Amyotrophic lateral sclerosis

Question 1

What is ALS

Answer 1

Rare neurological disease that affects motor neurons, nerve cells that control voluntary muscle movement, like chewing, walking and talking.

Question 2

what is the patho/ cause of ALS

Answer 2

mechanisms include
- altered RNA processing leading to prion-like self-aggregation
- superoxide dismutase type 1 SOD1 mutations leading to free radical toxicity
- cascading inflammatory responses,
- excessive concentrations of glutamate, can lead to overexcited nerve cells and death.

The pathology of amyotrophic lateral sclerosis is characterized by the degeneration and gliosis of axons within the anterior and lateral columns of the spinal cord. Motor neurons within the spinal cord anterior horns and Betz cells within the motor cortex are also lost.

Question 3

what are the early symptoms of ALS

Answer 3

• muscle twitches in peripheral limbs
• muscle cramps
• increased tone
• muscle weakness
• difficulty chewing or swallowing

Question 4

what is the later progression of ALS

Answer 4

• Not being able to walk, chew food, speak
• may not be able breath
• muscle cramps, neuropathy
• not able to maintain weight and be malnourished

Question 5

what are the risk factors of ALS

Answer 5

• AGE – more common in 50+
• males are more likely
• Caucasians and non-Hispanics are most likely
• nearly all cases are considered sporadic, although 5 to 10% of cases are familial. With 25 to 40% to be caused by a defect in the C9ORF72 gene

Question 6

how is ALS diagnosed and managed

Answer 6

diagnosis
- physical exam with a neurological exam will test reflexes, muscle strength and wasting. tests like EMG and MRI can be done to rule out other conditions
treatment
- NO TREATMENT
- support health care, best with multidisciplinary team
- drugs - riluzole is believed to reduce Motor neuron damage and Edarvaone has shown to decline
- nutrition, phsyical therapy, communication support.