Saba Parvin Haque

MSc in Neuroscience
from “Sophia College For
https://www.youtube.com/chann
Women”, Mumbai. el/UCAiarMZDNhe1A3Rnpr_WkzA
❑ It is a rare neurological disease that primarily affects the nerve cells (neurons)
responsible for controlling voluntary muscle movement .
❑ More men than women get it.

❑ It is known as motor neuron diseases and caused by gradual deterioration

(degeneration) and death of motor neurons.
❑ The cause of ALS is not known, and scientists do not yet know why ALS strikes some
people and not others. However, scientific evidence suggests that both genetics and
environment play a role in motor neuron degeneration and the development of ALS,
❑ About 25 to 40 percent of all familial cases (sporadic cases) are caused by a defect in
the C9ORF72 gene (which makes a protein that is found in motor neurons and nerve
cells in the brain).
❑ 12 to 20 percent of familial cases result from mutations in the SOD1 gene that is
involved in production of the enzyme copper-zinc superoxide dismutase 1.
❑ There is no cure for ALS and no effective treatment to halt or reverse the progression
of the disease.
❑ Most people with ALS die from respiratory failure, usually within 3 to 5 years from
when the symptoms first appear. However, about 10 percent of people with ALS
survive for 10 or more years.
 FIGURE:
(A) Proximal and symmetrical upper limb
wasting results in an inability to lift arms
against gravity.
(B) The scapular spine, indicating wasting of
supraspinatus and infraspinatus muscles, as
well as substantial loss of deltoid muscle.
(C) Disproportionate wasting of the thenar
muscles combined with the first dorsal
interossei, the so-called “split-hand”, is a
typical feature in ALS.
(D) Substantial wasting of the tongue
muscles in bulbar-onset ALS.
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• Moving, swallowing (called dysphagia), Speaking or forming 51e8-4a4d-acd4-a3e55cab2dac/gr1.jpg

words (dysarthria), and breathing (dyspnea).

Electromyography Nerve Conduction Magnetic Resonance Blood and Muscle

(EMG) Study (NCS) Imaging (MRI) urine tests Biopsy
▪ Dr. Stephen Hawking: A Case Study on Using Technology to Communicate with the World |
AccessComputing. (n.d.). https://www.washington.edu/accesscomputing/dr-stephen-hawking-
case-study-using-technology-communicate-world
▪ Amyotrophic Lateral Sclerosis (ALS) Fact Sheet | National Institute of Neurological Disorders
and Stroke. (n.d.) .https://www.ninds.nih.gov/Disorders/Patient-Caregiver-Education/Fact-
Sheets/Amyotrophic-Lateral-Sclerosis-ALS-Fact-Sheet
▪ Amyotrophic Lateral Sclerosis. (n.d.). ALS | Lou Gehrig’s Disease | MedlinePlus.
https://medlineplus.gov/amyotrophiclateralsclerosis.html