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. In these mutations, a malfunction in the Cu-Zn superoxide dismutase type 1 gene (SOD 1) responsible for converting superoxide anions into hydrogen peroxide (Gordon, 2011).
Causes of the disease
This figure illustrates the final categorization of the cohort of incident ALS patients (n=160) using the cognitive domain-based categorization. Percentages were rounded to nearest whole per cent.ALS, amyotrophic lateral sclerosis; ALS-FTD, patients with ALS who meet the criteria for the frontotemporal dementia.
What is ALS
Amyotrophic Lateral Sclerosis (ALS)
• Affects voluntary muscle control by attacking
• The progressive degeneration of the motor neurons
in ALS eventually leads to their death
• Due to the death of motor neurons, the brain can
no longer communicate with muscles in the body
• In time, muscles weaken and atrophy leading to the
patient becoming paralyzed
• Disease becomes fatal as the muscles used for
respiration are affected.
Born June 19, 1903
Died June 2, 1941
• Glutamate toxicity is one possible cause for ALS
• Glutamate necessary for neural transmission
• Glutamate reabsorption facilitated by cell membrane protein
• People with ALS lack this protein
• Excess glutamate toxic to motor neurons
• Cu-Zn superoxide dismutase type 1 gene (SOD 1) is responsible
for converting superoxide anions into Hydrogen Peroxide
• Mutation in SOD 1 gene prevents this conversion
Mutant SOD 1 genes become toxic to
motor neurons due to an increase in
ALS causes a breakdown in the motor neurons,
Or pathways between the brain and spinal
Cord and the muscles of the body
Who Gets ALS?
• 5,600 people in the U.S. are diagnosed with ALS each year.
(That's 15 new cases a day.)
• Approximately 30, 000 people in the U.S. have ALS
• According to an ALS association database: 60% of
those diagnosed with the disease are men and 93%
• Most people who develop the disease are between the
ages of 40 and 70
• ALS is 20% more common in men than women
Categorization of cognitive impairment among patients with ALS
• Muscle weakness in one or more of the
following: hands, arms, legs or the muscles
• Difficulty swallowing or breathing
• Twitching (fasciculation) and cramping of
muscles, especially those in the hands and
• Impairment of the use of the arms and legs
• “Thick speech" and difficulty in projecting
• In more advanced stages, shortness of
breath, severe problems with inspiration and
Symptoms of ALS
symptoms of ALS:
There is no cure for ALS
And the available treatments are
Only moderately effective
Wednesday, Susanne and I
performed a portable chest exam on
a patient with Parkinson’s disease,
A close cousin to ALS
“The length of the metacarpal bones in the palm of the hand — not the wrist or
finger bones but the bones between them — depends on the amount of
testosterone in the body during development. ‘If you're exposed to a lot of
testosterone in utero, your ring finger is long compared to the index finger, and
it's longer in men than in women.’( Anderson, 2011)"