This document discusses amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig's disease. It is a progressive neurodegenerative disease that affects motor neurons in the brain and spinal cord, resulting in muscle weakness, paralysis, and eventually death, usually within 3 to 5 years of diagnosis. The cause is generally unknown but may involve genetic mutations, free radicals, glutamate toxicity, or an autoimmune response. Symptoms start with muscle weakness and progress to include difficulty speaking, swallowing, and breathing. There is no cure and treatment aims to manage symptoms and improve quality of life.

2.  A-myo-trophic comes from Greek
› A = no/negative
› Myo = muscle
› Trophic = nourishment
› No Muscle Nourishment
 Lateral = defines location of the nerve cells that signal and
control the muscles
 Sclerosis = scarring and hardening in the degenerating
region

3.  Also known as:
› Motor neuron disease
› Charcot’s disease
› Lou Gehrig’s disease

4.  A progressive neurodegenerative disease.
 Cells of the brain and spinal cord are lost.
 Affects mostly motor neurons
› The cells that control needed voluntary muscle
activity such as:
 Speaking
 Skeletal muscle movement
 Breathing
 Swallowing

5.  When the motor neurons eventually die, the ability
of the brain to control muscle movement is lost.
 Causing paralysis of essential body systems.
 When muscles no longer receive the messages
from the motor neurons that they require to
function, the muscles begin to atrophy.

6.  According to the ALS CARE Database
› 60% of the people with ALS in the database are men
› 93% of patients in the database are caucasian
 Normally occurs in people between 40 to 70
years of age
› Also can occur in people in their 20’s and 30’s

7.  Copper/zinc Superoxide dismutase 1
(SOD1)
 Heavy neurofilament subunit (NEFH)
 Peripherin (PRPH)
 Dynactin (DCTN1)

8.  Due to a mutation in SOD1, the superoxide
radicals are not neutralized
 The radicals attack the motor neurons and
degrade them
 Muscles are not able to be stimulated

9.  Free radicals
› Inherited form of ALS often involves a mutation in a
gene responsible for producing a strong antioxidant
enzyme that protects cells from damage caused by
free radicals — the byproducts of oxygen
metabolism.
 Glutamate
› People who have ALS typically have higher than
normal levels of glutamate, a chemical messenger in
the brain, in their spinal fluid.
› Too much glutamate is known to be toxic to some
nerve cells.

10.  Autoimmune Response
› Immune system begins to attack normal cells
› Scientists have speculated that such antibodies
may trigger the process that results in ALS

11.  Two types of ALS:
› Sporadic – no family history
› Familial – family history/background
 Autosomal dominant
 Autosomal recessive
 X-linked dominant
 90% of the known cases are sporadic

13.  Early symptoms
› Increasing muscle weakness
 Especially in the arms and legs
› Difficulty speaking
› Trouble in swallowing
› Problems with breathing
› Twitching
› Cramping of muscles
 Mostly hands and feet

14.  Late Symptoms
› Extreme muscle atrophy
› Reflexes
 Slow to absent
› Excessive drooling
› Babinski's sign
 Big toe dorsiflexes and the other toes
fan out
› Increase spasticity
› Weight loss
› Choking
› Cardiac arrest due to respiratory arrest usually resulting
in death

16.  S/ S or patterns of symptoms are not the same for each ALS
individual
 Progressive muscle weakness and paralysis are universally
experienced
 Since ALS attacks only motor neurons, the sense of sight,
touch, hearing, taste, and smell are not affected
 Average life expectancy is 3 to 5 years after diagnosis

17.  MRI
 Muscle and nerve biopsy
 Electomyography (EMG)
 Nerve conduction velocity (NCV)
 Blood and urine studies
 Spinal tap
 Even with all this technology ALS is
extremely difficult to diagnose. This is
because many diseases mimic signs of ALS

23.  Progressive cervical extensor weakness:
› Cause the head to fall forward
› Resulting in overstretching of the posterior
musculature and soft tissues
 For mild to moderate cervical weakness a
soft foam collar may be worn during specific
activities
 For moderate to severe weakness, a semi
rigid or rigid collar is prescribed

26.  Shoulder Pain:
› May develop shoulder pain with capsular pattern
› Secondary to spasticity or weakness causing
imbalance that may lead to:
 Impingement
 Overuse of strong muscles
 Muscle strain
 Poor re sting position
 Glenohumeral subluxation secondary to weakness

27.  Breathing and positioning to optimize
ventilation
 Airway clearance techniques may be
necessary when conditions that cause
secretion retention arise

28.  Decrease the stress on remaining function
 Conserve energy
 Minimize local or general muscle fatigue
 The type of ambulatory assistive device
prescribed is dependent on:
› Proximal muscle strength or instability
› Function of the UEs
› The pattern , extent and rate of disease progression
› financial constraints