Amyotrophic lateral sclerosis

DEFINITION

Amyotrophic lateral sclerosis (ALS) is a neurological disease that causes muscle weakness and impacts physical function. It is also known as Lou Gehrig's disease, named after the famous baseball player who was diagnosed with it. ALS is a type of motor neuron disease that leads to the gradual breakdown and death of nerve cells, affecting muscle control needed for movement, speech, eating, and breathing. The exact cause of ALS is often unknown, with only a small percentage of cases being inherited.

SYMPTOMS

Early signs of ALS include difficulty walking, weakness in limbs, hand clumsiness, speech difficulties, muscle cramps, and twitching. As the disease progresses, muscle weakness spreads throughout the body, affecting functions like chewing, swallowing, speaking, and breathing. However, ALS typically does not impact bowel or bladder control, senses, or cognitive abilities.

CAUSES

In ALS, nerve cells controlling muscle movement degenerate over time, leading to muscle weakness and wasting. While some cases are inherited due to gene mutations, most occur randomly. Possible causes being studied include gene mutations, chemical imbalances like high glutamate levels, immune system dysfunction attacking nerve cells, and mishandling of proteins within nerve cells.

RISK FACTORS

Established risk factors for ALS include heredity (familial ALS), age (most common between 40-60), and sex (slightly more common in men before 65). Environmental factors like smoking and lead exposure may also increase risk. Recent studies suggest a higher risk of ALS among military veterans due to various exposures during service.

COMPLICATIONS

As ALS progresses, complications such as breathing problems leading to respiratory failure (common cause of death), speaking difficulties, eating challenges causing malnutrition and pneumonia risk, and potential cognitive issues like dementia may arise.

PREPARING FOR YOUR APPOINTMENT

If experiencing symptoms suggestive of a neuromuscular disease like ALS, consult a family doctor who may refer you to a neurologist for further evaluation. Keeping a symptom diary and finding an integrated care team can aid in diagnosis and management.

TESTS AND DIAGNOSIS

Diagnosing ALS involves ruling out other neurological conditions through tests like electromyogram (EMG), nerve conduction studies, MRI scans, blood/urine tests, spinal tap, and muscle biopsy.

TREATMENTS AND DRUGS

While there is no cure for ALS, treatments aim to slow symptom progression and improve comfort. Medications like riluzole may help slow disease progression. Therapies including breathing care devices, physical therapy, occupational therapy, speech therapy, nutritional support, psychological support can enhance quality of life.

COPING AND SUPPORT

Coping with an ALS diagnosis involves grieving the news while maintaining hopefulness about life expectancy beyond average estimates. Joining support groups and making decisions about future medical care can help individuals and families navigate the challenges posed by ALS.

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QUESTIONS

1. What is another name for Amyotrophic lateral sclerosis?

Lou Gehrig's disease

2. What are some early symptoms of ALS?

Muscle twitching, weakness in limbs or hands, slurred speech

3. What risk factors are associated with developing ALS?

Heredity (familial ALS), age (40-60), sex (more common in men before 65)

4. How is ALS diagnosed?

Through tests like electromyogram (EMG), nerve conduction studies, MRI scans

5. What is the most common cause of death in people with ALS?

Respiratory failure

6. What is the only FDA-approved medication for ALS?

Riluzole

7. What therapies are commonly used to manage symptoms of ALS?

Physical therapy, occupational therapy, speech therapy

8. How can individuals cope with an ALS diagnosis?

Joining support groups and making decisions about future medical care

9. Which famous baseball player is often associated with ALS?

Lou Gehrig

10. What environmental factors may increase the risk of developing ALS?

Smoking and lead exposure