Pathophysiology of Diseases- Part 1: Research by

Overview of ALS

haleyele — 2025-09-09 01:20:23 UTC

Also known as Lou Gehrig's disease, it is a progressive nervous system disease that damages nerve cells in the brain and spinal cord, resulting in loss of muscle control. The exact cause is unknown, there is no cure, and the disease is fatal.

Why I chose this disease?

haleyele — 2025-09-09 01:37:28 UTC

I can still remember seeing the first signs and symptoms of this disease from someone dear to my family. Watching the disease slowly progress and take her independence and regular self, was very hard to witness. It left me with many questions and genuine curiosity as to why this happens. This project will help me gain better understanding of ALS from a medical standpoint, as well as from the perspecive eof those living with it

haleyele — 2025-09-09 01:41:42 UTC

Book containing valuable information from etiology to complications of ALS

haleyele — 2025-09-09 01:49:37 UTC

Article explaining the pathophysiology of the disease, including research and studies made to find more information.

haleyele — 2025-09-09 01:52:59 UTC

Explanation of disease mechanisms and the role that The ALS Association plays in furthering research.

haleyele — 2025-09-09 01:56:22 UTC

The goals of ALS research, and explanation of current ALS clinical trials

haleyele — 2025-09-09 02:00:44 UTC

Available medications for ALS patients their effects, mechanisms of action, and side reactions

haleyele — 2025-09-09 02:02:57 UTC

4 medications to treat ALS and their delivery methods

haleyele — 2025-09-09 02:11:57 UTC

Current treatment options, supportive therapy and its importance and effects, gene specific therapies, and stem cells

haleyele — 2025-09-11 21:58:18 UTC

ALS is caused by the degeneration of motor neurons in the motor cortex, spinal cord, and brainstem. When neurons are lost, they are replaced by scar tissue (gliosis) and spinal cord and muscles shrink (atrophy). Special markers of ALS include Bunina bodies in nerve cells as well as abnormal buildup of TDP-43 protein. This leads to muscle weakness.

haleyele — 2025-09-11 22:11:40 UTC

Genetics- (hereditary ALS) children with parents who have ALS have a 50% chance of inheriting the gene

Age- most common between ages 60-mid 80's; greater risk at greater age

Sex- slightly more men than women before the age of 65 develop ALS

Smoking- women who smoke are at higher risk for ALS

Environmental toxin exposure- no one agent has been proven to be associated with ALS, but evidence suggests that lead and other chemicals can be risk factors

Military service- it is not clear why people who serve in the military are at higher risk for developing ALS

haleyele — 2025-09-15 00:18:27 UTC

AlS is developed from a mix of genetic mutation and molecular problems causing damage to motor neurons. When nerve cells (astrocytes) fail to clear glutamate, it builds up and overstimulates the neurons causing excitotoxicity. This leads to an overload of calcium and cell death. Gene mutations like TDP-43 disrupt the way RNA is processed. This increases oxidative stress, causes protein clumps, damages the mitochondria and blocks axonal transport. Inflammatory chemicals are released by overactive microglia and make nerve damage a lot worse.

haleyele — 2025-09-15 00:22:00 UTC

There are over 120 genes linked to ALS

Common ones include:

C9ORF72
TDP-43
FUS
SOD1

Environmental Risks include:

concussions
military service
smoking
heavy metals
pesticides/toxins

haleyele — 2025-09-15 00:25:10 UTC

Descriptive symptoms and diagnosis for ALS

haleyele — 2025-09-15 00:32:38 UTC

progression rate can vary
mean survival rate is 2-5 years
trouble with fine motor skills (grasping pen, lifting cup)
progressive muscle weakness (painless, initial sign)
weakness in hands, arms, legs, feet, speech or swallowing muscles)
tripping or dropping things
abnormal fatigue
muscle cramps and twitching
paralysis develops as disease progresses
respiratory muscle weakness

haleyele — 2025-09-15 00:36:10 UTC

difficulty walking
hand weakness or clumsiness
slurred speech, trouble swallowing
emotional changes, untimely crying or laughing
often starts in hands feet arms or legs
little or no pain in early and late stages
taste, smell, touch, and hearing generally unaffected

haleyele — 2025-09-15 00:47:07 UTC

ALS has no definitive test so diagnosis is based on clinical features and ruling out other diseases

Doctors look for:

upper motor neuron (UMN) signs (spasticity, brisk reflexes)
lower motor neuron (LMN) signs (muscle weakness, fasciculations)

Diagnostic criteria/tools

Awaji-shima criteria- improved sensitivity by treating EMG findings as LMN signs
Cortical hyperexcitability- early and specific biomarker of ALS
TMS tests- help distinguish ALS from lookalike neuromuscular disorders months earlier

haleyele — 2025-09-15 00:51:34 UTC

medications used for ALS

Qalsody- targets people with SOD1 gene delivered by Inthrathecal injection (lumbar puncture); slows ALS progression and improves symptoms
Radicava- delivered by IV infusion or oral suspension; slows physical decline
Nuedexta- delivered by capsule; treats involuntary laughing/crying and can improve speech and swallowing

haleyele — 2025-09-15 01:00:17 UTC

Medical treatments:

Riluzole- survival benefit + 2-19 months
Edaravone(radicava)- slows decline
PB-TURSO- slows decline and increases survival by 6.5 months

Supportive and palliative care

PT- moderate exercise and stretching
OT- assisstive devices, ADL strategies
Speech therapy
high tech communication devices
Nutrition- high calorie increases survival
feeding support
ventilation - FVC,VC, SNP, nocturnal O2, blood gases