is multi-factorial based on changes in genes.
• It is 20% more common in men than women.
• Mutations of a gene that produce the SOD1 enzyme, a powerful antioxidant, are linked with ALS.

Etiology - Risk Factors

• Heredity: 5-10% is passed from parent to child, giving children a 50/50 chance of developing the disease.
• Age: risk increases with age, most common between ages 40-60.
• Sex: before age 65, men are slightly more at risk than women, disappearing after age 70.
• Genetics: Studies show similarities in genetic variations in Familial ALS and Sporadic ALS.

Etiology - Environmental Risk Factors

• Smoking is a risk factor, especially for women post menopause.
• Toxin exposure due to lead - no single agent/chemical has been constantly linked with the diesase.
• Military Service: Studies indicate that those who have served may be mire at risk, unsure to the causes: exposure to metals, chemicals, traumatic injuries, intense exertion.

Types of ALS

• Sporadic ALS is the most common form, affecting anyone, most often people between ages 40-60.
• Familial ALS is inherited from parent to child in 5%-10% of cases, with the rest being unknown.
• 30% have a form is Bulbar ALS: early stages motor neutron in corticobulbar area of the brainstem affected, affecting mms of head, face, neck, these become paralyzed first.

Symptoms - Potential early signs

• Potential signs include:
  • Tripping
  • Dropping things
  • Slurred or "thick" speech
  • Difficulties swallowing
  • Weight loss
  • Decrease muscle tone
  • Shortness of breath
  • Increases or decreased reflexes
  • Uncontrollable periods of laughing or crying

Symptoms

• General symptoms include:
  • No sensory deficit
  • Speaking problems
  • Breathing problems
  • Eating problems
  • Anxiety and depression
  • Dementia
• Upper motor neuron symptoms:
  • Tight and stiff muscles (spasticity)
  • Hyperreflexia
  • Positive Babinski's sign
• Lower motor neuron symptoms:
  • Muscle weakness and atrophy
  • Muscle cramps
  • Fleeting twitches of muscles that can be seen under the skin (fasciculations)

Diagnosis

• An EMG tests electrical activity of mms @ rest, to Dx/ rule out
• Nerve conduction study measures nn ability to send impulses
• MRI eliminates spinal cord tumors, herniated discs in neck causing related Symptoms
• Blood and urine tests eliminate other symptoms or other related symptoms
• Muscle biopsy provides differential diagnosis of muscle disease

Medical Treatment

• Treatments are designed to relieve symptoms and improve quality of life.
• Medication:
  • Riluzole, taken orally, increases life expectancy by 3-6 months.
  • Edaravone, intravenous, reduces daily function decline.
  • Drugs control drooling (anticholinergic), spasticity (baclofen, diazepam), constipation, fatigue, pain, depression, sleep issues, uncontrolled outbursts of laughing or crying.

Other Therapies

• Other Therapies may include:
  • Breathing care
  • Physical therapy
  • Occupational therapy
  • Speech therapy
  • Nutritional support
  • Psychological & social support.

Massage Treatment

• Massage can prevent respiratory complications; respiratory failure and/or loss of the ability to eat are final stages of ALS.
• Massage can assist with spasticity by consistent slow stretching to decrease tone for benefit
• Helps cramps with daily stretching
• Helps with decreased mobility
• Hamstring strength correlation with walking, decrease in parallel with the walking ability
• Contractures should be routinely stretched with care to support the joints in the stages that support the joints there is minimal muscle control activity.
• Abdominal muscles help assist increase inspiration when diaphragm and intercostal muscles become weak

Massage Treatment

• Outcomes may include these functions:
  • Maintain function of respiratory muscles.
  • Decrease stiffness / maintain ROM and/or prevent or decrease contractures.
  • Promote relaxation and/or improve mood.
  • Maintain joint health
  • Prevent or reduce edema
  • Prevent deep vein thrombosis
  • Promote muscle function
  • Decrease pain