Case #2: Ms. Alston

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Case #2: Ms. Alston by Mind Map: Case #2: Ms. Alston

1. What are the risk factors associated with ALS? (including potential exposures)

1.1. Although there are recent genetic studies that have improved the understanding of ALS (especially familial ALS), non-genetic factors play an important role in ALS

1.2. Some non-genetic factors include:

1.2.1. Lifestyle choices such as smoking, physical fitness, BMI and intake of antioxidants

1.2.1.1. Inversely intake of vitamin E is shown to lower risk for ALS

1.2.2. Occupational and environmental exposures such as electromagnetic fields, metals, pesticides, Beta-methylamino-L-alanine, and viral infection

1.2.2.1. Military personnel are exposed to many unique and potentially harmful factors such as physical and psychological exertion and trauma, transmissible agents and vaccines and other environmental toxicants

1.2.2.2. Viruses such as HHV-6 was associated with more than a threefold risk for ALS

1.2.2.2.1. HHV-8 has an associated eightfold risk

1.2.2.2.2. Retroviruses are also associated with motor neuron syndromes

1.2.3. Links to other medical conditions such as head trauma, metabolic diseases, cancer, and inflammatory diseases

1.2.4. Men have a higher risk than women (Ratio of incidence of men to women= 1.2-1.5)

1.3. Genetic factors

1.3.1. About 10-15% of ALS patients have a familial form of ALS

1.3.1.1. This shows that at least two first-degree or second-degree relatives also have ALS

1.3.2. There are two major genetic contributors to ALS that are known

1.3.2.1. C9ORF72 (Chromosome 9 open reading frame 72) gene

1.3.2.1.1. This gene has been associated with ALS and FTD (pick's disease) and is a hexanucleotide repeat sequence in a non-coding part of the gene.

1.3.2.1.2. Shows thousands of repeats in ALS patients versus 2-30 in control populations

1.3.2.2. SOD1 (Superoxide dismutase) gene

1.3.2.2.1. This is one of three superoxide dismutase isoenzymes that is responsible for converting free superoxide radicals to molecular oxygen and hydrogen peroxide

2. How is disability defined/ what are the legal rights of disabled individuals in terms of employment, etc.?

2.1. Disability discrimination is covered by the Americans with Disabilities Act (Rehabilitation Act)

2.1.1. This occurs when an employer treats an applicant or employee less favorably because she has a history of a disability or because she has a physical or mental impairment

2.1.2. The employer must provide reasonable accommodation to an employee or job applicant

2.1.3. The definition by the ADA is a person who has a physical or mental impairment that substantially limits one or more major life activity

2.1.3.1. Includes people who have a record of such an impairment even if they do not have the disability now

3. What does the management of ALS include? (including prognosis)

3.1. Treatment of ALS typically involves symptoms management as there is no "cure" for ALS

3.1.1. Disease modifying therapies can slow progression and prolong survival, but there is no reversing progression or improving strength or function

3.1.1.1. Therefore, treatment is aimed for optimizing quality of life and involves a multidisciplinary approach

3.1.1.1.1. Symptoms that are typically treated are pain, sleep disorders, spasticity, emotional lability, depression and digestive disorders

3.1.2. Drugs such as riluzole and edaravone are used to treat ALS

3.1.2.1. Riluzole reduces damage to nerve cells and motor neurons by decreasing glutamate levels

3.2. Prognosis is typically fairly poor and it is typically fatal within 3-5 years of symptom onset or diagnosis

3.2.1. Approximately 30 percent of ALS patients are alive 5 years after diagnosis and 10 to 20 percent survive for greater than 10 years

3.2.2. Factors that help increase chance for survival are younger age of onset, longer delay from symptoms to diagnosis, higher ALS functional rating scale score and limb onset (rather than bulbar onset)

4. What social services are available to patients with ALS? (including veteran services)

4.1. The Compassionate Allowances program allows patients with 50 diseases and condition to qualify for benefits based on minimal objective medical information

4.1.1. This agency can quickly identify people who fit into these allowances and qualify for benefits

4.2. The social security administration (SSA) pays monthly cash benefits to people who are unable to work for a year or more due to disability

4.3. She could also be entitled for Supplemental Security Income (SSI) which is a federal income supplement program

4.3.1. This program pays benefits to disabled adults with limited resources for basic needs

4.4. In addition, she qualifies for Medicare and does not have to be 65 years or older to qualify

4.4.1. She also does not have to wait 25 months to be eligible

4.5. As a veteran, Ms. Alston would benefit from the Department of Veterans Affairs, which implemented regulations to establish services for veterans with ALS

4.5.1. If she served at least 90 days of continuous active duty in the U.S. military she is entitled to receive VA disability compensation

4.5.1.1. This is paid monthly and varies depending on the degree of disability and number of dependents the veteran has

4.5.2. In addition, she receives a full range of health care benefits, including prescriptions, medical supplies, prosthetic items, home improvement and structural alteration grants to pay for the home being more accessible

5. What is included in the workup/diagnosis of ALS?

5.1. No one test provides a definitive diagnosis of ALS and the diagnosis is primarily based on a detailed history of the symptoms and signs observed by a physician during a physical exam

5.2. The presence of upper and lower motor neurons symptoms strongly suggests the presence of the disease

5.3. In addition, a series of tests can rule out other diseases in a differential

5.3.1. Muscle tests include electropmyography (EMG) which records the electrical activity of muscle fibers and nerve conduction studies (NCS) which measures electrical activity of the nerves and muscles by assessing the nerve's ability to send a signal along the nerve to the muscle.

5.3.2. MRI are also used to rule out other mimicking causes such as a spinal cord tumor, herniated disk, spondylosis, etc.

5.3.2.1. The MRI of an ALS patient should be fairly normal